Search Results
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …
Talking Glossary of Genetic Terms
Race is a fluid concept used to group people according to various factors including, ancestral background and social identity.
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… is important to the onset of symptoms and complications associated with SCD. Dr. Koehly's team is also reviewing …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX). The two types of hemophilia are caused by … Hemophilia A and B are diagnosed by measuring factor clotting activity. Individuals who have hemophilia A …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… dGTEx Project will establish a database, data portal, and associated tissue bank with data and samples from a minimum … (NHP dGTEx) Project will establish a resource database and associated tissue bank with data and samples from old world … dGTEx initiative is to establish a resource database and associated tissue bank to study gene expression patterns in …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … The NIH group first encountered a patient with the syndrome approximately 10 years ago. The patient, then 3 … The primary role for ADA2 protein is as a growth factor. Data from the zebrafish model suggest that this …
Educational Resources
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment.
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.
… their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. … us better understand the risk of chronic kidney disease associated with APOL1 variants,” said Adebowale A. Adeyemo, … us better understand the risk of chronic kidney disease associated with APOL1 variants across diverse environments. …