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For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the … of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and the … Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … FAQs about genetic disorders, the impact of …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response … activity of immune cells in children with mitochondrial disorders and found that B cells, which produce antibodies to … in more than 350 genes have been linked to mitochondrial disorders with varied symptoms depending on which cells are …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… or to affect anticoagulant (anti-clotting) therapy. Skin Disorders Certain skin conditions have also been observed in … which the skin tissue dies). Stroke and Other Neurological Disorders Stroke is associated with APS, as are some other … stream, causing embolic events. Lupus and Other Autoimmune Disorders APS is classified within the category of autoimmune …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. … … People with Methylmalonic Acidemia (MMA) and cobalamin disorders may have difficulty with growth and development, …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism represents a broad group of developmental disorders characterized by impaired social interactions, … … Autism - or more precisely the autism spectrum disorders (ASDs) - represent a broad group of developmental … Autism Speaks Autism Research Institute Genetic and Rare Disease Information Center … What is autism? … What are …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple … complex inherited diseases. Understand how best to design rare variant studies for common disease. Develop resources, … large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants … to individual investigators and coordination with other rare disease programs worldwide. The CMG are co-funded by the …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… the double lobes of the cerebral hemispheres. … Genetic Disorders …