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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… through mammography. Benjamin Solomon, M.D. , NHGRI clinical director and senior clinician in the NHGRI Medical Genetics Branch, wants to know if we can find a way to use …
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.
… leader of the NHGRI Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, now scientist emeritus … Institute (NHGRI) and was later named chief of NHGRI’s Genetics and Molecular Biology Branch. Dr. Bodine’s … founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… The grants will expand the network from seven to twelve clinical sites, increasing the geographical distribution of … network and the number of people with access to a UDN clinical site. Since opening to applications in 2015, the … of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN takes advantage of cutting edge …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… "It is time to bring together genomics researchers, clinical laboratories, social scientists, medical educators … of race and ethnicity data in genomics, biomedical, and clinical research , and its influence on minority health and … rigor in collecting racial and ethnic data, especially in clinical settings; standardize data-collection methodologies; …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… Should Attend The intended audience includes clinicians, clinical geneticists, social and behavioral scientists, genetic counselors, those involved with genetics and public policy, health educators, and other biomedical and clinical scientists with an interest in genetics, genomics …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… I was already in the U.S. finishing my training in medical genetics. After being exposed to clinical research here at NHGRI and other institutions … here at NHGRI. The rest is history. I fell in love with clinical research, and I decided to pursue a career …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… almost as a pre-diagnosis.  Lastly, we saw differences in clinical recommendations based on patient race. For example, … how medical students used polygenic risk scores in making clinical recommendations to virtual patients. The researchers …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… and efforts to enhance the diversity of the human genetics field. … Charles Rotimi, Ph.D., was awarded the … many international efforts to increase diversity in genetics and genomics. During his time as director of the … work with colleagues to form the African Society of Human Genetics , a forum for African researchers to convene and …