Search Results
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
Educational Resources
A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family.
… Family Health History, Genetic Disorders, Ancestry, Healthcare, Genealogy, Genes …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… findings. Mutations in the CHN1 gene are associated with familial isolated Duane syndrome. Direct sequencing of the … Genetic Disorders …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Genetic Disorders …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Genetic Disorders …
Event
November is Family Health History Awareness Month! To celebrate, the National Human Genome Research Institute will host several engagement events over social media on Wednesday, November 17.
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … Genetic Disorders …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, … Tyrosinemia, phenylketonuria, homocysteinuria Carbohydrate disorders Galactosemia, fructosemia Mitochondrial disorders …