Search Results
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… between diabetes and previously unlinked ZRANB3 gene. … confirmed known genomic variants and identified a novel gene ZRANB3 , which may influence susceptibility to the disease in sub-Saharan African populations. The gene could … between diabetes and previously unlinked ZRANB3 gene. …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of genetic variants with a number of conditions … medical records in genomic research studies to understand gene-disease associations. A large number of samples in …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… certain skin problems, neurological signs, heart valve disease and certain autoimmune diseases have also been noted … with cognitive dysfunction is growing. Heart Valve Disease A type of heart valve disease called Libman-Sacks endocarditis is sometimes seen in …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… drugs treatment and/or assays to further define the disease in question. Most recently, Dr. Elkahloun scientific … of Mental Health); Dr. Kleinman (first temporal global gene expression across the human life span in normal and … in a cross comparative and integrative analysis of global gene expression profile, Dr. Elkahloun was able to show that …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… As an example, the researchers investigated the lactase gene, which encodes a protein that helps digest lactose and … panel, they analyzed how a genomic variant of the lactase gene is related to traits such as height, body mass index and … the researchers say it’s likely that there are other false associations in the literature and that some true …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… test to look for genetic variations associated with a disease. … can be used to confirm or rule out a suspected genetic disease. Results may also be used to determine the likelihood … test to look for genetic variations associated with a disease. …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.