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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
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 …
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 …
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 …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… … ADPKD can be diagnosed using ultrasound, CT scan or MRI studies of the kidneys. The diagnostic criteria for … failure, they need to have dialysis or a renal transplant. Studies have shown that individuals with ADPKD do better on …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… who have Noonan syndrome have normal chromosome studies. Four genes - PTPN11, SOS1, RADF1 and KRAS - are the …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… on Trimethylaminuria Currently, NHGRI is not conducting studies on Trimeththylaminuria. Current NHGRI Clinical Studies Search ClinicalTrials.gov [clinicaltrials.gov] …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… testing includes blood testing of cholesterol levels, studies of heart function, and genetic testing. Blood testing … mg/dl in children) and LDL levels usually above 200 mg/dl. Studies of heart function, such as a stress test, may be … Medline Plus What is Cholesterol? American Heart Association - Cholesterol National Organization for Rare …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Registry: Myotonic Dystrophy Type 2 Muscular Dystrophy Association: Myotonic Dystrophy (DM) GARD: Myotonic Dystrophy …