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News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… is involved in the biological steps that help break down food, fats, cholesterol and amino acids. MMUT helps break down food into a chemical byproduct called propionate, which … chose to assess how well the MMUT protein helped break down propionate in both patients who did and not did not …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… researchers identify an altered gene that causes Pendred Syndrome, a inherited form of deafness. 1998 March 1998: Vice … of human chromosome 21, already known to be involved with Down syndrome, Alzheimer's disease, Usher syndrome and Lou … discover a new autoinflammatory disease called CRIA syndrome . November 12, 2019: NHGRI appoints Dr. Benjamin …
Educational Resources
A lysosome is a membrane-bound cell organelle that contains digestive enzymes. Lysosomes are involved with various cell processes.
… are involved with various cell processes. They break down excess or worn-out cell parts. They may be used to …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… A person's genetic makeup affects how their body breaks down certain medicines. Genetic testing can examine certain … enzymes in a person to find out how their body breaks down and removes medicines from the body. Because these liver … less active in some people, they are less able to break down and get rid of some medicines. This can lead to serious …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present at birth … Additional Resources for Poland Anomaly Medscape: Poland Syndrome MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… first Natural History Study in Hutchinson-Gilford Progeria Syndrome (HGPS), developing outcome parameters which were … expanding the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin … disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz syndrome. Dr. Merideth …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… are determined by a single gene, ADHD is not easily pinned down. Many common but subtle differences in our DNA come … helps a person remember a phone number while writing it down. Or, it helps them recall the price of grocery items … today's treatments and medication, there is hope. "Far down the line, understanding how genetic variation is tied to …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… elucidated the molecular defect underlying Saul-Wilson syndrome, a rare skeletal dysplasia, and the genetic basis of Catel-Manzke-like syndrome, another rare constitutional disorder of bone … projects focus on three major areas: 1) Saul-Wilson syndrome; 2) disorders of FGF23 metabolism; and 3) disorders …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… organelles (LROs), including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified … Kaiser-Kupfer M.I., White J.G., Gahl W.A. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican …