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Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… The Metropolitan D.C. Medical Genetics Program also offers new subspecialty training in a combined program of maternal-fetal medicine and med genetics in collaboration with the Washington Hospital Center Maternal-Fetal … a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and …
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.
… pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and … and decreasing oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course of a lifetime, … by SCD to find the factors - environmental, social and genetic - that impact the severity of symptoms. They hope to …
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 absorption. … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate … heart, pancreas, joints and pituitary gland, leading to diseases such as cirrhosis of the liver, liver cancer, …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Autosomal dominance 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 …
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 located on chromosome number 11. Babies born with … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for …
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 replicates and then divides up the pairs of chromosomes during cell division, resulting in the …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of … of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and … in the section has been to discover the causes of genetic diseases. Over the years, section members have …
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 random fluctuations in the frequencies of alleles from generation to generation due … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… an inherited disease, characterized by recurrent attacks of fever, inflammation of the abdominal lining (peritonitis), inflammation of the … disease worldwide. However, it is very common in people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and … 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.
… Six new grants from the National Institutes of Health (NIH) will support … new computational approaches for searching among millions of genomic variants to find those that make a difference in … of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last …