By Mark Wanner, Writer for the HUGO-JAX Initiative, The Jackson Laboratory
David Cox was among the HUGO Council members I was excited to interview and profile on this page at some point in the months ahead. His extraordinary career helped change human genomics from an intriguing concept to an important reality. His contributions to genomics research and medicine are immeasurable.
Sadly, this post is a memoriam. David Cox’s recent passing means that I will not be able to speak with him and share the excitement and warmth he shared with so many others. I can, however, present some of what he accomplished and share a few of his words, and those of others, to show what he meant to HUGO and the genomics community.
Recently, Cox worked in the private sector, focused on translating research progress into useful therapies. At the time of his death he was senior vice president at Pfizer, where he was credited with helping shift emphasis there toward the discovery of more targeted drugs. A company statement said, in part, “As the company’s lead geneticist based at our Rinat facility in San Francisco, David was a driving force in shaping Pfizer’s strategy on Precision Medicine, as well as our vision for the future of biomedical innovation.”
But perhaps his most enduring legacy is contained in the simple citation: Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Cox DR, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921. Cox was one of the innovators, one of the true pioneers in human genomics, and it is fitting that his name appears on the Nature paper announcing the draft sequence. Indeed, the lead author on the other paper announcing the draft sequence, J. Craig Venter, paid tribute via social media: “David Cox one of the early genomic leaders and a good man dead at 66. [A] real loss to genomic medicine and the scientific world.”
Cox’s education followed a linear path at first. He received B.A. and M.S. degrees from Brown University and set out for graduate school at the University of Washington, earning his Ph.D. in genetics then proceeding to medical school there, graduating in 1981. As documented in a wonderful interview he gave at Cold Spring Harbor in 2003 while at a symposium to celebrate the completion of the draft human genome sequence, his perceptions changed on the road to his M.D. “[I] always just wanted to be a doctor and I got sucked into research early on in college. And so when I was in the process of finishing medical school I realized that we didn’t actually understand how anything worked.”
Cox’s drive to understand how “anything” worked never waned. Having studied genetics, he was quick to appreciate that learning more about DNA biology would lead to better medicine. His medical specialty was pediatrics, but it was always enmeshed with his genetics research. After his pediatric residency at Yale, he completed a research fellowship in genetics and pediatrics at the University of California, San Francisco, then became an associate professor in pediatrics at UCSF in 1980. By 1991, he was a full professor in psychiatry, biochemistry and pediatrics as well as co-director of the UCSF Human Genome Mapping Center.
Soon after his research fellowship, Cox began thinking big. He said of that era: “So it was at that time in the early 1980s, that my dream from the point of view of medicine would be to have the entire sequence of the human genome so that we could basically know the DNA . . . But I thought it was crazy and everybody else thought it was crazy too . . . I realized it was possible and even though it seemed unlikely I got on board right away.”
Cox contributed greatly to the sequencing effort over the years in many ways, including through the development of radiation hybrid (RH) mapping. RH mapping is used to construct long-range maps of mammalian chromosomes by creating random x-ray breaks in chromosomes to determine distances between DNA markers and their order on the chromosome. In the days of Sanger sequencing, RH mapping provided genomics researchers with a powerful method to begin stitching together the relatively minute DNA sequence reads attainable at the time in the correct order. Cox and his colleagues first documented the technique in Science in 1990.
In 1993 Cox moved to Stanford University, where he served as professor of genetics and co-director of the Stanford Human Genome Center. His work at Stanford helps trace the arc of the human genome project, including gene mapping progress and new methods for detecting DNA sequence variation mixed with specific disease gene discovery research.
Cox’s influence extended far beyond his laboratory, however. In 2000 he co-founded Perlegen, a pioneering consumer genomics company. He was elected as a member of the Institute of Medicine, National Academy of Science, in 2001. He was also one of the founding members of HUGO, serving three terms on its Council while at Stanford and was serving a fourth term through 2014.
Cox is described by fellow HUGO Council member Mark McCarthy as “a powerful advocate for human genomics,” and his influence is seen in the very formation of the human genomics field. Upon completion of the draft reference human genome sequence, Cox said, “Now that we have it though I want to be alive to be able to use it in this correlative way.” And he was able to use it, to apply systems and genomic biology to therapy development and see the advent of genomic medicine.
In his tribute, HUGO President Edison Liu wrote: “The HUGO family is saddened by the tragic and sudden loss of our friend, colleague, and ardent supporter of HUGO, David Cox. David was not only a superb scientist, an institutional leader, and a driver of innovation, he was also a warm and supportive friend who had kind and helpful words whenever such were needed.” He continued, “Rarely in the course of a scientific development are there champions who bring such a confluence of talents that David Cox offered– fundamental science, clinical medicine, academia, industry, selfless commitment, kind heart.” David Cox will be missed.
Please find the following link to download the file for the Second Report of the European Research Area Board 2010 - Realising the New Renaissance (PDF file, 1.24MB)
For enquiries, please contact:
Deiene Ibargüengoitia Ordorica
Secretaria Cátedra Interuniversitaria de Derecho
y Genoma Humano
Universidad de Deusto
Avda. Universidades, 24
Tel: +34 94 413 92 87
Fax: + 34 94 445 55 13
HUGO Mourns the Loss of a Colleague and Friend
We welcome your thoughts and memories of Prof. Peltonen-Palotie’s life as well as the tremendous contributions she made to science and genetics. Please share your comments with us.
Professor Leena Peltonen-Palotie, past President of HUGO (2005-2007), sadly passed away March 10, 2010. Her premature death has left us with a deep sense of loss for a remarkable scientist, a respected leader, and a wonderful friend. The impact of her work, her imprint on the lives of her many students, and her stewardship of the many institutions that she led will be remembered. The whole HUGO community mourn her loss and send our prayers to the Palotie family in their grief.
We print below, the obituary released by the Academy of Finland. More about Leena Peltonen-Palotie (http://www.leenapeltonen.eu/)
Obituary: Professor Leena Peltonen-Palotie, Academician of Science
Professor Leena Peltonen-Palotie, Academician of Science, has passed away after a serious illness. Professor Peltonen-Palotie, MD, PhD, was awarded the honorary title of Academician of Science in October 2009 by the President of the Republic of Finland, an honor held by no more than twelve Finnish scientists and scholars at a time. Peltonen-Palotie was one of the world’s foremost and most respected experts in genetic research. Her research serves as an excellent example of how basic molecular biology can be combined with medicine to gain a better understanding of different diseases.
Peltonen-Palotie was the recipient of several international accolades, including the Antoine Marfan Award, the Anders Jahre Prize, the European van Gysel Prize for Biomedical Research and the Eric K. Fernström Prize.
Over her career that spanned 37 years, Peltonen-Palotie ran research groups at the University of Oulu, the University of Helsinki, the National Public Health Institute of Finland, the University of California Los Angeles, the Broad Institute of MIT Harvard in Boston and the Sanger Institute in Cambridge, UK.
Her team identified genetic mutations associated with dyslipidemias, lactose intolerance, MS disease, schizophrenia, obesity and heart diseases. The team also established how these mutations mechanically lead to the actual onset of disease. Their efforts have paved the way to new diagnostic tests and to screenings for disease carriers. She also excelled in training of young students for science, having, among other things, mentored more than 70 PhD theses, thus influencing and inspiring several new generations of scientists. Importantly, she was also very determined to pass on this new information about human genetics and disease to the general public, being always open to explaining these sometimes difficult issues in an open, clear and personal way.
In the next decade or two, many of us will probably have our personal genomes sequenced. As of now, however, only a few hundred people in the world have had their genomes sequenced at various degrees of coverage although some individuals may have had their genomes sequenced privately. And of these, less than 50 are publicly available including the first ten participants in the Personal Genome Project (PGP-10), an initiative of Harvard Medical School.
The latest people to have their whole genomes sequenced are five southern Africans – four Bushmen hunter-gatherers and Archbishop Desmond Tutu. The data generated from these genomes will help supplement current genomic information which primarily focus on European and East Asian populations.
From the New York Times:
African genomes are of particular interest for understanding human genetic history because they have more variation in their DNA than other populations. Everyone outside Africa is descended from a small group that left some 50,000 years ago, carrying away only a small sample of the available genetic diversity.
Although the Bushmen will most likely not be in attendance, on April 27, 2010, members of the PGP-10 will be at the Genomes Environments Traits (GET) Conference in Cambridge, MA along with James Watson. The aim of the GET Conference is to “collect everyone with a personal genome sequence on the same stage to share their experiences and discuss the important ways in which personal genomes will affect all of our lives in the coming years.”
Only 200 seats total will be sold for this conference and only 32 tickets are remaining at the initial $999 price. Proceeds from the conference will benefit the Personal Genome Project which will be enrolling 100,000 members of the public who agree to share their genome sequence and personal information to further our understanding of genetic and environmental influences on human traits and diseases.
The press release for the GET Conference is below the fold.
The Human Genome Organisation (HUGO), one of the oldest genome organisations, is pleased to announce the re-election of Professor Edison T. Liu as its President, effective 1 February 2010 by the HUGO Council, the governing body of the organisation.
Professor Liu is the Executive director of the Genome Institute of Singapore and has been a council member and President of HUGO since 2007. Since 2007, the President under the direction of the HUGO Council has made significant changes in the organisation. Membership rules were restructured, web and social networking for the organisation established. A new journal, the HUGO Journal has been initiated with Springer Publishing Group, and the symposia schedule enhanced. More recent collaborations with the WHO, the Archon X Prize, and the OECD have extended HUGO’s participation in global policy making.
Professor Liu says: “I am honored and rather humbled at being asked to continue my role in HUGO for another term. These are unusual times for the field of genomics characterized by dramatic changes in technologies which augment the impact of our science. What excites me is that, as a professional and scientific organisation, we can make a difference in helping humanity solve some of our most serious problems in health, food, and energy. The science is strong, that the role of our individual members in their personal capacities is to push that science, but HUGO will need to guide that science through thought leadership and policy discussions. We have many challenges ahead. ”
Are you attending the 59th Annual Meeting of The American Society of Human Genetics next week in Honolulu, Hawaii?
HUGO will be at booth 333. Come by and have a chat with members of the HUGO Gene Nomenclature Committee. Also drop off your business card or contact info and stand a chance to win one of 10 complimentary HUGO memberships. There are many benefits to becoming a HUGO member so don’t miss this opportunity!
By HUGO President Prof. Edison T Liu
Welcome! Today marks the launch of HUGO Matters, the official blog of the Human Genome Organisation. It also marks HUGO’s foray into the world of social media.
Prior to the widespread use of the Internet, the scientific world tended to be insular, self-contained, and often removed from public input. In contrast, today’s research environment spans the globe and is made stronger from interactions amongst scientists and with those who are not directly involved in research. At the heart of social media are web-based technologies to foster discussions, share knowledge, and encourage participation. HUGO is also committed to such goals as they apply to genetics and genomics worldwide. So, we are taking the innovative step into social media to harness the power of blogging and social networking at Facebook, LinkedIn, and Twitter.
HUGO Matters is the central hub for HUGO’s social networking efforts. The blog will serve as a platform for discussions on genome technology, genomics and ethical, legal, and social issues, intellectual property, education, latest research techniques, and other topics relevant to genomics in the 21st century. Contributors will include myself, editor Dr. Hsien-Hsien Lei, HUGO Council and Committee members, fellow HUGO members, and genetic and genomic scientists/researchers from around the world. We will also use the blog to communicate HUGO’s latest events and happenings, including exclusive behind-the-scenes look into how an international scientific organisation is run. Over the next few months, HUGO has plans to facilitate greater interaction and activity on Facebook, LinkedIn, and Twitter, hopefully creating a virtual scientific community that spans the globe.
As a start, we are offering free meeting registration to readers of the HUGO Matters blog for next month’s HUGO Genomics and Ethics, Law and Society Symposium in Switzerland. (Please see this previous post for more details.) We will also be offering complimentary HUGO memberships to readers of this blog and attendees of the 59th Annual American Society of Human Genetics Meeting in Hawaii. Details will be announced later this week.
Please leave your comments here at HUGO Matters as well as post questions, concerns, thoughts and ideas at any of our locations on the Web. We look forward to collaborating on achieving HUGO’s missions.
Becoming a HUGO member is a special privilege open to all genetic and genomic scientists/researchers. Besides the importance of being affiliated with one of the most prestigious scientific organisations in the world, members also receive the following benefits:
- Reduced registration fees for HUGO events, conferences and training courses
- Annual voting to elect members to HUGO Council
- Access to announcements and information on this website
- Reduced subscription rates to two leading journals, The Annals of Human Genetics and Clinical Genetics, both published by Blackwell Publishing
- Reduced subscription rates to Science and AAAS
- Young scientists can apply for the HUGO Travel Award for educational visits
- Rights to nominate and vote at HUGO Council Member Election
- HUGO member network
- Free access to The HUGO Journal Online
- Discount for The HUGO Journal print subscription
Simply register online and upload the following documents to complete your application.
- Full contact details
- 1 page CV
- List of no more than 5 recent publications
- Brief statement about your research interests
For further enquiries, please feel free to email us at firstname.lastname@example.org
HUGO membership is on annual renewal.
Students / Post Doctoral Fellows: £35
For more information, see the HUGO membership FAQ.
In less than two months, the Human Genome Organisation will be sponsoring a symposium on genomics and ethics, law and society focusing on the sequencing of individual genomes and its impact on society and ethics. The symposium will be held from 1 to 3 November 2009 in Geneva, Switzerland.
For two readers of the HUGO Matters blog, we’re excited to offer free registration (transportation, accomodations, and meals not included) worth $860 USD. All you have to do is email email@example.com telling us what you hope to gain from attending the meeting and how you plan to share your experience, such as via Twitter or your blog.
The symposium promises to be thought provoking with experts from all over the world, abstracts of latest research, and exhibitors. Topics include:
- Science & Its Capabilities
- Personal Genomics: Redefining Privacy, Choice and the Internet
- Genetic Determinism, Discrimination, Exceptionalism and Selection
- Equity and Justice: Access & Participation in the Developing World
- Open Access, Open Markets: Intellectual Property?
Please let us know in the comments if you’re planning to attend!
When you think of the Human Genome Organisation, what words come to mind?
- Genome technology
- Applied genomics
- Science policy
- Broker of ideas and strategies
- Genomics and global health
- Genomics medicine
Words that describe genetics and genomics in the 21st century.
And in the 21st century, this HUGO mission statement is the most critical at this stage of rapid development in genome technology:
To foster the interaction, coordination, and dissemination of information and technology between investigators and the global society in genomics, proteomics, bioinformatics, systems biology, and the clinical sciences by promoting quality education, comprehensive communication, and accurate, comprehensive, and accessible knowledge resources for genes, genomes and disease
This mission will be impossible to achieve without strong leadership. Taking a look back at recent achievements in the field of human genetics, there have been growing numbers of associations found between genetic variants and various traits and conditions. These results are mostly from genome-wide association studies that have become a matter of routine. Unfortunately, the capability to analyze and understand the data that come from such studies remains limited by computing power and biological knowledge. Only a fraction of the the overwhelming flow of data has truly been fully analyzed and thoroughly understood.
Similarly, personal genomic testing companies that deliver data on thousands of SNPs for every customer are available as well but the impact on consumer health is still not clear. Not far behind, whole genome sequencing will be widely available within a few years for the target price of $1,000 per genome.
What will we do and what should we do with all this information?
There needs to be an unbiased, international organization willing to take the lead in organizing, evaluating, and guiding the use of genome technology and the application of genetic data in both the private and public sectors. HUGO is up to the challenge.
Photo: Singapore’s Marina Bay Pedestrian bridge symbolizes DNA’s double helix and highlights Singapore’s aspirations as a biomedical hub.