Search Results
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 …
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 …
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 …
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 …
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 …
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 …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… ClinGen panel also validates three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world … glaucoma and familial hypercholesterolemia to name a few — periodic classification of a number of gene-disease pairs is …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.