20-year anniversary of publications reporting the draft human genome sequence
The Biden administration will feature three individuals with strong ties to NHGRI. Dr. Francis Collins will continue as NIH director, Dr. Eric Lander will serve as President Biden’s science advisor and director of the White House Office of Science and Technology Policy (OSTP), and Dr. Alondra Nelson will serve as OSTP deputy director for science and society. I look forward to working with them in the coming months!
In case you missed it live, the first seminar in the new Bold Predictions for Human Genomics by 2030 seminar series is now available for viewing. Featuring Drs. Karen Miga and Evan Eichler, the seminar focuses on Bold Prediction #1 from the 2020 NHGRI Strategic Vision — Generating and analyzing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as carrying out a DNA purification. The second session of the series will occur on March 8 and will feature Drs. Nancy Cox and Neville Sanjana.
Finally, the 92nd meeting of the National Advisory Council for Human Genome Research will take place on February 22-23. As usual, the “Open Session” of that meeting will be videocast live on Monday, February 22. Please join us via GenomeTV starting at 10 a.m. ET to hear updates about NHGRI and genomics research more broadly.
All the best,
In this issue
20-year anniversary of publications reporting the draft human genome sequence
Twenty years ago today, scientists, government officials, members of the press, and leaders of the Human Genome Project (HGP) crowded into a conference room in downtown Washington, D.C., to publicly unveil the major scientific highlights derived from the first look at the draft sequence of the human genome. A few days later on February 15, 2001, Nature and Science published the major papers describing those findings. The papers were the products to two efforts — one publicly funded and one privately funded. The initial analyses of the draft human genome sequence revealed information about the number of genes, mutation rates, and patterns of genomic variation in the human genome. The two papers also described how technology development, analytical methods, and intensive collaboration enabled the enormous scientific achievement of generating a draft ordering of the ~3 billion chemical units in human DNA.
It has been a banner year for significant genomics anniversaries, this one being the third of three featured in recent issues of The Genomics Landscape. The HGP was launched in October 1990; NHGRI celebrated the 30th anniversary of that milestone in October 2020. In June 2000, President Bill Clinton held a press conference at the White House to announce the completion of a draft human genome sequence; NHGRI and genomics researchers reminisced about that achievement on the 20th anniversary of the White House event in June 2020. And here we are celebrating the 20th anniversary of the landmark papers reporting that feat and the initial findings from analyzing the draft human genome sequence.
Acknowledging these anniversaries serves both to celebrate genomics as a field and to express the deep respect for the HGP pioneers whose accomplishments are having a long-lasting impact. In generating the first draft human genome sequence, these dedicated researchers created resources, technologies, policies, and a way of pursuing biological research that has propelled genomics into a dynamic and powerful scientific field that now permeates all of biology and powers biomedicine.
From the early meetings in the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of Energy’s efforts to organize the HGP, and to the National Institute of Health’s leadership throughout the HGP, generating the sequence of the human genome has forever changed biomedical research. The International Human Genome Sequencing Consortium committed to rapid data sharing, fostering a new culture that promoted open science. Later, the development of new DNA sequencing technologies and the resulting reductions in the cost of DNA sequencing has enabled genome sequencing to become a widespread research and, increasingly, clinical tool.
Recently, Bob Waterston, M.D., Ph.D., former director of the Washington University Genome Sequencing Center, and Jane Rogers, Ph.D., former head of sequencing at the Wellcome Trust Sanger Institute, video chatted with NHGRI staff about their experiences leading two of the major HGP genome sequencing centers and contributing to the International Human Genome Sequencing Consortium’s publication in Nature.
“It provided a view of the whole landscape for the first time,” Bob Waterston said about the draft human genome sequence. “I can remember looking at sequence coming off the machines and popping it up on my computer and thinking this is four million years in the making and I’m the first person to look at it . . . to be reading our genome and have it all there . . . was spectacular.”
Regarding the initial examination of the newly generated human genome sequence, Jane Rogers said she was “impressed at how many analyses could be done with the draft sequence. It really was quite amazing to come up with what we did [and to] have the global view and also to have tools that began to allow you to access different parts of the genome — and to be able to view it at different levels on a whole genome scale down to the individual sequence data.”
Twenty years ago, the authors of the landmark Nature and Science papers appreciated the historic significance of their publications, while also realizing that their accomplishment was just the beginning of the journey to understand the human genome. As aptly stated in the International Human Genome Sequencing Consortium’s paper: “Finally, it has not escaped our notice that the more we learn about the human genome, the more there is to explore." Undoubtedly, the ever-growing field of genomics, which is truly the legacy of the HGP, will continue to offer up enticing scientific mysteries to be explored in the decades ahead.
For more information about the history of the Human Genome Project, please see NHGRI’s updated Human Genome Project Timeline of Events.
New NHGRI resource features pediatric mitochondrial disease and COVID-19
A new NHGRI resource about pediatric mitochondrial disease and COVID-19 is now available. COVID-19 poses a significant threat to children with mitochondrial disease. In fact, when these children get sick with any virus, they are more likely than others to suffer severe complications, and the experience can be life-threatening. The new FAQ page, developed by NHGRI intramural researcher Peter McGuire, M.D., provides details about pediatric mitochondrial disease, steps that have been taken to address the COVID-19 pandemic in the mitochondrial disease community, and the important role vaccinations have in helping caregivers and family members protect children with mitochondrial disease from the harmful effects of COVID-19.
NIH celebrates Rare Disease Day
Rare Disease Day is held worldwide to raise awareness among policymakers and the public about rare diseases and their impact on patient’s lives. The National Center for Advancing Translational Sciences and the NIH Clinical Center sponsor Rare Disease Day at NIH annually as part of this global observance. This year, the event will be held virtually on Monday, March 1, from 10:30 a.m. to 5:30 p.m. ET and will feature interactive panel discussions, TED-style talks, and more. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and the NIH research collaborations underway to address scientific challenges and to develop new treatments. The event is free and open to the public.
Neil Hanchard joins NHGRI Intramural Research Program
Neil Hanchard, M.D., Ph.D. has joined NHGRI as an investigator within the newly named Center for Precision Health Research (formerly the Medical Genomics and Metabolic Genetics Branch) in the institute’s Intramural Research Program. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the center and will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and traits in diverse populations. His efforts will integrate laboratory-based and clinical research to study several pediatric diseases, including sickle cell disease, severe childhood malnutrition, pediatric HIV in Africa, and childhood-onset essential hypertension.
NHGRI Scientific Director Dan Kastner awarded Crafoord Prize
NHGRI’s scientific director and director of the Division of Intramural Research, Dan Kastner, M.D., Ph.D., has been awarded the prestigious Crafoord Prize in polyarthritis by the Royal Swedish Academy of Sciences for his pioneering work in “establishing the concept of autoinflammatory diseases.” His work was described in a recent CNN story. The award follows a particularly prolific and impactful year for Dr. Kastner and his group’s research into autoinflammatory diseases. Throughout his career, Dr. Kastner has greatly advanced our understanding of the genetic causes of autoinflammatory diseases.
Maximize the usability of genomics for all members of the public, including the ability to access genomics in healthcare — engagement, inclusion, and understanding the needs of diverse and medically underserved groups are required to ensure that all members of society benefit equitably from genomic advances, with particular attention given to the equitable use of genomics in healthcare that avoids exacerbating and strives towards reducing health disparities.
Genomics is a young science. This presents us with a tremendous opportunity to break from past practices and translate our advances so that they are available to all. To do this, we need to advance policies that require equitable access to genomic resources, generate educational materials for a wide range of communities, and insist that clinical implementation research starts with those who have historically been left behind. Achieving these goals will require forging new paths and working with new communities. Teaching others, exploring the unknown, and benefiting all — three of the best reasons to be a scientist.
Lawrence Brody, Ph.D. (Director, NHGRI Division of Genomics and Society)
Seminar Series: Bold Predictions for Human Genomics by 2030
Session 2: March 8, 2021, 3 p.m. to 4:30 p.m.
Prediction: The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception.
Speakers:
- Nancy Cox, Ph.D., Vanderbilt University
- Neville Sanjana, Ph.D., New York Genome Center
Moderator:
- Carolyn Hutter, Ph.D., NHGRI
About The Genomics Landscape
A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.
Last updated: February 12, 2021