Search Results
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. … 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.
… Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder … reported their findings in the New England Journal of Medicine . Nearly 125 million people in the U.S. live with … Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 …
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., prepares for a tea party. She lays out plates of cookies, chips and nuts. At the head of the table are tall silver teapots, gold-rimmed teacups and …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… 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 … successfully traces genomic variants back to genetic disorders …
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.
… 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. …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylamine builds up in the body of patients with trimethylaminuria. The trimethylamine gets … People with trimethylaminuria have an impaired version of the enzyme flavin-containing monooxygenase 3 (FMO3). This … N-oxide. FMO3 is produced by the liver and is a member of a family of similar enzymes responsible for metabolizing …
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. … DMD is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is … in people from families without a known family history of the condition. Individuals who have DMD have progressive …
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 … Thalassemia is actually a group of inherited diseases of the blood that affect a person's ability to produce … Prenatal testing can be done around the 11th week of pregnancy using chorionic villi sampling (CVS). This …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators … embryology, inborn errors of metabolism, and neurogenetic disorders. … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …