Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… sometimes want to know if they can be evaluated by a rare disease specialist. Unfortunately, because there usually are … for certain characteristics or symptoms. … Undiagnosed Disease, Genetic Condition, Rare Disease, Healthcare, Clinical Trial, Genetic Counselor … An …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… ​ … Family Health History, Pharmacogenomics, Undiagnosed Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … FAQs about genetic disorders, the impact of …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… mutations in FMO3 can influence the symptoms of the disease, affecting time of onset and how strong the odor is. … URL: www.geneclinics.org . Use 'trimethylaminuria' as your disease search term and click on either the 'Research' or … science puts its mark on a rare but ancient body-odor disease An article about trimethylaminuria, written by …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Alpha-1 antitrypsin deficiency (AATD) can present as lung disease in adults and can be associated with liver disease in a small portion of affected children. In affected … However, carriers with the MZ alleles have an increased risk for lung disease, particularly if they smoke. A person …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… involves a person with a gene variant that is causing disease, but the person is the only one in the world known to … cases that are memorable, those that discovered a new disease or saved a life. He described a 16-year-old boy who …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… 5. … Cri Du Chat Syndrome,genetic Condition, Rare Disease, Chromosome 5 … Cri du chat syndrome is a rare …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… breast cancer in her lifetime. … Breast cancer is a common disease. Each year, approximately 200,000 women in the United … form of either BRCA1 or BRCA2, they have an increased risk of developing breast or ovarian cancer at some point in … strong family history of breast cancer: occurrences of the disease in at least three first or second-degree relatives …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Of Genomics, Pharmacogenomics, Oncology Sequencing, Disease-based Findings … The NHGRI Genomic Medicine Working …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… or no apparent trauma. OI is also called "brittle bone disease." OI varies in severity from person to person, … Imperfecta, OI, Genetic Disorder, Brittle Bone Disease, Dentinogenesis Imperfecta, Fractures, Joint Laxity, …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have … Breast Cancer, Extragonadal Germ Cell Tumor, Lung Disease, Varicose Veins, Osteoporosis, Lupus, Rheumatoid …