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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Deficiency Registry Alpha-1 antitrypsin deficiency - Genetics Home Reference Alpha-1 Antitrypsin Deficiency - …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can … each step. … …  Step 1: Referral for participation in a clinical trial or a treatment  If you are referred to a …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations Skeletal … retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Starting in 2019, the American Journal of Human Genetics (AJHG) has published an annual feature identifying …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable … dissection). … The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the … Foundation NIAMS: Marfan Syndrome NHLBI: Marfan Syndrome Genetics Home Reference: Marfan Syndrome Genetic Testing …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… have abnormal bone growth that causes the following clinical symptoms: short stature with disproportionately … walking. … Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected individuals. In … is 25 percent. Additional Resources for Achondroplasia Genetics Home Reference: Achondroplasia Little People of …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… animals, such as mice, and attempting to duplicate the clinical features of HD. Fetal tissue research: Investigators … light on how HD is passed from generation to generation. Clinical trials of drugs: Drug testing includes classes of … HDBuzz The HD Lighthouse Hereditary Disease Foundation Genetics Home Reference Huntington's Outreach Project for …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… condition. … The diagnosis of Duane syndrome is based on clinical findings. Mutations in the CHN1 gene are associated … Direct sequencing of the CHN1 gene is available as a clinical test, and has to date detected missense mutations in … Orphanet Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… vary greatly among those who have the disorder. The major clinical symptoms include: Enlargement of the liver and … disorders. … The diagnosis of Gaucher disease is based on clinical symptoms and laboratory testing. A diagnosis of … disease is currently being conducted at the Medical Genetics Branch of the National Human Genome Research …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… acidemia. However, most patients with cblA and cblB show clinical and metabolic improvement with supplementation with … visit a genetic counselor or physician who specializes in genetics when they are considering starting a family. … …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… you know has porphyria, we recommend that you contact a genetics clinic to discuss this information with a genetics professional. To find a genetics clinic near you, contact your primary doctor for a …