Search Results
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… clinical and genetic features of people who may have the rare condition. She enrolled in the program and sent her DNA … identified to have RUNX1 variants. Although considered a rare disorder, many researchers and clinicians believe that … widespread access to genomic medicine vital for studying a rare, underdiagnosed blood disorder … Scientists are …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to … inherit two mutant copies of GBA1 have Gaucher disease, a rare lipid storage disorder characterized by enlargement of … Blood Institute, the National Institute of Neurological Disorders and Stroke, the University of Florida, Northwestern …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira … a good fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is … is a pattern of inheritance characteristic of some genetic disorders. … Talking Glossary …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers at the … compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand … that affect the skin. Genetic disorders are often rare and notoriously difficult to diagnose. On average, it …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a … National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … to genetic conditions. The National Organization for Rare Disorders (NORD) www.rarediseases.org NORD is a federation of …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of … - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a … material on the the p arm of chromosome 5. … Genetic Disorders …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by multiple, painful … Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by multiple, painful … disease? … About Dercum Disease … Dercum disease is a rare condition that is characterized by multiple, painful … in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store … organ damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 … cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … Only about one in … and to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be …