Search Results
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… central biorepository for storing UDN research participant tissue samples. "The Undiagnosed Diseases Network is aimed at … biorepository for storing UDN participant biological tissue samples used in DNA sequencing and other studies. This …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… Calf muscles initially enlarge and the enlarged muscle tissue is eventually replaced with fat and connective tissue (pseudohypertrophy). Muscle contractures occur in the … muscle fibers shorten and fibrosis occurs in connective tissue. Occasionally, there can be pain in the calves. …
Educational Resources
Microarray technology is a general laboratory approach that involves binding an array of thousands to millions of known nucleic acid fragments to a solid surface, referred to as a “chip.”
… DNA or RNA isolated from a study sample (such as cells or tissue). Complementary base pairing between the sample and …
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.
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 …
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 …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
File
… X3A . CONCEPT CLEARANCE – Developmental Genotype- Tissue Expression (RFA) – Jyoti Dayal Jyoti Dayal pr esented the Developmental Genotype- Tissue Expression (dGTEx) concept , which will be an addition … By doing so, the program would establish an atlas of tissue -specific gene expression data, enhance our …