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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 … National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… therapeutic strategies for both rare and common neurologic diseases. Over the past two decades the Sidransky group has … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into … Providing a Molecular Link between Parkinson and Gaucher Diseases. J Biol Chem , 286:28080-8. 2011. [ PubMed ] …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center … evaluation after acceptance in the UDP. The Undiagnosed Diseases Program pursues two goals: To provide answers to …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not … Genetic Mutation, Genes, Alleles, Recessive, Dominant … an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of … (RP) is the name given to a group of inherited eye diseases that affect the retina (the light-sensitive part of … type, only males are affected, while females carry the genetic trait but do not experience serious vision loss. …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program director …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.