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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… of inheriting the gene mutation. … In 1995 and 1996, studies of DNA samples revealed that Ashkenazi (Eastern …
MINC
Evaluation of whether or not all your hard work is making a difference is important.
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.
… suggested that the prognosis was uniformly poor. Recent studies show a broader range of outcomes than previously …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin … kinase concentration and muscle biopsy with dystrophin studies confirms the diagnosis. Creatine kinase is an enzyme … to New Muscular Dystrophy Treatment The Muscular Dystrophy Association Muscular Dystrophy Family Foundation Parent …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disease, and, armed with training from the National Human Genome Research Institute's (NHGRI) Physician-Scientist … to use the tools that unlock information in the human genome for real world applications, such as finding a cure …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Deficiency - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI), part of NIH. People … evaluations, including brain and muscle imaging studies and muscle biopsies. The researchers collaborated … Weakness Disorders ID:NCT02055248. The National Human Genome Research Institute (NHGRI) is one of the 27 institutes …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… Resources for WAGR Syndrome International WAGR Syndrome Association American Kidney Fund, Inc. American Cancer …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… have identified a number of genes associated with autism. Studies of people with autism have found irregularities in several regions of the brain. Other studies suggest that people with autism have abnormal levels …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Inheritance in Man  eMedicine Journal Charcot-Marie-Tooth Association Heredity Neuropathy Foundation MedlinePlus NINDS …