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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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.
… individual in a family. … Family Health History, Genetic Disorders, Ancestry, Healthcare, Genealogy, Genes … A …
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
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 … is a rare, congenital eye movement disorder. … Genetic Disorders …
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
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. … … People with Methylmalonic Acidemia (MMA)  and cobalamin disorders may have difficulty with growth and development, …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a … common form of disproportionate short stature. … 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 …
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.