Search Results
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… also participates in the Developmental Genotype-Tissue Expression (dGTEx) project. Prior to joining as a …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… Dr. Troyer also co-managed the Developmental Genotype-Tissue Expression (dGTEx) program, which is establishing a resource database and tissue bank for studying gene expression during human …
Health FAQ
Discuss these questions with your doctor or health care provider.
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… and sometimes skin necrosis (a condition in which the skin tissue dies). Stroke and Other Neurological Disorders Stroke … the association of APS with SLE and other connective-tissue diseases, which also have a female predominance. If …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… with his or her genomic information collected from stored tissue specimens in biorepositories. "These studies are based … associations. A large number of samples in eMERGE tissue repositories have been genotyped - that is, the …
Research Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… rationale for variants chosen for study. Can human fetal tissue be used in proposed studies? There are special considerations for human fetal tissue use in NIH projects. For more information about NIH … NOT-OD-19-128 . Also see the FAQs page for human fetal tissue research . Are mammalian model systems other than …
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.
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… attempting to duplicate the clinical features of HD. Fetal tissue research: Investigators have implanted fetal tissue in rodents and non-human primates to better understand …