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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined … journal Prenatal Diagnosis . "Because there are too few genetic counselors, OB/GYNs will be called on to communicate fetal genetic information to parents," said Benjamin Berkman, J.D., …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in … the changes in molecular function that underlie various genetic metabolic disorders, with the hope of developing … syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 people …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… may be expressed, and both versions contribute to the genetic trait. The M gene is the most common allele of the … PiMZ' or 'type PiMS'), that person is a carrier of the disorder. While such a person may not have normal levels of … - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy Alliance Alpha …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… his mother Rebecca, has attention-deficit/hyperactivity disorder (ADHD). Rebecca's life must be highly organized for … to help these kids." The NIH defines ADHD as "a brain disorder marked by an ongoing pattern of inattention and/or … the heritability of attention-deficit hyperactivity disorder or ADHD. ​ … Attention deficit hyperactivity …
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) … their site or obtain a printed report for a specific disorder by ordering it through NORD's Web site, by calling, …
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
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 … in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct … … Familial Mediterranean Fever, FMF, Inherited Disease, Genetic Disease, Inflammation, Ankle Rash, Autosomal …