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An oncogene is a mutated gene that contributes to the development of a cancer.
… a cancer. … Carcinogen, Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene is a mutated gene that …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… substantially improves identification of genomic variants associated with blood lipid levels. … In a large-scale study … low-density lipoprotein cholesterol levels, a major risk factor for heart disease. The study, published in the … low-density lipoprotein cholesterol levels, a major risk factor for heart disease. … In a large-scale study of people …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, … studies in the ClinSeq® cohort include discovery of a gene associated with coronary artery calcification using … AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet , …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… … Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri Du Chat Syndrome … Monosomy refers to the condition in which only one … monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. … Monosomy refers to the …
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… … Cancer, Cell Division, Mutation, DNA Error, Metastasis, Tumor, Family Health History … Cancer is a disease in which …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… breakthroughs now allow the detection of circulating tumor DNA (or ctDNA ) in the blood of patients instead of directly sampling the tumor. As cancer cells grow very fast and die, they release … there are a few examples of inherited cancers like Lynch syndrome (also known as hereditary non-polyposis colorectal …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder … Autism is a condition …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… Lung and Blood Institute in 1990 where he focused on IL2 receptor-associated kinase signaling and the search for the IL2Rg … rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies are in the …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… soon by a rare genetic condition known as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN). SJS/TEN is the … victim to the fatal genetic condition, Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN. Photo … the small portion of individuals that carry a genetic risk factor will develop the disorder," she said. "We think if we …