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News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… People with sickle cell disease (SCD) can experience excruciating pain all over their … by SCD to find the factors - environmental, social and genetic - that impact the severity of symptoms. They hope to … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate iron … Hemochromatosis is one of the few genetic diseases for which there is a relatively simple and …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant … is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in … (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal … Down syndrome (also called Trisomy 21) is a genetic condition caused by an error in the process that … Down syndrome is a genetic disease resulting from a chromosomal abnormality. …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane … bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by … affects small, isolated populations, the effects of genetic drift can be strong, sometimes causing traits to …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, … FMF is considered a rare disease worldwide. However, it is very common in people of … backgrounds, about 1 in 200 has FMF. The availability of genetic testing has helped identify numerous cases among …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing …
Research Funding
The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … 11 that is affected). Chromosomes are packages of genetic characteristics. There are 22 pairs of chromosomes …