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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… approaches and improved medical management strategies for genetic disorders. At the heart of the OCD mission is the … finding new and better ways to help patients affected by genetic disorders. … To achieve its goals, the OCD focuses on … training programs in Medical Genetics and Genomics and Genetic Counseling.  To promote a spirit of collegiality and …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… on the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic … create mouse models to test novel small molecules to treat genetic skeletal diseases. They use contemporary genetic and genomic techniques to identify new genes, study …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic contributions to human disease. … Genomics is, … techniques to explore the effects of thousands of genetic variants, providing insights into the principles …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder … cell to 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, …
Event
The Division of Intramural Research (DIR) sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research.
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus … reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. Bianchi, M.D., senior …
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.
… (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana … African countries, where many African Americans derive genetic ancestry . Studying how these genomic variants … effects of these high risk APOL1 variants. Knowing your genetic risk for a disease, such as kidney disease, can help …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
News Release
The Social Genomics Project aims to understand what people around the world think about the intersections between genomics, genetics and society.