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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 ] …
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.
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 …
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. …
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 …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
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.
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
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … to improve upon the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's … on average, 6.6 faulty genes in people with undiagnosed diseases compared to 5.8 faulty genes in their healthy …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the Center for Research on Genomics and Global … in Mediterranean populations. For this, they performed genetic analysis on a large cohort of 2,313 Turkish …