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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
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… UDN takes advantage of cutting edge technologies such as genomic sequencing, metabolomics and assessing patient … the National Human Genome Research Institute's Division of Genomic Medicine. Five new clinical sites will join the …
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 Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… why receiving information about their children's genomic risk of obesity led some mothers to make healthier … who received the strongest messages about their children's genomic risk for obesity were less subject to a type of … Persky and her collaborators are exploring the impact of genomic information on decision-making and behavior, 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 … Dr. Kastner's research has focused on understanding the genomic underpinnings of inherited disorders of inflammation …
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
… research with brilliant colleagues, using the best genomic technology and data sets. We’ve worked with … and the NIH Clinical Center who see patients and used our genomic tools to find ways of treating them effectively. … everyone has a clear and deeper understanding of how their genomic information, including their microbes, impacts their …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Andreev, NHGRI.  … We’re interested in understanding how genomic variation leads to differences between individuals, … toxins in humans. “We’re interested in understanding how genomic variation leads to differences between individuals, …
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 …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
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.
… Clinical Associate Investigator, NHGRI 10:05 - 10:30 a.m. Genomic Therapies for Methylmalonic and Propionic Acidemia … acidemias with clinical and scientific partners to develop genomic and small molecule therapies for a number of the … in several upcoming small molecule, enzyme replacement and genomic phase I/II clinical trials. … Scientific Updates on …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.