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News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Ganguly, Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… launched. I was there on the starting line, then a postdoctoral research fellow in the laboratory of genomics … to have been awarded one of the first center grants for the Human Genome Project by the then-named National … Genome Project’s launch will culminate with publishing the new 2020 NHGRI Strategic Vision. I urge you to monitor …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… Heart, Lung, and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, … of as many Mendelian conditions as possible. … It's a huge challenge: There are an estimated 7,300 such … In studying nearly 9,000 families, they have uncovered 470 new, previously unknown conditions and learned important …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… and symptoms, House and his team gather to generate a list of all possible causes and, through blood work and … or another is the most appropriate test. But this new way of practicing is not without its challenges. With … Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology; The University of Utah in Salt Lake City; …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… This most recent AGBT general meeting, which featured a special lineup of speakers to help celebrate AGBT’s … throughout the program. As we quickly move into the new decade, NIH has embarked on an effort to develop a new NIH-Wide Strategic Plan for Fiscal Years 2021-2025. This new plan would succeed …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… Green, M.D., Ph.D. … The research community recently lost a key contributor to the genomics revolution. Kary Mullis, … month. The 87th meeting of the National Advisory Council for Human Genome Research will take place on September 16. … human genetics and genomics specialists, has established a new strategic plan. Like NHGRI, ASHG periodically conducts …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to … back to the physical workplace. This will obviously be a complex and lengthy process! As has been the case for the … a recently published editorial in Science that describes a new NIH guidance that holds grantee investigators and …
News Release
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
… is the largest. Since Dr. Collins remained NHGRI director for five years after the completion of the Human Genome … (eMERGE) Network, among others. Some highlights from this new public collection include plans for data sharing from the … the Human Genome Project, including before there was even a genomics-focused institute at NIH. She led the project …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… has quickly become apparent that the year is going to be a very busy one for NHGRI and for the field of genomics more generally. Many … et al. Cell 185(25):4703–4716, 2022. PMC9793425  One method for studying the ancestry of a human population …