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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… at the forefront of genomics, such as implementing new genomic technologies and approaches, developing treatments … and into a worldwide revolution for expanding access to genomic data, knowledge and technologies. “My vision for the … Society of Human Genetics. He has received dozens of awards and recognitions, contributed to several books and …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… … Dr. Kastner was recognized for his work to uncover the genomic causes of multiple rare and debilitating … he is responsible for encouraging implementation of new genomic technologies, application of new treatments for rare … periodic syndrome (TRAPS). Dr. Kastner has won numerous awards and honors, including election to the National Academy …
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… — and we are excited to continue our efforts to bring new genomic therapies to patients. The Metabolic Medicine Branch … Branch investigators also use cutting-edge genetic and genomic techniques to find new genes implicated in metabolic … named inventor on 21 US patents. He has received numerous awards, including the Presidential Early Career Award for …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… at Harvard Medical School. He is the recipient of multiple awards, including the Outstanding Achievement Award from the … of invited lectures. He has received numerous honors and awards, and has sat on the editorial boards of a dozen …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… treatments. Among his contributions, he identified the genomic mutations that cause Diamond Blackfan anemia, a …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… diversity has a direct impact on our understanding of genomic variation among people, and in turn, how such … ethnicity and race are used as inexact proxies for genomic ancestry. But scientists still disagree on how these … build better genomics tools to accurately describe human genomic variation.” … Yen Ji Julia Byeon, Rezarta Islamaj, …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… New sequence reveals genomic factors in fertility, including sperm production. … … than 50% of the Y chromosome’s length, uncovers important genomic features with implications for fertility, such as … you haven't seen before, the hope is always that those genomic variants will be important for understanding human …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… Prabarna Ganguly, Ph.D. … Test for rare genomic condition measures disease severity and success of … if they would benefit from surgical or experimental genomic therapies that target the liver. The study results … Credit: Ernesto del Aguila III, NHGRI. MMA is a rare genomic disease that impairs the body’s ability to metabolize …
News
NHGRI has appointed Marcus G. Hodges, Ph.D., as director of its Intramural Training Office (ITO).