Search Results
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… diseases when the suspected carrier has no symptoms of the disease, but that person’s offspring could have the disease if the other parent is a carrier of a harmful variant in the same gene. … Carrier screening is …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical medical … genetics program; emphasizes clinical research, one of the few programs to do so; and grants access to the vast …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… characterized by dramatic, rapid aging beginning in childhood. The treatment was made possible thanks in part to work at the National Institutes of Health over nearly two decades to identify and understand the function of the mutant gene and the protein it encodes (called …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… diseases … Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder … Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 … mutations in the UBA1 gene. … VEXAS syndrome, inflammatory disorders, ubiquitylation, Undiagnosed Disease Program, David …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… … In a sun-lit conference room at the National Institutes of Health in Bethesda, Maryland, Cyndi Tifft, M.D., Ph.D., … to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be … form of GM1 gangliosidosis, few patients survive past childhood. … Over the last few decades, scientists have …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… disorder. … Researchers at the National Institutes of Health (NIH) have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder … in the United States. Diagnosis often occurs during childhood, and symptoms may persist into adulthood. …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… new links to genetic conditions. … National Institutes of Health researchers have published an assessment of 13 … broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders. The study was published in the American Journal of …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… does not smell. … Trimethylamine builds up in the body of patients with trimethylaminuria. The trimethylamine gets … An electronic catalog of human genes and genetic disorders, developed by the National Center for Biotechnology … into a compound called trimethylamine N-oxide. … Genetic Disorders …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce … resulting in anemia. … Thalassemia, Inherited Blood Disorders, Hemoglobin, Anemia, Alpha Thalassemia, Beta … to produce hemoglobin, resulting in anemia. … Genetic Disorders …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene. … … skeletal deformities frequently contribute to breathing disorders. Cardiomyopathy (enlarged heart) occurs in almost … Genetics HOME Reference The National Organization for Rare Disorders Scientists Come Step Closer to New Muscular …