Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton

In remembering Dick Cotton, I think about a man who displayed great energy and excitement for both his scientific causes and for life in general. His enthusiasm was infectious, and this was a great part of his success in getting others on board to work for his “Dream.” This dream, for which Dick was certainly way ahead of his time, was to markedly reduce the burden and suffering from human genetic disease throughout the world. The mechanism he proposed for this was to be able to screen populations for causative variants for disease and be able to apply various strategies through genetic counseling for those at risk. Just as this was being applied to reduce the burden of Thalassemia in Mediterranean countries and to Tay-Sachs disease in Ashkenazi Jews, Dick's goal was to take the new availability of the entire genome sequence, and provide an accurate and complete database of all variants and their phenotype worldwide known to cause inherited disease. Most importantly, this would be Web based with free open access to all. Dick's strategy for this became known to me at its inception in 1996 at the HUGO Mutation Database Initiative (MDI) meeting, when I was fortunate to be attending the Human Genome Meeting (HGM1996) in Heidelberg, Germany. At that meeting, Dick organized a small group of geneticists to be a committee to work on his first goal, which he saw as a need for standardized nomenclature for variants. I was hooked that day by Dick's excitement for this project, and joined up to help achieve this goal. At that time, Dick also introduced the concept of the Locus-Specific Database (LSDB) as the best way to curate detailed information about variants in a specific disease-causing gene; the idea was that if a geneticist specializing in a particular genetic disease were to be the curator, the database could contain deeper information on phenotype than a genome-wide collection by a curatorial team not knowledgeable about a specific disease. This idea was adopted over a series of meetings led by Dick between 1996 and 1998, at a time when the genome sequence was only known for a minority of human genes, and motivated me in 1998 to curate a Fanconi anemia LSDB. When the draft of the Human Genome became available in 2001, Dick saw it was time to strike out as an independent organization from HUGO, dedicated solely to promoting the discovery and free publication of information on disease-causing variants in all human genes, and at a meeting of stakeholders, a new society known as the Human Genome Variation Society (HGVS) was inaugurated on October 12 at the American Society of Human Genetics annual meeting in San Diego, California. I again felt fortunate to have the opportunity to get to know Dick better at this time, taking a lead in incorporating the new organization and serving on its initial Board of Directors. And when Dick saw the need for forming the Human Variome Project (HVP), I again felt his great energy and ability to motivate even larger numbers of geneticists worldwide in support of his dream. Today, according to their stated goals, others, such as the Global Alliance for Genomics and Health (GA4GH) and ClinVar, are acknowledgements of the importance of the foresight of Dick's vision. Last but not least, it was Dick's joie de vivre that led him to always seek out special venues for dinners and other events at all the meetings he organized, making each year that I worked with him memorable.

Arleen Auerbach

While I duly respected and admired Dick for his devotion and personal investment in inspiring, promoting, and pioneering activities related to genetic disorders, and particularly in sharing clean, annotated data, I myself had too few opportunities to directly interact with him, besides what united us within the Human Mutation Editorial Board.

Hence, I hesitated as to what I could possibly say that was different and more personal than what others may tell. I have too few anecdotes or details to tell, except for the general feeling of a generous man who contributed to shaping our community, and who never hesitated to volunteer, propose, and assume responsibilities in what he considered, often judiciously, as the right next step required to move forward.

Dick was a builder, constantly thinking about new structures or organizations to further enhance progress in genetics and in international collaborations. Others can probably better speak about this facet of his personality.

On a personal note, what comes back to my mind is Dick's typical, genuine curiosity, whenever we met, with him asking questions about what I was doing lately, what new directions my work was taking, what was my opinion on this or that subject… He was more interested about finding out about other people, inciting them to talk and making them feel good, than about speaking about himself. Our last opportunity at a HUGO meeting in Paris summarizes this well. At the reception diner, we engaged in one of these conversations, wherein, encouraged by him, I shared my thoughts. Dick immediately incited me to write them down in a manuscript, which was eventually published.

Dick was a great partner. We all miss him. His societal successes testify for his engagement and vision. He left a huge legacy that should inspire us to continue along this path.

Jacques Beckmann

It was the mid 1980s, and I was working in London as a young PhD student inventing new ways to detect mutations by heteroduplex DNA cleavage. Then, one day an enthusiastic postdoc from Australia turned up to visit me. He explained that he had already been working on a highly related approach for years, with chemical rather than enzymatic cleavage strategies, and he generously offered me loads of advice and options for collaboration. This, of course, was Dick Cotton, who thereby provided this fresh-faced young scientist with a wonderful example of about how science can and should be conducted in a maximally open, friendly, and collaborative manner.

Dick and my interests remained in mutation analysis for the next few years. Then, about a decade later, now somewhat less fresh-faced and employed as a senior postdoc, I found myself elected onto the HUGO Human Genome Annotation Committee, and shortly afterwards onto the HUGO Council itself. And guess who I found there—as a Council member energizing several HUGO committees? Yes, Dr. Richard Cotton—yet again, several steps ahead of me! And this guy really shook things up, not least by creating and running the HUGO Mutation Database Initiative (MDI), and developing this into the renowned Human Genome Variation Society (HGVS), to thereby single-handedly pull together a productive global community of scientists and genuine friends. As a postdoc, I watched all this unfold, and understood that this guy saw no limits, he had great vision, and he inspired true loyalty among his colleagues. Furthermore, he was amazingly productive—simultaneously also launching the International Mutation Detection Workshops, Mutation Detection Courses, and starting up one of today's top genetics journals, Human Mutation.

So I was inspired. I joined in Dick's initiatives, and even launched some of my own (projects, databases, meeting series), which he was always most helpful with.

As the years went by, I saw Dick lead by example in arguing and working passionately for things such as standard nomenclature, locus specific mutation databases, open consortia efforts (e.g., InSiGHT), and the idea of a central mutation “WayStation.” Sadly though, most funders and mainstream politicians were at that time rather lukewarm on much of this stuff. But that never derailed Dick's efforts. He kept fighting, and we can all be glad that he came to see (even though it took a decade) the mainstream start to catch up with his ideas—by creating things like today's GA4GH sharing and standards initiative, and the ClinVar database version of a mutation Waystation.

But let everyone note—the establishment has only yet STARTED to catch up. Global opinion leaders might take note of the fact that Dick's focus was never just on the needs, data, and solutions of merely a handful of countries. Instead, he had a truly global vision and heart, and in 2006 pushed things forward by creating the HVP, now involving intergovernmental organizations such as UNECSO and the WHO. So as I yet again find myself several steps behind Dick, I would like us all to celebrate Dick's life and his proven track record of predicting what the field needs, and as a result lobby funders toward a genuine push, in league with the HVP, to properly unify the whole world in its quest to share in the genome revolution. This would truly honor Dick Cotton's memory.

Meanwhile, in my own little corner of the genome/informatics world, I see how very much my own career—and that of many others—was influenced by Dick's gracious and yet powerful scientific vision, his patient, and generous nature, and his all-inclusive approach. Richard was a great scientist, and an even greater human being. I feel privileged that our lives were intertwined in so many ways, so that I could know him and follow him, both as a colleague and as a friend.

Anthony Brookes

Others have written about Dick's enormous contributions to science and society, and there is so much that could be said, but given limited space, here are a few personal remembrances. Dick was charming: “G'day”, a smile, and a strong handshake was Dick's usual friendly greeting. Dick was welcoming: he first introduced himself to me during a coffee break at my first HUGO Mutation Database Initiative (MDI) meeting nearly 20 years ago. I was new to the field, presenting a poster about Locus Specific Database software that I had developed, and Dick instantly made me feel part of the team. Dick was inclusive: he wanted all the poster presenters to have their moment in the spotlight, so he asked me to give a 2-min talk about my poster with an overhead projector and felt-tip pen, immediately after coffee. Talk about being dropped in at the deep end. But that was Dick, and the start of a friendship that I will remember dearly. Dick was a master networker: having welcomed me into the mutation database community, I developed many friendships and collaborations as a direct result of Dick's introductions. Dick was considerate: when I first visited Dick in Melbourne, he offered to help find accommodation for me. He usually found rooms at his club for visiting scientists, but Dick knew my dislike of neckties, which were de rigueur at the club, so he arranged an alternative for me. Dick liked early breakfast meetings: I remember bleary-eyed 6:30 a.m. sessions of eggs Benedict and coffee with Dick and others to discuss some issue before the start of conference sessions. Dick was a driving force: Dick was central to the creation of the Human Genome Variation Society (HGVS) from the foundations of the HUGO MDI in 2001, and in 2006 he started the HVP with a meeting in Melbourne where I was privileged to be invited to give a presentation. Dick was encouraging and supportive: I was honored when Dick unexpectedly asked me to join the editorial board of Human Mutation. Dick was infuriating (very occasionally): being asked to chair a session at an HGVS meeting at the last minute, or being handed a telephone to talk to a stranger about a grant application could be disconcerting. Still, it kept some of us on our toes. And finally, Dick liked a beer: or “grog” as he called it in the Australian vernacular. There was nothing more pleasant than to sit down with Dick, after a long hard day's HGVS meeting, and share a beer or two with him. Dick, thank you for everything over the years. You will be missed. Cheers!

Alastair F. Brown

Twenty-five years ago, we needed scanning methods able to explore exonic/flanking sequences for electrophoretic differences between wild-type and mutant DNA in order to restrict the laborious Sanger manual radioactive sequencing effort to a few suspect exons. Professor Richard Cotton was a pioneer extremely successful in this field, inventor of several methods, such as the powerful chemical cleavage and enzyme cleavage of mismatch techniques. With the increasing knowledge about genes, he anticipated that a Journal dedicated to mutations, databases, and methods of detection would be a unique forum to update worldwide information on genetic human variation; Human Mutation is our beloved, responsible, and independent Journal, and we are honored when our work is accepted for publication. He was also excellent in writing review articles, and, as many other teachers, I have been happy to use his famous figure illustrating cleverly and simply the principles of scanning methods (1). He demonstrated an enormous devotion and energy during 30 years, to advocate all over the world the absolute need for developing accurate and freely available genetic databases that would help diagnosing and curating genetic disorders.

One Sunday at work in 2001, having read his related articles, I sent Professor Cotton an e-mail to indicate my views on the main problems encountered in daily practice with collecting and curating genetic data. A few hours later, I received an invitation to Melbourne. Things were as easy as that with this amazing man. From June to July 2001, I had the extraordinary opportunity to be a “visiting professor” with a research award from the University of Melbourne. I was warmly adopted by the Cotton's team at the seventh floor of St-Vincent's Hospital and coached by Rania Horaitis and Heather Howard in our small desk next to the modest Dick's office. Dick asked me to examine and evaluate all 262 gene-specific mutation databases that were available through the Web in 2001 with the aim to help define the ideal structure and contents of LSDBs (2).

Dick and his distinguished Pediatrician spouse Elisabeth were also the most charming hosts, inviting visitors at home. They also took me to their farm of orange trees, located in the Wangaratta area surrounded with beautiful landscapes and wild animals including kangaroos and wombats. Dick was extremely proud and happy of this plantation and considered himself as a “farmer-scientist.” I remember that he would have enjoyed meeting the French sheep farmer activist José Beauvais who produces Roquefort cheese in the wild Larzac plateau near Millau. In line with his gentleman nature, Dick dreamed of a familial and ecologic model of agriculture rather than the current industrial, deleterious, and polluting agricultural system.

Dick was very loyal to friends and colleagues; for years after my short stay in Melbourne, I still received news, GDRC newsletters, and personal invitations to Australasian and International projects, symposium, workshops, congresses, publications, or events related to human genetic variation, including the 2006 Melbourne meeting that founded the HVP (www.humanvariomeproject.org) in which his young collaborator Timothy Smith was so much dedicated. He always defended the dissemination of knowledge, and, among other initiatives, was a formidable promoter of the “Mutation Detection Courses” organized with Graham Taylor and Johann Den Dunnen in conjunction with the Human Genome Organization (HUGO) that contributed to the training of several generations of molecular geneticists and curators of databases. I had the immense privilege to be invited to several sessions and to organize the 2002 Course and, later, the HGM 2006 meeting in Montpellier, southern France, which gave me two opportunities to welcome him at home in order to seriously compare Australian and French wines.

This man was gifted with total integrity, and had this extremely rare capacity to give you value and importance and constantly had an idea to propose. He took care of you, whatever your country, grade, or origin, and this was absolutely unique in medical science.

Mireille Claustres

An ecological orange-farmer. Wangaratta, Australia, July 2001.

A happy man among students and colleagues. HUGO Mutation Detection Course, Montpellier, 2002.

A nice gentleman taking care of injured colleagues. Daydream Island, Australia, September 2014.

Dick and I had our differences, emanating from trying to do the same thing (collect human mutation data) but in very different ways. We could be bemused by, and perplexed with, each other at the same time as getting along remarkably well together. I have many memories of Dick, most of them fond, but I am not sure that any of them really fit into the category of being appropriate to share in a public context. I will remember him first and foremost for the warm and friendly welcome he always extended me on the occasion of the annual Human Mutation Board Meeting at ASHG, but this is hardly newsworthy because Dick was the sort of person who extended a warm and friendly welcome to everyone. Whatever else one thought about him, he was one of those people to whom the description “larger than life” really does apply. The best compliment I can pay him is that I miss him and will never forget him. That is a pretty good epitaph for anyone if you think about it.

David N. Cooper

I am a lucky man to have been able to call Dick Cotton a friend. About 15 years ago, I was running the GDB Human Genome Data Base and was introduced to Dick through my contacts in the Human Genome Organization (HUGO). Because of our interest in databases and cataloging biological variants, we began collaborations and discussions with many others and I was eventually asked by Dick to be on the founding board of the Human Genome Variation Society (HGVS) and work with him and others to find funding for future projects. Dick truly epitomized the words “a gentleman and a scholar.” He was a leading influence in bringing together curators of variation databases and creating a society for the collection and curation of human variation information. One reason he was clearly so successful in doing so, was his affable personality. For many months, I had late-evening calls with Dick (he in Australia and I in North America) and every call, though tedious with work at times, was like catching up with an old friend.

There is a personal story I would like to share that sums up the “class act” that was Dick Cotton. Most who knew Dick, knew of his use of “Clubs” as residences and dining halls through many of his travels. I had only seen such clubs in movies and usually they were frequented by the captains of industry. You would look around and expect to see John Jacob Astor sitting in a corner chair, smoking a cigar. But when greeted by Dick, you felt you were entering his own home. The comfort and friendliness he exuded as a host is a part of his character I will never forget. Others can go on at length reciting his enormous body of scientific accomplishments. I will just remember him as one of the classiest gentlemen I had the great opportunity to know.

A. Jamie Cuticchia

Dr. Dick Cotton was one of the kindest and most supportive scientists I have ever met, in addition to his enormous contributions in his field. As a young investigator, he invited me to several of his outstanding Mutation Detection workshops. From these meetings, I met many top scientists in the field and this helped my career. As a member of the Editorial Board of Human Mutation, I met and interacted often with Dick, and he always encouraged open discussion and welcomed input. I very much miss Dick, but his memory and accomplishments will always be with us.

Michael Dean

I cannot remember where I met Prof. Dick Cotton first. It was probably during a meeting of HUGO or the ASHG, but it was undoubtedly linked to the topic of mutation detection and databases and especially sharing variants—a passion we somehow shared. How, I do not know, but gradually Dick involved me in many, many ways: the Mutation Detection Meetings, Mutation Detection Courses, the HUGO Mutation Database Initiative, mutation nomenclature, THE journal, standardization, HGVS, and HVP. It was a lot, but the shared passion kept me active. Even when there was a disappointment, talking to Dick easily revived the passion. How did he do that? Partly, the compliments he gave, in public and private, but especially his enthusiasm and drive.

During a meeting, Dick tended to put me, like several other people, suddenly in the spotlight. “Johan has been silent for some time, let's hear what he has to say.” This remark was usually accompanied by some compliments (“expert on the topic” or “usually says sensible things”) making it difficult to be angry with him. My standard answer was something like “I suggest we stop making plans and start doing something. Send your data to Leiden and the problems discussed will gradually be solved.” Putting people in the spotlight was one of several ways he used to engage people, to get people involved.

Meeting Dick was always a pleasure, but at the same time dangerous. He had a small piece of paper with him, probably labelled “discuss with Johan.” The list of items to discuss was rarely short and the outcome always the same; sparked by his drive and enthusiasm, and our shared interest “for the cause,” I promised to do some things. Mostly, I could keep most promises, something Dick probably appreciated in me. As a consequence though, for a next meeting, he had another list to discuss.

Dick invited me many times to come to Melbourne, to work together for some time. Among others, he would then show me his orange farm, another passion of Dick. Earlier this year (2015), I contacted Dick to tell that I was finally able to accept his invitation. End of the year, I would come to Melbourne for a few months. I write this while in Melbourne, feeling sad (“do not postpone until tomorrow, what you can do today”) but at the same time with a smile on my face. All these good memories. I MUST get people to SHARE their data.

Johan den Dunnen

The offer from Dick Cotton of the job as Editorial Assistant for Human Mutation launched me, in a roundabout way, into the world of human genetics. At the time Dick was Deputy Director of the Murdoch Institute. I was trained as a teacher but had been working as a journalist for a country newspaper. The advertisement asked for a Teacher/Journalist—that sounded like me.

I was also managing a country property and on a forest advisory committee—shared interests that bonded a friendship and may even have given me the job.

In 1991, Dick and Haig Kazazian Jr., in association with New York publishers Wiley-Liss, were setting up the peer-reviewed journal Human Mutation. My initial task was to help this new journal on its way. Excitement greeted as research papers began to arrive, initially in hard copy. As email became an accepted form of communication and transmission, the process sped up. Dick handwrote and I typed the emails and tracked each paper's progress. When our first published issue arrived in the mail, there were celebrations. Human Mutation and the mutation database grew from there.

Later, as his personal assistant, I saw first-hand the determination required to chase funding for his projects.

Dick showed unparalleled energy while managing his teams of research scientists, reading, thinking, devising methods of mutation detection, organizing conferences, chasing funding, and still finding time for his family, his farm, and his firm friends. Dick and Libby loved to entertain at home. I have fond memories of dinners and barbecues at Kooyong, Point Lonsdale, and Wangaratta—happy times away from the work environment.

Always positive and good humored, always going to or coming from somewhere, always a pleasure to work with, Dick Cotton will be fondly remembered and greatly missed.

Julie Foletta (AKA Julie Cross)

Dick Cotton and David Danks were responsible for my return to Australia when I finished my DPhil at Oxford in 1988. Always interested in the genetics of inherited diseases, the Murdoch Institute was clearly the place in Australia to continue to develop my career in this fascinating research field.

At that time, I knew of Dick's work on phenylketonuria but was only generally aware of his burgeoning interest in mutation detection methods. Thus, I began my postdoctoral position in his laboratory combining these two areas of his research interests. This was at the height of his work using Chemical Cleavage to find the site of mutations in genes. The methodology was rapidly adopted by a number of laboratories within the Murdoch Institute, the Royal Childrens Hospital and collaborators overseas, and numerous publications attested its value for mutation discovery.

Dick was a firm believer in the Chemical Cleavage method. A band on a gel had to mean there was a mutation—that was the way it was designed. I recall spending many, many hours/days repeating CCM on a particular fragment of the phenylalanine hydroxylase gene, getting a band indicating a mutation, and sequencing the life out of that region in the patient. Determined I had found the first real false positive and planning to write this up. I did one more experiment and found that the mutation was in the control and that the published reference sequence was incorrect. This has been a life-long learning that I still draw on to this day.

The laboratory was not the tidiest I have worked in as Dick was an avid collector—of everything. He always said that we never knew when we might need that piece of equipment again and years later someone usually did. This “hoarder” tendency I understand extended into Dick's home life. His family would bemoan the weeks or even months of newspapers that would pile up at their beach house for Dick's holiday reading.

Dick was always ahead of his time and peers with ideas, plans, concepts, and experiments. His establishment of the journal Human Mutation with his long-time colleagues delivered a focus for the systematic collection of new variants as they were discovered. For many of his colleagues, this interest in variation curation and databases may have seemed a tad dry and a less interesting element of biological research. To Dick, it was a foundation platform for the future for genomic medicine and he has been proven correct. The HVP is a testament to his vision.

Dick was a researcher of high principles and was very well respected. His laugh was infectious and memorable and I still believe I hear him across a crowded conference poster session or when walking through the scrub at Point Lonsdale. Rest well, Dick.

Sue Forrest

Chemical cleavage comparing rat and human phenylalanine hydroxylase—the front cover of the Murdoch Institute for Research into Birth Defects annual report 1989

It was in the late 80s when novel methods for scanning mutations in the genome were labor intensive and often time-consuming that Dick Cotton published a simple method to characterize mutation status in the steroid 21-hydroxylase (21-OHase) gene using chemical cleavage of mismatched nucleotides (CCM). The method was extended to interrogate a variety of recessive hereditary conditions using hydroxylamine and osmium tetroxide-induced mismatch cleavage. His publication inspired me to seek a research fellowship at the Children's Hospital of Philadelphia to work on the genetics of thalassemia.

Fast forward, I was working on one of the very first pyrosequencing platforms when I received an invitation to present my work on detection of mutations in hearing loss [Ferrari et al., 2002] at the fourth Australian Mutation Detection Workshop in the Barossa Valley in South Australia. It was my first trip to Australia. Apart from the highly stimulating scientific discussions and presentations, I had the opportunity to get to know Dr. Cotton and get accustomed to his cheerful and friendly personality and disposition. Since then, I interacted with him in different occasions such as at the HUGO Mutation Detection meeting in Palm Cove, Queensland and at multiple meetings of the American Society of Human Genetics that set the foundation in 2006 for the Human Genome Variome Project.

Dick was not only an internationally distinguished leader in the field of human genetics, but for many also a well-liked, energetic, outgoing friend who always looked happy. Besides his critical scientific contributions to the understanding of our genome, he was a visionary leader and a pioneer in advancing technologies for disease-causing mutation detection and in computer-based methods for their analysis.

Paolo Fortina

I met Richard (Dick) Cotton more than 25 years ago at the ASHG meeting in Cincinnati, Ohio, 1989. At that time, mutation screening of large genes with multiple exons using sequencing was an expensive, labor-intense, and tedious job. Dick appreciated this issue as an obstacle in the progress of human genetics and mutation analysis.

Dick Cotton was a pioneer in the field of mutation detection, developing methods for the chemical and enzymatic detection of human genetic mutations. At the ASHG meeting in 1989, I presented my work on using carbodiimide to modify mismatched bases in DNA heteroduplexes of normal/mutant alleles followed by primer extension to identify the location of the mismatch. There were parallel presentations on the use of other methods of scanning large segments of DNA for possible mutations. I was surprised when Dick came and found me after the session and asked me whether we could meet and talk more about my technique. He suggested I meet him at the hotel bar that evening around 10:30 pm or next morning for breakfast at 6:30. His days were always very long.

I met him that evening in the bar and heard his laughter from a distance for the first time. I remember thinking of a quote: “Laughter has no foreign accent.” (Paul Lowney).

Dick invited me to the first International Meeting on Human Mutation Detection in Oxford, UK to give a talk. This opened a new door for me and I have not looked behind since then. Throughout my career, I have benefitted from his advice and very generous support.

Since I became a Communicating Editor of his journal, Human Mutation, I have sat in multiple meetings with him on matters related to the journal. I have admired how Dick was a visionary and wanted to bring all aspects of human variation under one umbrella. Above all, he recognized the need to bring in scientists from around the world to make the variome project relevant for the whole world.

As technology changed, detection of rare but highly penetrant mutations causing genetic diseases has become easier. But Dick was quick to realize the vast implications of human variation in common disease and population genetics. He and his editorial colleagues steered the Human Mutation journal so that it remains as relevant today as it was when it started.

I will miss Dick's towering but very approachable personality, his passion for human variation and mostly his laughter, which made all the difference to a serious scientific meeting.

Arupa Ganguly

I first met Dick Cotton in 2007 at a meeting of InSiGHT (International Society for GastroIntestinal Hereditary Tumors) held in Yokohama. During the meeting, a Committee for Variant (at the time the old definition—Mutation—was used) Interpretation (the “VIC”) was established, setting a milestone for InSiGHT and for the global efforts on the collection and interpretation of DNA sequence variants. In the same year, I spent a short sabbatical in Melbourne, where I had a chance to learn more on the HVP and on Dick's vision of data sharing as an approach to accrue knowledge about human genetic diseases. Since then, Dick's support and continuous encouragement have been instrumental for the achievements of the InSiGHT's VIC, which, thanks to him, have become a model of successful scientific multidisciplinary international collaboration in the field. Hence, although my acquaintance with Dick is quite recent, he had a strong influence on my professional career.

Dick's scientific leadership and curiosity were driven by a pleasant and charming personality. The friendly and collaborative atmosphere at the HVP meetings was largely due to his presence and gentle chairmanship. Conversations with him were always interesting and stimulating, regardless of the topic—scientific or not—and he was highly respectful of other people's thoughts and beliefs. Importantly, he has incessantly fostered the growth of genetic knowledge in poorer countries through the establishment of databases and HVP Country Nodes.

Dick's ideas will survive through the HVP and other similar international and local scientific initiatives. He has been very effective in convincing the scientific genetic community about the importance of this challenge and in attracting leading scientists, who will certainly be able to continue his work. Yet, his gentlemanhood will be deeply missed.

Maurizio Genuardi

Richard (Dick) Cotton was a wonderful man. I was first introduced to him more than 30 years ago and we since met almost every year (with just a few gaps). He was a constant presence in my scientific life and represented a continuous thread of connection back to Australia for me as an expatriate. I remember well his lecture to senior undergraduates at the University of Melbourne in the Department of Genetics (1978). He discussed monoclonal antibodies—this may have been his finest work—others received a Nobel prize for simultaneous efforts on hybridomas. Dick was inspiring. He showed all the students that he was a true internationalist and his love for science. After I moved to the USA in 1986, I grew to know him better as he was a constant presence in international circles. He was generous and interactive. He went to the UK to solve the problem of facile detection of DNA mutations and visited us at Baylor College of Medicine in Houston to discuss his developments and discoveries. Others adopted his methods. We all enjoyed and respected his contributions. We had memorable social outings and it is calming to remember his characteristic laugh and respectful, dry wit. But as young postdoctoral fellows, we were mischievous and took him from dinner to a late bar, depositing him in his hotel at 2.00 a.m. We had scheduled others to meet him at 8.00 a.m. before his noon seminar while we all slept in. He showed good humor through all of it.

After his successful efforts to form the Human Variome Society and launch the Human Variation Project, his influence continued. He drew together an international contingent of scientists and tackled the difficult sociological problem of getting international scientists to communicate genetic data. This program is one of his great legacies.

I was privileged to be hosted at the Australia Club in Melbourne, of which Dick is a member. Its simple elegant style reflected his extraordinary directness and enjoyment of good things in life. Likewise, I learned he was an accomplished part-time farmer, growing organic oranges. Personally, Dick was the bridge back to my home country for many years. Like many in the community, I greatly miss his keen intellect and generosity of spirit.

Richard A. Gibbs

Richard Cotton with Pragna Patel at the American Society of Human Genetics, 2012.

It is hard not to come way from a meeting with Dick without being filled with enthusiasm. Dick was without doubt one of the most the positive and optimistic people that I have ever met in the world of biomedical research. Yes, many researchers can wax lyrical about their particular projects, but it is often difficult to distinguish the hype from genuine enthusiasm. With Dick, there was never a question that he was anything but completely sincere and committed to whatever project he was working on.

Dick was a true visionary who pioneered some of the most important initiatives in the field of human genetics in the last 25 years, including organizing the initial genetic database initiatives, first under the auspices of HUGO, then as the Human Genome Variation Society, and finally as the HVP. All of which he made global in their reach, because he realized that true advances in human genetics could only be accomplished by identifying biological variation from all nations and peoples of the world.

Most importantly, none of these projects were driven by Dick's ego, but rather the result of his tremendously inquisitive mind and desire to genuinely improve society through genetics. Indeed, like all true visionaries, he was a wonderful listener who was always open to new ideas and opportunities. However, it was at the personal level that Dick was most impressive. The moment you met him he made you feel completely at ease and you always felt his personal warmth and charm, and that he was genuinely interested in what you had to say. Indeed, if he thought that what you were saying was interesting, he would often encourage you to do something about it, either suggesting that you contact someone whom might be helpful in pursuing your goals, or on occasion suggesting that you submit an article on your ideas or research to Human Mutation.

Dick was unique in the field of human genetics and he leaves a legacy that will guide the future of human genetics for many years to come.

He will truly be missed, as he is irreplaceable.

Bruce Gottlieb

Dick was one of the three most influential people on my professional career, through the uncommonly special combination of sharp intellect, warm unpretentious personality, and visionary leadership skills, through which he accomplished so much. I was in my first year of a faculty position when I was invited (by default, I think I was the third choice from our group) to present at the HUGO Mutation Database Initiative (MDI) in Minneapolis in 1995. The group that Dick had convened here had energy and optimism and intellectual breadth, a perfect reflection of Dick, and played a major role in shaping the direction of my career. Over the course of 20 years, it was a privilege and an education to meet so many genetics professionals from all parts of the world that Dick assembled as part of the MDI, the HGVS, the HVP, and the Mutation Detection Meetings. My memories of all of these meetings involve both the professional activities and the social camaraderie. It was so obviously Dick's style to mix personal interactions with high-level professional achievement that it is impossible to picture any of these meetings without both aspects, and so unsatisfactory to aspire to one without the other under any circumstances.

It was an educational experience to watch Dick work and play at meetings over the course of 20 years, and what remains for me is a pastiche of stray memories inseparably associated with Dick: cocktail hours after the MDI/HGVS meetings; Dick's warm reassurances on a year that I could not attend the MDI that I should fulfill my other duties and would be welcomed at the next gathering; the occasional phone call from an unseemly hour Australia time to close the loop on an important task; dinner with Chinese dignitaries who were evaluating whether the HVP was made up of real people interacting and did not simply represent dry journal articles; a trip to the US FDA on a rainy day to get a window into the regulatory world's view of genomics; the discovery of Dick's upbringing on a citrus orchard and of his passion for country music (!); coming to know Paris and UNESCO through Dick's cultivation of relationships though HVP; the welcoming atmosphere at HVP meetings for my young daughters, and for all.

Marc Greenblatt

Dick Cotton was a great man, not only for what he accomplished, but for the way he went about it. What immediately comes to mind when I think of Dick are his warmth, generosity, and good humor, his unwavering commitment to inclusion, and his relentless perseverance. Dick was committed to bringing the whole world together to understand human genetic variation and its role in disease. There was no village too remote, nor hall too grand for his message. In this, he was at least 20 years before his time. His understanding that in some parts of the world, the only way to share data was to go through the government led him to push for UNESCO recognition of the HVP, his crowning achievement (not to ignore his important scientific contributions to chemical cleavage or the founding of this wonderful journal). Dick traveled all over the world wrangling for finances to support the HVP and the locus-specific databases of which he was an ardent advocate. Most importantly, he welcomed and actively encouraged all to participate in the mission to collect and describe human genetic variation as it relates to health and disease. He was prescient in recognizing the global effort this would require and the need for international standards for nomenclature, phenotyping, database maintenance, and ethics. He was warm and generous with introductions and connections and invitations to Paris and beyond. He was always upbeat. I never saw him dejected or defeated. He loved his family, his farm, and his work. Let us make sure that we bring his vision into reality and improve the lives of those living with genetic disease.

Ada Hamosh

I met Dick about 12 years ago at a conference in the US. At that time, I did not have the chance to interact with him as he was always surrounded with many people wanting to talk to him. In 2012, I was invited to speak at the Australasian Mutation Detection Workshop in Port Douglas, Queensland, as an AMP representative by Dr. Andrew Fellowes. During that meeting, I had the opportunity to talk to Dick extensively. Dick gave me the chance to present my rationale toward variant databasing and approach I had taken at Emory University. He has been a source of constant encouragement since then. Upon my return, he invited me to write an article about approach in Human Mutation, which was published in 2013. I have been in touch with him since then and have always appreciated his constant mentorship. I had a long meeting with him in May 2015 when I was in Melbourne on a visiting fellow appointment at the Murdoch Children's Research Institute. We discussed the current status of the field and what we need to do further to bring the community together. He then gave me the opportunity to present my opinions in an article in Human Mutation. He had planned to write the editorial, which was not to be. I, forever, remain grateful to Dick for his mentorship and the wonderful opportunities he presented to me.

Madhuri Hegde

Timing and a stroke of luck led to my working with Dick Cotton. I had just returned from a 2-year working holiday sequencing yeast chromosome XI in Crete and visited a friend at the then Murdoch Institute. I found out Dick had a position available in his laboratory; however, the closing date had passed. Nevertheless, I wrote a letter of introduction and sent him my CV, and within a few days I landed the job and 22 years later was still with him, having changed roles four times. I could not have imagined that that letter would have ultimately shaped my career path. Dick was a pleasure to work with; he gave everybody a chance to express their opinion and thoughts no matter who they were. He made you feel comfortable and a valuable member of the team.

Dick had a passion for his work; he constantly strived to find a better way—a better technique, a better data collection method; but always keeping in mind the ultimate goal was better genetic healthcare.

I am happy to have known him and privileged to have worked with him.

Rania Horaitis

It turned out to be an auspicious day when I applied for the position of Executive Officer at the Genomic Disorders Research Centre, the forerunner of the HVP International Coordinating Office. I was to find out that Dick Cotton's work had already touched on my life. Dick and his colleague David Danks worked together to set up the Murdoch Children's Research Institute, where they both played a major role 13 years earlier in the diagnosis of my son with homocystinuria. My interest in genetic disease was sparked by my son's disorder and this was the catalyst for my applying for the position. On my first meeting with Dick Cotton, I was struck by his warmth, easy manner, and ready laugh and was pleased to be chosen to take on this role.

In my first week, Dick had a lot of ideas and I noted them all down but when the page was quite full, I said OK, I will work as hard as I can to make these things a reality, but you must be sure you really want what you are asking for. I was soon to find out that Dick was one to throw out a lot of ideas to see which would stick. I am happy to say that all the items on the pared down list were achieved, although the secure ongoing funding for the HVP is one that still eludes me.

Dick's drive, passion, and single-minded focus on the establishment of systems to collect and share genetic data globally is one he transferred to many, including me. Numerous people have told me “he changed my life.” He is someone people will not forget and many more will not even know that he was a person who impacted their life, by the efforts he made over his lifetime. I feel privileged to have been able to play a small role in assisting this work, in the establishment and development of the HVP and to have been able to work for 14 years with such a special person.

Heather Howard

I am writing to pay a personal tribute to Professor Dick Cotton. I attended Dick's recent memorial service in Melbourne and great memories came flooding back. I first met Dick and David Danks at a job interview at the Royal Childrens Hospital, Melbourne in 1975 when I was a mere 20 years of age, a shy young man fresh out of university pleading with them to give me an opportunity to do research in Dick's group. Fortunately, they gave me that opportunity and so began a period of 22 years working for Dick. I knew nothing when I started with Dick and he basically mentored me to become an independent scientist, which he did so with great humor and diligence. I could never work out how this worked as I always thought we were so different from each other but it did. During this time, our small group of researchers grew to become the Murdoch Institute that still flourishes today.

On a scientific level, I remember Dick as one of those scientists that was never short of ideas and early on he would constantly be firing ideas at me for experiments at all times of the day. I used to joke with him that he would have to tell me any idea three times before I would do it.

Recently, I thought of Dick in my work at the Monash Institute of Pharmaceutical Sciences when our colleagues were struggling to purify an enzyme. I took over the project and thought I would do it the way Dick had taught me all those years back. It worked, we published the work and I said a silent thank you to Dick. Another thing Dick taught me was “never say never,” which I have used when mentoring students in their research projects and we are discussing ideas and I try to always test a hypothesis by experimentation.

Dick's impact on Australian science can be seen by the many postdoctoral students and researchers who passed through his laboratory over the years with many now in leadership positions.

Ian Jennings

The request to write a remembrance of Dick Cotton evoked an avalanche of recollections. I first encountered Dick at a meeting in Toronto in 2004, when he sought me out to discuss what would become the HVP. He came up to me flanked by the strongest possible “body guards,” Victor McKusick and Charlie Scriver, and his message was clear: “We need to have a system classifying human genetic variation.” I am not a geneticist and in general am weary of argumenta ad hominem, but faced with such a formidable presentation, I realized that my acknowledgment of this argument by merely expressing an interest would not do. And so, the four of us joined for dinner during which I listened with an ever increasing interest to a ballade of the human variome. Its theme was that now as the human genome project was completed and we had a horizontal map of it, we needed a vertical tower for each locus, expressing individual variability of the single-nucleotide polymorphisms (SNPs) as they appeared in different populations. Although the reality of the human genome status at that time fell rather short of this optimistic assessment, Dick's enthusiasm was infectious.

What followed, was his persistence. Having coined the term “human variome,” he proceeded in a search for funding to launch an international consortium of scientists and health professionals working to improve global health through the free and open sharing of genetic variation. The March of Dimes was able to offer him a contribution that helped to cover some of his expenses. On his frequent visits to Washington, he usually invited me to come along as he went on in his search of support. He was not always successful, but failure never diminished his conviction that he was on the right track. With the help of various international organizations, he launched the HVP in 2006 at a global meeting in Melbourne, chaired by Sir Walter Bodner, who was the President of HUGO. From then on, still seriously short of finances, he managed to organize periodic gatherings in San Francisco, in Hyderabad, in Brisbane, and finally at the UNESCO Headquarters in Paris, where now the Project meets at biennial intervals and its longevity seems assured.

Dick's legacy thus remains and its content will continue to evolve. Those of us who had the pleasure of knowing him will miss his ebullient presence, his enthusiasm, and his gentle guidance.

Michael Katz

Dick Cotton was a true gentleman and a scholar. I believe it was sometime in 1990 that he came to Hopkins to give a seminar on his chemical cleavage technique to discover point mutations in the human genome. It turned out that his secondary (or was it primary) purpose was to see if he could talk me into coediting a new journal with him. He had lined up John Wiley and Sons, but he believed that he needed a coeditor from the US. He was very persuasive, so I rather quickly said yes to the proposal. It was one of my best decisions, because Dick was such a pleasant person with whom to work. In the 15 years, Dick and I coedited Human Mutation, I never saw Dick in an angry mood. Our rare disagreements were always minor as we always aimed to improve the journal. For many years, Dick and I would speak by phone weekly, even though the time difference between Melbourne and Baltimore was 12 hr or more. I hosted Dick at Penn on occasion and he hosted me once in Melbourne. I took him to the Union League in Philadelphia and he took my wife and me to the Australian Club in Melbourne. Soon after that visit, the Australian Club became a reciprocal club of the Union League.

Now I miss Dick very much. He was always smiling, and greeting you with a “Gooday, mate.” He was such a great organizer. He organized Mutation Detection meetings biennially all over the world. He organized the Human Genome Variation Society and then the HVP, and did a great job obtaining money for its support. He did so much for the Human Genetics community. We can only repay him for all of his skill and personality by remembering him and wishing his wife Libby and his family the very best. Rest in peace, Dick Cotton.

Haig H. Kazazian

Since Dick Cotton and I have spent most of our time on different continents, there have been limited opportunities to meet in person. Nonetheless, I have had several occasions to enjoy his hospitality, his great enthusiasm, and his very strong drive to promote studies of genetic variation and their applications.

I fondly remember a meeting in the UK early in 90s, one of the first, or possibly the first in a long line of meetings on human genetic variation that he organized around the globe. Riding in a cab, he asked me whether I thought it would be a good idea to start a journal focused on human mutations. I believe Dick had become interested in the topic of detecting the effects of mutations during a sabbatical when he developed his famous chemical cleavage of mismatch to screen for previously unknown mutant sites in genes, while I shared his general interest but was more interested in methods to type known genetic variants—what we now call SNPs. I pondered his question for a bit and concluded that it might be difficult to devote a whole journal to this specific topic. Dick of course proceeded to completely ignore my advice, demonstrating that there indeed was a significant role to play for a journal such as Human Mutation, for which he served as one of the two main editors since its beginning, and graciously inviting me to serve on its editorial board.

With Dick as one of the important driving forces, the topic of human genetic variation has matured into an indispensable element of clinical medicine, with technologies evolving in waves that have reduced cost and improved capacities by orders of magnitude. Meanwhile, the appetite for scoring genetic variation has also grown, whether by whole-exome sequencing in syndromic children, screening millions of SNPs in tens of thousands and more individuals to find contributing factors to common diseases, or searching for rare-, tumor-specific mutant DNA sequences in plasma from cancer survivors to monitor their disease-free state, to mention a few of the facets.

Dick leaves a great legacy, having used his warm and driving personality to good effect to rally forces around the planet to uncover genetic elements in the causation of disease as a central element of precision medicine for improved healthcare.

Ulf Landegren

Here in Melbourne, we all knew Dick as Dick. Maybe the rest of the world did too. That was part of his charm. Raw Australian, built on his earthy grounding in rural Victoria. A grounding from which he never detached, even to the end as he died close to his native Wangaratta. He carried his “fair dinkum” Aussie style to the highest ranks of the genomics world, and it was that no-nonsense earthy style that defied avoidance and side-lining. Because he was right. Way ahead of his time. He knew that human kind needed to assemble its collective and collaborative resources to understand its own humanity, designed by its template and expressed as its phenotype. His undeviating vision to recognize the challenges of genomics that lay way beyond the simple mechanics of describing the code, was exciting but not enough. We needed the HVP.

I met Dick as he launched the HVP with great fanfare in Melbourne in 2006. It was a landmark event, assembling those that knew he was right, and those that could potentially develop it to what it needed to be. The problem was that he was ahead of his time, and that the mission of the HVP was simply beyond their comprehension as doable. But Dick knew it had to be done. Otherwise, the vast investment in DNA sequencing innovation and technology would be wasted on humanity. So he persisted. First, locally at his university: a minor signal of understanding—he was provided with a home for the international coordinating office. Then, the state government: obstacles all the way, never any positive support. Then, the federal government—well that was shoved between one department and another—not research, but not healthcare, not our business.

Dick knew his mission of assembling all DNA variation of all diseases across all humanity was the only way to reliably and best interpret the human DNA code, especially where health and illness was concerned. He did not give up. So he presented the challenge to UNESCO. At last, a recognition of the importance of his mission. Especially, as the scene was commercially fragmented and as a consequence, collaboratively unproductive in the engine rooms of sequencing in the USA. So there was a fillip to the HVP when UNESCO recognized it as a partnership with its highest order of such collaboration, for the benefit of humanity.

But this was just a scientific recognition. Dick knew it needed Health recognition. That is the World Health Organization. The WHO is a bureaucracy, like UNESCO, enshrouded in politics. Dick knew genetics cuts through all this, as all cultural and political stakeholders cannot escape the consequences of their genes passed to them over millennia. So, the WHO is now poised to endorse his vision, making it the first, as far as I am aware, to be recognized by both UNESCO and WHO at their highest level. A major influence on this is the deliberate inclusiveness by the HVP of all worlds with equal intent—first, second, and third. The HVP is active in all and streaks ahead of parallel organizations focused on benefit for the west.

And why have I been invited to contribute to this in memoriam? In 2006, Dick captured me with his vision as he presented it to his Melbourne HVP meeting. I enlisted him to my genomic patch—familial gastrointestinal cancer—to speak at our biennial International Society for Gastrointestinal Hereditary Tumours (InSiGHT) meeting in Yokohama. The rest is history. InSiGHT has benefited ever since from guidance from Dick and the HVP, as it drives forward to establish its DNA variant database for the MMR genes, a process really designed by Dick, and which now services the world every day with its information ascertained from all corners of the world to definitively classify MMR variants for exhibition to the world. For me personally, this international collaborative effort of data centralization and structured interpretation has been one of the most rewarding aspects of my professional carrier—all fostered by Dick. For humanity, we know it is important, as the InSiGHT database receives nearly 80,000 hits a month for information to seek its guidance on MMR variation. All because Dick led us with his vision. And InSiGHT represents just a dozen of the 26,000 human genes. Others now also replicate our (read Dick's) leadership.

We will look back in a decade or two, and not only will the HVP fraternity honor his vision as it always has, but, inevitably, so will the whole genomics world. It may not be the HVP standing there as the tool (I hope it will as there is immeasurable depth in its membership that may be lost with alternate arrangements), but there must be something … ClinVar/ClinGen or a European equivalent. The genomics world in Europe and USA knows this now, as did Dick, 15 years ago.

Dick would not mind. I know. Because we had this conversation over dinner with Libby and Dick only a few weeks before he died. He was pleased with the way it was unfolding in whatever jurisdiction. It did not matter who was the custodian or how it was done. It just needed to be DONE! And it is happening. So Dick rests in peace. Well done, Dick indeed! You have left an indelible and ever so valuable legacy.

Finlay Macrae

What qualities did Dick have?

Enthusiasm, energy, passion, professional dedication, integrity, and a huge sense of fun and enjoyment of life and science.

What did Dick lack?

Self-importance, pomposity, jealousy, spite, and complaints about people and life.

He was a huge credit to our profession and a wonderful example to younger scientists of how to live as a scientist.

Christopher Mathew

I first met Dick Cotton at a Human Mutation editorial board meeting in Washington, DC in 2010. Dick was positive and enthusiastic, and also had a calm demeanor that was immediately disarming. He and I had corresponded over email a few times since I started working at Wiley in September 2007, and while we did not know each other well, he still decided to sit next to me at the meeting, where Mark Paalman and I presented the Publisher's Report. Dick had his own ideas to contribute and was also genuinely interested in what the members of the editorial board had to say, a quality that made him a good editor. Dick was a dedicated scientist and a very kind man, and I am saddened by his untimely passing.

Christine Murray

Dick certainly encouraged me (early 1990s) to push Professor David R Nelson (University of Tennessee, Memphis, TN) into becoming The Curator, or Webmeister, for all cytochrome P450 genes (CYP) on Earth. And on his internet Website, anyone can see that (including all sequenced genomes of all species) he has now reached 34,000 CYP genes on this planet, as of the end of December 2015, and the list is growing every month. Dr. Nelson has really done a magnificent Herculean job at keeping this Web site up-and-running and up-to-date … now, for more than 15 years. David (as well as Dick Cotton) are to be congratulated for this.

Daniel Nebert

What an honor, what a challenge! Challenge, because English is not my native tongue. Therefore, I may lack the eloquence I wished to master so that I could pay due tribute to this outstanding man that Dick Cotton was.

I was tremendously saddened by the news of the passing of Dick Cotton. Tremendously saddened, because Dick Cotton had been such a man of honor, integrity, and vision, a man of great intellect as well as social and emotional intelligence. At a time when many scientists are more concerned about making the headlines of newspapers and magazines than ensuring the lasting quality of their research, with more than one-third of research papers published in high impact scientific journals turning out to be irreproducible, and others ignoring the practical and ethical implications of their research on individuals, society, and nature in general, Dick Cotton stood and will continue to stand out as an exemplary man, who perceived science not as a vehicle to stardom and personal greatness but as a humble service to mankind and, in particular, those deprived by their genes.

My personal encounters with Dick Cotton have been few, but they left lasting impressions and have shaped my life in ways that I may not even fully appreciate. To the best of my recollection, Dick Cotton and I met only thrice. The first meeting, upon Dick Cotton's initiative, took place in the mid-nineties in San Francisco over breakfast. At that time, Dick Cotton was already a highly renowned scientist for his contributions to the development of monoclonal antibodies, the discovery of the genes underlying phenylketonuria, and the development of the chemical cleavage and enzyme cleavage mutation detection methods. It was the latter work that made us both immediate competitors as well as colleagues with a common interest in advancing the discovery and the elucidation of the functional implications of genetic variation. I do not know which impression I left on Dick Cotton at this first meeting of ours, but eventually it must have led to my appointment as a communicating editor for Human Mutation, which was cofounded by Dick Cotton in 1992.

My next personal encounter with Dick Cotton took place again on his initiative in Melbourne, Australia, in 2003 at the occasion of the XIX International Congress of Genetics. He wanted to make my visit to Melbourne a highly memorable event and had arranged for me as well as Francis Collins, Director of the National Human Genome Research Institute at that time, and his wife accommodation at one of Melbourne's gentlemen's clubs. We had arrived in Melbourne on a Sunday evening and were greeted by a young man at the main entrance to the club. Obviously completely oblivious of the eminence of Francis Collins in the world of genetics, this young man was foremost preoccupied with the ramifications of granting a woman access to the premises of a men-only club, explaining that Francis’ wife might enter through the main entrance only this evening because all the members had already left, but insisting that she would have to use the employees’ entrance for the remainder of the stay and that all rooms used by the members were off limits to her. It goes without saying that Dick Cotton felt quite embarrassed about this incident when it came to his knowledge, but he took care of the matter in minutes and made sure that the Club suspended its rules for the duration of the stay of Francis Collins and his wife. I should also mention that we enjoyed a terrific dinner at the Club and learnt a lot about the history and traditions of the English in Melbourne.

Our final encounter, once more upon Dick Cotton's invitation, took place in May 2008 in San Feliu de Guixols, Spain, at a planning meeting of The Human Variome Project, which was established by Dick Cotton in 2006 with the purpose of standardizing the collection of human genetic variation. The group picture taken of the meeting's attendees is hanging right behind my chair on the wall of my office and, thus, I see Dick Cotton with this characteristic great smile on his face almost every day. What made this invitation so special and yet provides another hint of Dick Cotton's outstanding personality and thinking was the fact that I had left Stanford University 3 years earlier and moved to the University of Regensburg, Germany, where aside from a minor effort at microarray-based resequencing of the human mitochondrial genome I had shifted my research focus from population and quantitative genetics to the development and application of proteomic and metabolomic methods to the diagnosis and prognostication of disease and the prediction of a patient's response to treatment. Though we are a long way off from subjecting phenotyping information to the same rigorous systematic standardization that Dick Cotton had conceived for sharing data on genetic variation, I am convinced that he had already foreseen that the HVP was only the beginning and that only truly collective integrated knowledge of genetic and phenotypic variation will lead to a comprehensive understanding of health and disease and our place in nature, for the preservation of which for generations to come he cared so much.

Peter Oefner

I will always remember Dick Cotton as a caring and generous person. Dick was always willing to take the time to help others have success in their research without any expectations in return. He was very willing to share his methods and reagents, such as his enzyme mismatch cleavage method, without any restrictions on their use. I also knew Dick through the Mutation Database Initiative of HUGO and the Human Genome Variation Society. In the creation of the Human Genome Variation Society, Dick was tireless in making sure that the society was successful, but most importantly that it had an impact on science and the use of genomics in the improvement of health care. I always looked forward to meeting Dick at the board meetings for the HGVS. Through reciprocity, as Dick was a member of the Australian Club, we had our meals at fabulous venues. Though he was willing to listen to all ideas and let others take the lead, he always picked out the wine.

William Oetting

First impressions are everything, we are told. My first impression of Dick Cotton was to witness a force of nature—but meant in the best possible way. It was 1999 at the ASHG meeting in San Francisco, which also included a Mutation Database Initiative symposium. It was clear immediately that Dick, so outspoken and persuasive, was invested for the long haul in the goal of global collection and free distribution of accurate genetic variation data, in order to improve health worldwide. Dick's unquenched drive with the MDI soon developed into the Human Genome Variation Society and later the HVP, international collaborations endeavoring to realize that dream with which Dick infected so many of us. His magnetic appeal and ability to rally this scientific community toward a common goal still astounds me—all accomplished not through brash bluster or threats but through charm, kindness, and respect.

This passion to bring people together simply exuded from Dick. It should be no surprise that Dick, along with coeditor Haig, inspired communicating editors and attracted top authors, elevating Human Mutation to a position of respect and prominence in the literature. The journal's success was important to Dick, but cultivating relationships with authors was even more so. He promoted a culture of compassion for authors in a highly competitive publishing field. He also championed free online publication as a service to the research community, long before demands for Open Access publishing became commonplace.

The rise of personalized genomic medicine might not be nearly as advanced today, were it not for Dick having urged so many around the world to embrace his dreams. But he did it with a gentle touch and a smile, not a bludgeon. Those who so greatly feel his loss today should also be grateful that they encountered, even if briefly, someone so devoted to improving the world around him, but not at anyone else's expense.

Mark Paalman

I had the nice opportunity to learn more about Dr. Cotton when I joined the Human Mutation editorial board. I was very surprised by his humbleness and modesty in spite of his great and astonishing contributions to human genetics. He once told me he was very intrigued about the diversity of Brazilian genomic variation. I expect that in the coming years with the ongoing sequencing projects of the Brazilian population, it will be possible to answer at least part of his curiosity.

Maria Rita Passos Bueno

I first had the chance to communicate with Dick Cotton in spring 2003, when we were discussing developing National/Ethnic Mutation databases (NEMDBs). At this time, the genetic database field was still in its infancy with only very few high-quality locus-specific databases (LSDBs), for example, for the PAH, CFTR, and globin loci, and with very heterogeneous data content. The Human Genome Variation Society (HGVS; www.hgvs.org), resulting from the Human Genome Organization Mutation Database initiative (HUGO-MDI) and led by Dick at that time, was spearheading the effort of encouraging the development of LSDBs and launch of other types of genetic databases.

Particularly, we discussed the possibility of developing an electronic resource to document primarily the incidence of variant alleles leading mostly to monogenic disorders in certain population and ethnic groups and their frequencies. Also, given that this was a new type of genetic database and the vast data content heterogeneity in the LSDBs, we agreed that it would be prudent to develop dedicated software not only to facilitate the development but also to prevent NEMDBs data content heterogeneity. These discussions sparked my personal interest to address this niche, a project that we launched under the umbrella and partial support of the newly established Golden Helix Institute of Biomedical Research (www.goldenhelix.org) and encouraged by the HGVS.

Our electronic mail exchange was continued in Santorini end of May 2005 at the HGVS Mutation Detection conference, when I first had the pleasure to meet Dick in person. Our first meeting coincided with the recent completion of the Hellenic NEMDB, the first database of a series of NEMDBs based on the ETHNOS software. I clearly remember Dick, Stephen Chanock, and myself sitting at the veranda of our hotel in the evening before the start of the conference, covered with blankets (the evenings in Greek islands at that time of the year are rather cold) in front of the caldera enjoying the view and drinking Vinsanto wine, the famous desert wine of Santorini, prepared according to the ancient Greek recipe. Funny enough, some clouds were rising from underneath us covering the cliff next to us, and the hotel owner came to reassure us that these were simply clouds and not smoke from the volcano that was about to erupt again.

We spent that night discussing about the need to document genomic variants and accompanying phenotypic information in well-structured, expertly curated, and sustainable electronic repositories to facilitate genomic discoveries. Clearly, Dick was a leader in every sense of the word, setting the goals and requirements to move the field forward and motivating others to join him in the path that he opened.

This is how the NEMDB field has started to evolve and sparked the development of the ETHNOS software, based on which several NEMDBs were developed and provided the conceptual basis of FINDbase (www.findbase.org), the worldwide database for clinically relevant genomic variant allele frequencies.

George P. Patrinos

I have been privileged to serve on the editorial board of Human Mutation for many years, and always looked forward to the annual board meeting because of Dick's presence. Not only had he and Haig Kazazian started the journal in 1992, but Dick perpetuated its excellence over the decades, most recently in association with Garry Cutting. But it was only last year, when on a journey to Melbourne to participate in a patient support group conference, that I was able to spend true quality time with Dick and come to benefit from his wisdom about so many varied topics. The Human Variome Project was, of course, the main focus of his attention at that time, and one could not help but be infected with his enthusiasm. The capstone to a memorable journey was having my wife and me invited to share dinner in his home with a group of their close friends. I will always think fondly of Dick at HGP meetings, Human Mutation editorial board dinners, and when viewing the Australian Open tennis tournament each January.

Reed E. Pyeritz

A great man left us. This is a big loss for his family, his university, his country, and the whole of mankind!

I first met Dick in a national genetics conference in China, the spring of 2008. He invited me enthusiastically to the HVP Spain Planning Meeting. This brought me, and China, into HVP, the big and warm international family. Dick introduced me to the other family members, and guided me to start the Chinese team. He came to China many times to support us—giving lectures, talking to the Minister of Health and other Chinese officers, and my volunteer students. Dick was always so kind, energetic, and encouraging. We miss Dick, a forever friend and mentor for HVP China!

Ming Qi

Above and beyond many scientific contributions that it would be superfluous to describe here, Dick Cotton founded a community of people dedicated to understanding genetic variation and its effects on human health with the goal of improving our ability to help individuals affected by genetic disease. It was no accident that Dick was so successful in this role. He was one of those rare people whose humility, sense of humor, and genuine interest in his fellow human beings made him deeply likeable. Not only that, his personality was a key ingredient in his ability to motivate so many people to work together within the HVP and other endeavors. Speaking with Dick about genetics invariably led to the feeling of being part of a team working toward the better understanding of the endlessly fascinating puzzle of the human genome and its role in human health and disease. With his friendly and easy-going demeanor, Dick would engage everybody—from the student to the professor—in conversation in a way that many, including myself, found incredibly motivational. One was made to recognize that one's work on collecting, reporting, and analyzing genetic variation was contributing in a concrete way to improved health care—something that is easy to forget in the day-to-day stress of clinical and diagnostic work, or when writing manuscripts and grants. I am reminded in many ways of Victor McKusick, another leader with innumerable contributions to the field of genetics whose humble and likeable personality meant that you would never notice that he had done anything out of the ordinary unless somebody else told you. I first got to know Dick well at the 2010 HVP symposium held in Paris. He invited Annika Lindblom and myself to edit a special issue of Human Mutation on Bioinformatics for Human Genetics: Promises and Challenges, a topic that was then becoming central to my career. From that time on, Dick would send me regular emails just to give me a “heads-up” on new papers or conferences on topics related to my research. His continued support, including an invitation to act as guest editor on a Human Mutation special issue on Deep Phenotyping for Precision Medicine in 2012, and to help organize a 2012 HVP meeting in San Francisco entitled “Getting ready for the Human Phenome Project,” was extremely helpful in getting community recognition and acceptance of our Human Phenotype Ontology, for which I remain deeply grateful and, yes, honored. Dick's work on the journal Human Mutation, the Human Genome Variation Society (HGVS), and the HVP were important and necessary steps toward the current situation in which sharing of data on genetic variation is coming to be viewed as the norm, and there is broad international agreement on standards such as the HGVS nomenclature. This has directly led to substantial improvements in our ability to interpret genetic tests and to optimize clinical management of individuals affected by genetic disease, and is a foundation for current and future efforts to improve health care by precision medicine approaches.

Peter N. Robinson

Dick co-founded the journal Human Mutation with the vision that any contributions in human genetics that led to greater insight about the causes, impacts, or understanding of mutations would be worth publishing. His early recognition of bioinformatic methods and their application was an important example of this. At the time, other journals were not considering these papers for publication, unless they were components of experimentally focused work. Of course, Informatics-oriented studies are now among the central themes of Human Mutation. I am grateful that he edited my early work in this field and subsequently gave me the opportunity to serve as communicating editor. He had the forethought to anticipate the impact these technologies would have on managing the deluge of sequence data that we are all presented with. We will all miss his insight and kindness.

Peter Rogan

I first met Dick (Professor Cotton as he was known to me then) 20 years ago when I began working at the Murdoch Institute in Melbourne as a fresh-faced trainee in clinical genetics. I recall him as being friendly, impeccably dressed, and, seemingly, always travelling somewhere exotic for meetings.

Over the years, I got to know Dick quite well and he remained an energetic, generous, and innovative scientist who had a real passion for the HVP and this journal (and travelling). He was a wonderful networker and appeared to know everyone in the field of human genetics and, most importantly, how to connect people for a common cause. I recall him inviting me to dinner once, as he knew that I had worked with David Rimoin in Los Angeles and that it would be good socially and professionally for us all to catch up when David visited him in Melbourne.

Dick's biggest achievement, I think, was his great work and advocacy for the HVP, now an international juggernaut that will remain a wonderful legacy for science and patients alike.

Ravi Savarirayan

I first meet Dick Cotton in 1989 I guess, just after his laboratory had developed the chemical cleavage mutation detection technique [1, 2]. There were a bunch of new mutation detection techniques in the new post-PCR era of genetic research [3] such as denaturing gradient gel electrophoresis, single stranded conformational polymorphism analyses (SSCP), and a few either chemical or enzymatic cleavage techniques. Almost all these techniques relied on the formation of heteroduplexes between wild-type and mutant DNA molecules generated by PCR. The buzz was that the chemical techniques had higher detection levels due to less bias in detecting various nucleotide mismatches. Dick and colleagues wrote a number of definitive reviews on mutation detection techniques over the years [4]. As a PhD student, I was to help decide which technique(s) we would immediately use in my group (Lysosomal Diseases Research Unit headed by John Hopwood and Phil Morris, Adelaide Children's Hospital) to look for mutations in various mucopolysaccharidosis diseases that the group had recently isolated the genes for. Dick's visit was multipurpose: to convince us to (1) use chemical cleavage, (2) collaborate widely, and (3) to support a journal he was launching with Haig H. Kazazian and Wiley.

For point 1, Dick told us we would get all the support we needed from his Melbourne laboratory. We could visit them. They could visit us. We could exchange reagents as controls, and so on. This was his typically generous and proven modus operandi over the years. In the end, we decided that the best technique was the one with highest sensitivity working in our neighbor's laboratory. This was despite the dangers of the chemicals, restrictive work conditions even with OH&S at that time. I still cannot believe that osmium tetroxide, hydroxylamine, and piperidine are not classified as carcinogenic, mutagenic, teratogenic, or having developmental toxicity. Many of these concerns and the complexity of this mutation screening technique did mean that, in Adelaide at least, it was a research laboratory only, as the diagnostic laboratories looked at allele-specific oligonucleotide hybridization, sequencing, SSCP, and other techniques. I would, however, say that it did us proud with at least four primary publications from just a few experiments [5-8]. Thanks to Dr. Tom Litjens for these actual experiments (see figure).

Point 2 was the forerunner that led to Dick's conviction that data sharing for rare genetic diseases and population genetics was a key for genetic health. We certainly followed his highly collaborative model publishing with groups from Canada, Germany, the UK, and Italy. Collaborative data sharing was to be his passion from this point on until his death. I must admit to being a doubter, about databases and data sharing in the early 2000s. But Dick has ultimately been proven right about the power of data sharing through various genome sequencing projects. It was always the practicalities of implementation that defeated me, but Dick was a dreamer who thought everything was possible.

For point 3, the burgeoning field of human genetics in the early 1990s had identified the need for more topical high-quality journals and three entered the field at roughly the same time in 1992; Human Mutation, Human Molecular Genetics, and Nature Genetics. Articles published in Human Mutation at the era compare very favorably to articles in these other journals that speaks to their quality and the influence of Dick in encouraging submissions to a new journal.

Hamish S. Scott

A personal appreciation of Dick Cotton.

Ah: that laugh!

Audible over quite some distance; unmistakable.

Sometimes reflecting a care-free moment. At other times, signaling something else. For example, Dick's involvement in the “slow food” movement (as opposed to the fast-food culture).

Many strings to Dick's bow, each with questions attached. For example:

WHO does it serve?

HOW does it serve?

And deep down, there were anchors in his life:

The family.

The homestead in the countryside of his birth.

The boy may have been taken out of that country, in the course of his career, but the country was never taken out of the man.

Thank you, wonderful friend and colleague, for your many gifts.

Charles R. Scriver

My first memories of Dick go back to 2008, to the time of the HVP planning meeting that was organized in Sant Feliu de Guixols in Spain. To be honest, at that time, I only had a vague understanding of what the project was really all about, but those little bits and pieces of its goals that had drifted into view had triggered my interest. At that 2008 meeting, Dick explained the HVP goals and plans in such a clear, highly energetic, and charming way that I was sold instantly. I was not the only one captivated by Dick's vision and presentation and surely the combination of his unique driving personality and HVP goals was what made the project gain such momentum. It was great to see how these “higher” goals translated into many practical projects over the years and Dick was an important motivator for each of these. The project I was involved in focused on data sharing and variant interpretation as part of the InSiGHT program (www.insight-group.org) on the DNA Mismatch Repair Genes. Many of us participated in such HVP-associated projects, dealing with different aspects of its goals, but Dick made sure we also always kept an eye on the bigger picture. Even though HVP was greatly expanding and meeting schedules must have become hectic for him, Dick was always keen on speaking to many of the project members individually and I felt lucky to be one of them. His personal approach was one of the keys to the success of HVP. He will be missed dearly. Continuing our support for the HVP will be an important way to honor him.

Rolf H. Sijmons

This is how I will always remember Dick: a pioneer of genetics, aware of the difficulties, but also the amazing opportunities that the genomic revolution was laying in front of us. Long before others, he realized the utmost importance of building a detailed and accurate catalog of the variations in our genes that are associated with disease. Just as the old explorers knew their draft maps of continents, oceans, and rivers were invaluable to open new areas for settlement. But Dick was not looking for new land for trade or profit. Like a 19th century dreamer naturalist, he was passionate about the richness and diversity of our genetic architecture. He sought the careful recording and sharing of genetic knowledge as a vehicle to increase equity and justice. He dreamt of a world free of genetic diseases and, while following this dream, he made it impossible not to follow him. Dick instilled many, like me, with a sense of pride to be contributing—no matter how small and humble the contribution—to draw some first, clumsy, lines of a map that will be completed by the generations coming after us.

María-Jesús Sobrido

The Pioneer.

Dick Cotton first took a chance on me when I was still an undergraduate. During the fourth year of my Bachelor's degree, I needed to take on a year-long research project culminating in a minithesis. I had submitted my preferences for a project and a supervisor through the department of Biochemistry and Molecular Biology in which I was enrolled, but was not lucky enough to get assigned a project. This led to some mad scrambling on my part to make alternative arrangements while all my friends were already starting their projects. Through some good luck, I met Dick and he was more than willing to take me on as a student despite the late start, and even helped me transfer my enrolment to a different department. That was in 2006.

I can still remember the moment during that year when Dick tapped me on the shoulder and told me that he had organized a “little meeting” in the next few weeks that I should probably come along and sit in on. It was just over the road from the laboratory and he said they might need some help every so often, but otherwise I should just “listen and learn.” That meeting, of course, was the first ever HVP meeting and I was suddenly introduced to the very people that I had been citing in my work for the past 4 months. This is how Dick operated. He would find people that had similar interests and throw them together, be it via email, in person, or just by asking a very direct question during a meeting.

Dick would take many more chances on me over the years. He took me on as a PhD student and as a staff member. He introduced me to the world of genomic knowledge sharing and the HVP. While he gave me a fairly loose reign in all of these endeavors, he was always available and willing to help me at a moment's notice.

He was a man of remarkable vision, focus, and energy, but the thing that I will remember most about Dick is his willingness to place an enormous amount of trust in people so quickly and, in doing so, make them want to earn that trust.

Timothy D. Smith

It is a telling measure of the man he was that Professor Richard G. H. Cotton BAgSc PhD DSc AM, who had many initials within his name and more honors following it, was known to one and all as Dick.

Dick Cotton was indeed a man for all seasons, as insightful and visionary in his science as he was warm and giving in his personal interactions. He once described himself to the Australian Government Productivity Commission as a “Human Genetics Research Scientist and Family Farmer,” both of which roles illuminate the memories of all of us who had the good fortune of knowing him. A man of great personal energy and achievement, he was as well a great friend who always sought to cultivate collaboration and to assist the careers of all with whom he worked. Our strongest memories are of Dick travelling across the world drawing people together from far and wide to advance one or more of his many endeavors, particularly the teaching of research methods and selfless sharing of research results. Dick created and leaves behind an orchard of fellow scientists who will continue to share the fruits of his and all our research to improve the human condition through genetics.

Conover Talbot, Jr.

In the early 90s, as gene mapping began to impact the clinic in genetics, pediatrics and family cancer clinics, there was a pressing need to identify genetic variants, and a plethora of mutation detection techniques were developed. I first became aware of Dick's work through his publication on the chemical cleavage of mismatch mutation detection technique [Cotton et al., 1988], which was the most sensitive method available at the time. But as I discovered, there was much more to Dick than mutation detection technology. He already had a substantial body of scientific work behind him, including a major advance toward the generation of monoclonal antibodies [Cotton and Milstein, 1973]. He was a founder member of HUGO (“a UN for the human genome “ [Editorial, 2003]) and he took the international role and responsibility of the science of the human genome very seriously as a diplomat, a mentor, and a teacher.

HUGO supported an international effort in gene identification and mapping and laid much of the groundwork for the human genome project through the establishment of the Human Genome Mapping Project (HGMP). Initially, with modest financial support from medical research charities and funding bodies, this was a bottom-up international research collaboration coordinated by the HUGO committee and secretariat. Concurrent with these early gene-mapping efforts, the barriers to access to DNA as an analyte suddenly fell with the introduction of the polymerase chain reaction, bringing genetic testing within the range clinical genetics services. Thanks to his prior experience with clinical genetics at the Murdoch Children's Research Institute, Dick was keenly aware that the demand for genetic testing in the clinical setting would eventually outstrip the scale of activity in the research world. So from the outset, he was keen to see the benefits of genome research move into the clinical space where possible. He understood translational research to mean a very direct application of new knowledge and technology at the clinic. And he was farsighted enough to perceive the need for the sharing of genotype and phenotype data, leading to the formation of the HUGO mutation database initiative in 1992 (later to become the Human Genome Variation Society), the establishment and support for both gene and mutation nomenclature and the establishment of a series of scientific meetings like the 1995 HUGO Mutation Detection Meeting in Brno, hosted by Milan Macek. These were biennial meetings, and alternating between the International Mutation Detection Meetings, were the Mutation Detection Training courses that I later helped Dick to establish. It was at the Brno meeting where I first met Dick and we discussed ways and means of extracting and sharing mutation data from clinical genetics laboratory reports. He encouraged those of us working in diagnostics to see the value of data sharing early on, and inspired groups like the Leiden University Group to develop easy to use tools like the Leiden Open Variation Database [Fokkema et al., 2005]. At the same time, in the UK, a group of genetics laboratories secured funding to develop a diagnostic mutation database, which was the first of its kind in the world. Prior to its inclusion in the Decipher database in 2014, DMuDB hosted 51,585 variant reports from 132 member laboratories comprising variants from 219 genes.

In order to ensure that we were speaking about the same variants, the establishment of a mutation nomenclature was essential. In the days before a reference genome was available the development of such standards required, a major act of persuasion across the genetics and genomics communities. Fortunately, with his easy charm and quiet tenacity, Dick was a first class persuader. He established the Human Genome Variation Society and the HVP as vehicles to bring together interested parties around mutation detection and data sharing, with this journal as the affiliated society journal. And with major efforts not only from Dick, but from other colleagues such as Stylianos Antanorakis, Johan den Dunnen, and many others, an HGVS mutation nomenclature, the present day de facto international standard for clinical genetics, emerged [Deans et al., 2016], while the HVP is working closely with the Global Alliance for Genomics and Health to establish the next generation of genomics standards ad data sharing tools. Some informaticians new to the field may find the HGVS nomenclature system, which is not necessarily rooted in genomic coordinates (although it can be), a little obscure. Help is at hand in the form of software tools to convert between formats [Vis et al., 2015]. And when or if the current genomic vcf standard is developed to a point where would be clinically usable, it will need to incorporate many of the standards developed by the HGVS, as indeed Annovar [Wang et al., 2010] and the Variant Effect Predictor [McLaren et al., 2010] and other widely used annotation software tools already do. The reach of HGVS nomenclature includes the Human Gene Mutation Database [Stenson et al., 2014] and ClinVar [Landrum et al., 2014], essential tools in the emerging field of genomic medicine that owe so much to Dick's vision and enthusiasm.

Graham R. Taylor

I met Dick for the first time shortly before the Mutation Detection meeting in Visby (1995). At that time, we had common interests in the development of the chemical cleavage of mismatch (CCM) method that Dick had invented, because CCM combined with fluorescent labeling was promising 100% sensitivity of mutation detection and allowed screening of large PCR products. Our discussions on these methods stimulated my interest in all subsequent Mutation Detection meetings or practical workshops. Rather quickly, I noticed that seeing Dick again was a special event, which differed from meeting most other colleagues. In fact, before talking science and/or methods he would ask me about my family, about how things were going in France and in my laboratory and institute. This particularly warm approach to people transformed a professional relationship into a kind of friendship, even if we had few opportunities to see each other, except for some annual meetings. For my younger collaborators, who had few occasions to see Dick, his name was associated with the journal Human Mutation, which became for them and for myself the main place where to find high-quality information in the field of translational molecular genetics.

Dick contributed greatly to advances of many areas of biotechnology, particularly in the fields of monoclonal antibodies, of enzymology, of protein or DNA assays. But he also had a wide vision of the role of Science and its impact on Society. His concern for Society was the expression of his warm personality and of his interest for people. This is why I liked Dick so much, and I miss him. This special issue of Human Mutation, but also other future publications, should transmit to students and younger scientists the lessons from his personal qualities and from his work.

Mario Tosi

I first met Dick Cotton (he was Dick to all) in Heidelberg, Germany in 1996, almost 20 years ago. He was one of the organizers of the Second Meeting on Locus-Specific Mutation Databases that was held at EMBL after the end of the HUGO's Human Genome Meeting HGM’96. I still remember the excitement and atmosphere of the meeting. That was the time when disease-related genes and variations in them where published in increasing numbers and the very first variation databases were established. We had published the first versions of our BTKbase for variations in Bruton tyrosine kinase before the meeting.

We had bus transportation from the city to EMBL where lively discussion went on for several hours. Dick was chairing the event and made an impression. One of the key issues in that meeting was standards, especially variation nomenclature. Everybody seemed to have their own way of naming variants. Standards are still topical, although the nomenclature was elegantly solved. One thing led to another and soon after the meeting the HUGO Mutation Database Initiative, later Human Genome Variation Society (HGVS), was established and I became involved from the very beginning. Several years later, I also joined the HVP and have served in different roles. Dick was the driving force in starting and running both these activities. During these years, I met Dick frequently and learned to know him well. We were glad to have him as the keynote speaker in a conference in Lund, Sweden in 2014. He delivered an insightful and profound view of variation studies and human genetics in general.

Dick was a unique man. I miss his vision and wit as much as his laughter and easygoing style. He was a great visionary who was among the first ones to discuss about complete genomes and sharing information. He cofounded this journal since there was no suitable venue for variation articles. In similar way, he tirelessly worked toward his great goal of freely shared information about variations to facilitate what has later been started to call for precision/personalized medicine. His dedication, enthusiasm, and drive were unbelievable. He seemed to know everybody and was able to get them involved. That happened to me, as well. I ended up founding HGVS with him and others and served on the board for more than 10 years. Subsequently, I had frequent contacts with Dick as a member of the HVP scientific advisory board. I found from him a soulmate and large part of my research during the last two decades has been inspired by Dick's vision. We all have our memories of Dick. I will remember him as a humble man with great ideas who realized those visions that will have long-lasting impact.

Mauno Vihinen