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. …
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 …
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 …
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
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… projects. To this end, she has concentrated on developing gene-editing protocols that will provide more efficient means … an updated guide for protocols using CRISPR/Cas9 and other gene-editing tools. This guide is provided on the in-house … the publication, Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
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.