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News Release
The National Academy of Medicine elected Dr. Charles Rotimi, CRGGH Director, as one of its new members.
… On October 15, 2018, the National Academy of Medicine elected Dr. … in this esteemed organization were described as follows: For groundbreaking research in African and African ancestry … locally and globally. Congratulations to Dr. Rotimi for this outstanding honor! …
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.
… process continues to move forward, gathering early ideas for further exploration and feedback about the process … the various strategic planning events, please sign up for email updates and monitor the 'Genomics 2020' calendar … touring North America. Current : June 23 - September 15, 2018 Mayo Clinic Rochester, Minnesota Next : October 6, …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… April 2023 was a notably festive month for NHGRI, as we celebrated three anniversaries — the 70th … Council for Human Genome Research will take place on May 15 and 16. The open session of the meeting will be videocast live on Monday, May 15. Please join us via GenomeTV starting at 10:30 a.m. ET to …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. … breathing problems in which breathing stops or slows down for short periods (apnea). Other health issues include … 99 percent of individuals who have achondroplasia. Testing for the FGFR3 gene mutation is available in clinical …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… recently teamed up with colleagues at the National Center for Biotechnology Information to develop a graphical display … complete human genome sequence would [have required] about 15 miles of hallway.” Check out a video tour of this new … Society of Human Genetics (ASHG) Annual Meeting held Oct. 15-19, 2019; a workshop on “Integrating the Past and Future …
The Genomics Landscape
In the May 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the Human Genome Project receiving the 2017 Prince Mahidol Award.
… their Fiscal Year 2018 budgets. The news was worth waiting for! Overall, NIH was the recipient of an 8.8% increase … increase. This represents the largest budget increase for NIH and NHGRI in well over a decade, and provides new funds for a number of critically important areas of research. NHGRI …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Investigator, NHGRI 10:05 - 10:30 a.m. Genomic Therapies for Methylmalonic and Propionic Acidemia Charles P. Venditti, … Acyl Modifications in MMA PamelaSara Head, Ph.D. 12:50 - 1:15 p.m. Mechanisms of Cardiomyopathy in Propionic Acidemia Maria Fernandez-Velasco, Ph.D. 1:15 - 1:35 p.m. Liver Transplant and Cardiomyopathy in …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… their origins at Washington University, and I am grateful for my extensive ties to this outstanding institution. As the … are available on the ' Establishing a 2020 Vision for Genomics ' website. NHGRI will host a Town Hall at the … touring North America. Coming Soon : June 23 - September 15, 2018 Mayo Clinic Rochester, Minnesota …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… For many years, Tonya and Cody Hanson's parents didn't know … that had to be suctioned from each child's lungs every 15 minutes for the first three years of their lives. … and do the best we can.' We were always figuring out life for the first time. Everything was new." <p>In 1980, …
About Genomics
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… The history of genomics told through machine learning: A celebration of 10 years of the NHGRI history program August …