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News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… are associated with breast and ovarian cancer risk, and conditions such as inherited heart rhythm problems. … diagnosis, researchers discover other treatable health conditions … Genomicists and clinicians are beginning to …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… researchers designed questions about 63 different genetic conditions. These included some well-known conditions, such as sickle cell anemia, cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety of ways …
Educational Resources
Congenital conditions are those present from birth.
… Congenital … Congenital conditions are those present from birth. … Birth Defects, … to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result from an … may be due to a combination of these factors. … Congenital conditions are those present from birth. … Educational …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism. Growth hormone …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… the effectiveness of bone marrow transplantation for these conditions. A major limitation to bone marrow transplantation …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on the world's … instrumental in drug access. … Neglected diseases are conditions that inflict severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most prevalent in …
Educational Resources
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.
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.
… at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some cases, …