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Vol. LXV, No. 12
June 7, 2013
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10th Anniversary of Human Genome Project Celebrated

On the front page...

NHGRI director Dr. Eric Green

NHGRI director Dr. Eric Green

Setting aside the project at her bench in the Silvio O. Conte Bldg., Hadley Bloomhardt, a National Human Genome Research Institute post-baccalaureate research trainee, ventured across campus to Natcher Conference Center on Apr. 25. She joined attendees of a day-long symposium at Kirschstein Auditorium organized by NHGRI to commemorate the 10th anniversary of completion of the Human Genome Project (HGP).

“The Genomics Landscape a Decade after the Human Genome Project” symposium featured a roster of speakers from various scientific disciplines, each of whom spoke about the impact of genomics since the sequence of the human genome was completed 10 years ago.

“I am only aware of where the field is now, but not necessarily where it started and how much it has changed,” said Bloomhardt, a member of the human development section of the Genetic Disease Research Branch. “I heard talks at the symposium on subjects ranging from newborn exome sequencing and the role of genomics in cancer to disparities in access to genetic medicine. It is clear to me from this day that genomics will play an enormous role in virtually all areas of medicine in the future.”

Continued...

The symposium coincided with the date, 60 years earlier, when discovery of the double-helical structure of DNA was published in Nature and the month, 10 years earlier, when the HGP reached completion. Bloomhardt would not likely remember the fanfare that accompanied the HGP completion announcement. But on this day in 2013, the historic context of the HGP and the ongoing impact of the project came into view.

NHGRI director Dr. Eric Green set the stage for the day of scientific presentations. He noted that generating the first human genome sequence required 6 to 8 years of active sequencing and cost about $1 billion. Advances in DNA sequencing technologies since then have reduced both the cost and time required to sequence a human genome to just a few thousand dollars and a few days, respectively.

HGP anniversary panelists included Harvard’s Dr. David Williams Dr. Nancy Cox of the University of Chicago
HGP anniversary panelists included Harvard’s Dr. David Williams Dr. Nancy Cox of the University of Chicago

NIH director Dr. Francis Collins, who was at the helm of NHGRI during the HGP, described it as so compelling, game-changing and interdisciplinary that it attracted some of the best and brightest of our generation. Dispelling the notion that the HGP was the end of the line for genome sequencing, he emphasized, “We are still not in the post-genomic era.”

Future challenges in genomics include the need to generate data sets that scientists depend on to understand biology, train future scientists and develop treatments for the diseases that are now better understood due to genomic advances, Collins said. He observed that the molecular basis of almost 5,000 rare genetic disorders has been described, but treatments are available for just 200 of those. He hopes that NIH programs, such as the recently established National Center for Advancing Translational Sciences, can help address the gap between those numbers.

Thirteen speakers from leading research institutions around the country painted a multifaceted picture of genomics. Their talks tied genomics to fields as diverse as anthropology, oncology, developmental biology, microbiology, pharmacology, public health and museum studies. Here is a sampling from those presentations:

  • Dr. Kirk Johnson, director of the National Museum of Natural History at the Smithsonian Institution, described a new 12,000-square-foot museum where scientists are using genomics to address the problem of declining biodiversity. He said that Smithsonian biodiversity researchers, who traditionally have relied on the established taxonomy of species and genera, have since realized that genomics is a powerful way forward. He also enthusiastically described the exhibition, “Genome: Unlocking Life’s Code,” developed through a partnership between the museum and NHGRI. The exhibition will open June 14. For information, visit http://unlockinglifescode.org/.

  • Dr. David Kingsley, a developmental biologist from Stanford University, described physical adaptations that distinguish multiple varieties of sticklebacks—fish whose marine habitats have influenced the expression of their genes. Kingsley’s laboratory identified a gene that, when mutated, impairs formation of a spiny pelvic fin—an advantage for ocean sticklebacks who must defend against soft-mouth ocean predators, but disadvantageous to freshwater sticklebacks. Researchers in the Kingsley laboratory have been able to manipulate the gene in the freshwater, finless variety, growing the fin that evolutionary adaptation had eliminated.

  • Dr. Claire Fraser, director of the University of Maryland Institute for Genome Sciences, described a core set of functions that are carried out by different suites of microorganisms in the gut. She discussed a study that is helping to determine the effect of the gut microbiome on immunologic response in animal models, following immunization against a bacterial infection called shigellosis.
Dr. Claire Fraser Dr. David Botstein Dr. Levi Garraway

Also on the panel were (from l) Dr. Claire Fraser of the University of Maryland, Dr. David Botstein of Princeton University and Dr. Levi Garraway of Dana-Farber Cancer Institute.

Photos: Maggie Bartlett

  • Harvard University’s Dr. David Williams discouraged the assumption that genomic research breakthroughs will reach all populations and recommended that systematic efforts be made to ensure equitable access to genomic medicine. “Minorities have elevated levels of illness even at comparable levels of education and income,” he said. “Your zip code is a stronger predictor of health than your genetic code.”

  • University of Chicago geneticist Dr. Nancy Cox acknowledged her good fortune in witnessing the genomic discoveries of the past 10 years. “The things that have been highly significant and reproducibly associated with common diseases and complex human traits, to date, really are the tip of the iceberg of what there is in even the genotype-level surveys that have been done,” she said.

  • Dana-Farber Cancer Institute researcher Dr. Levi Garraway addressed the genomics of cancer, with particular emphasis on expanded understanding of the complex nature of the disease made possible through genome sequencing. Cancer occurs in the presence of recurrent mutations, so the field of research is not only focused on genes implicated in the disease, but also on the metabolism of cancer in relation to genome mutations. Garraway outlined a set of best practices for the introduction of genome sequencing into clinical oncology practice.
    Dr. David Kingsley of Stanford University described genetic studies with stickleback fish.

    Dr. David Kingsley of Stanford University described genetic studies with stickleback fish.



  • The task of summarizing the symposium fell to geneticist Dr. David Botstein of Princeton University. He hailed advances in comparative genomics as the grand unification of biology and enumerated discoveries that were promised at the start of the HGP and many others that have been a surprise. “It’s the genome that started a whole field of biology, which seeks to understand how genes and proteins talk to each other,” he said. “That has got to be the way of the future.”

NHGRI organizers scheduled the symposium and other commemorative events to give the NIH community and as many people as possible across the country an opportunity to celebrate the HGP completion a decade earlier. Green offered directions to the forthcoming genome exhibition at the National Museum of Natural History: “Go to the Hope Diamond and take a left,” he said, adding that the exhibition will occupy Hall 23, a number whose significance was not lost on audience members, many of whose work entails sorting through the 23 pairs of human chromosomes in the human genome.

Video recordings from the symposium are at www.genome.gov/27552257.


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