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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 . … Accomplishments in Genomic Medicine (OLD) …
Staff
Dr. Donna Messersmith is a provider education specialist in the Education and Community Involvement Branch at the National Human Genome Research Institute.
… Donna Messersmith, Ph.D., is a provider education specialist in the Education and … Human Genome Research Institute. She provides support for genomics education projects for health professionals, … maintenance and development of the Genetics/Genomics Competency Center (G2C2). In addition, Dr. Messersmith …
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.
… 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 … first seen at the NIH Clinical Center, researchers looked for infections and cancer as the cause. After those were …
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 …
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 … "weeding out" tests can only eliminate one diagnosis at a time. Questioning and family history can narrow down the … Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology; The University of Utah in Salt Lake City; …
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, it was charged … It's a huge challenge: There are an estimated 7,300 such … So far, researchers have identified the genomic causes for only about half. Individually, a rare disease may affect …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… Genomics is altering a genome with unparalleled efficiency … since we finished reading the human genome sequence for the first time, we have developed powerful new … cheaper, and more accurate than previous methods, and the method is now used in laboratories all over the world. …
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.
… 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 …
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.
… 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. … for the “open session” at 10:00 AM by live videocast. In addition, NHGRI will host a major strategic planning …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… In 2003, an accurate and complete human genome sequence was … ahead of the original Human Genome Project schedule and at a cost less than the original estimated budget. … the generation of full-length complementary DNAs (cDNAs) for more than 70 percent of known human and mouse genes. …