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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, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. …
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. … down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic … low-density lipoprotein cholesterol levels, a major risk factor for heart disease. The study, published in the …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder …
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.
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… Cancer, Cell Division, Mutation, DNA Error, Metastasis, Tumor, Family Health History …
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 …
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 … world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, … and revealing only three of the genes to be definitively associated with the most common form of the disease. The work …
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 …
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
… Autosomal Dominant, Dominant, Birth Defect, Mutation, Syndrome …