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News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and … copies of the SMN2 gene can modify the course of SMA. Genetic testing on a blood or tissue sample is done to …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … and identified in a familial Marfan patient(also known as genetic linkage to the gene). The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 - 93 percent …
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 … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process certain … body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also … of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who specializes in genetics …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… … Factor V Leiden is the name of a specific mutation (genetic alteration) that results in thrombophilia, or an … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … The … is an inherited disorder of blood clotting. … Genetic Disorders …
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.
… Carrier Screening … 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. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the United … germline genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the … science of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and …