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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 … science of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and … Health History, Pharmacogenomics, Undiagnosed Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD. Research has shown that ADHD can have a genetic basis, which means that it is likely that a person … ADHD, Attention Span, Autism, Neurological Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … Attention Deficit …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Finding accurate and reliable information on genetic and rare diseases among the millions of online … articles that interest you. Internet Credibility Help from Genetic Alliance The Access To Credible Genetics (ATCG) … in the creation of new quality educational materials about genetic conditions. www.trustortrash.org For people who want …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… backgrounds, about 1 in 200 has FMF. The availability of genetic testing has helped identify numerous cases among … of them are very common in the patients of Middle Eastern ancestry. … In making a diagnosis of Familial Mediterranean … in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… … Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … resources around areas of core knowledge including: Basic genetic concepts Ethical, legal and social implications … G2C2 also provides online educational materials for genetic counselors, nurses and physician assistants. … A …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… however, it occurs most often in whites of European ancestry. Alpha-1 antitrypsin (AAT) is a protein that is made … may be expressed, and both versions contribute to the genetic trait. The M gene is the most common allele of the … - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy Alliance Alpha …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… G2C2 developers have assembled educational materials for genetic counselors, nurses, pharmacists and physicians …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) on a blood sample for changes in the … muscular dystrophy without performing a muscle biopsy. Genetic testing is constantly changing, but the methods …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… However, despite the relatively high prevalence of these genetic mutations in Ashkenazi Jews, only seven percent of … whether an individual in such a high-risk family has a genetic mutation in the BRCA1 or BRCA2 genes. When someone … individuals may develop breast cancer whether or not a genetic mutation is present. … Given the limitations of …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… findings. When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a … of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra … An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another …