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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted … the gene lies on that chromosome. … Among the main goals of the Human Genome Project (HGP) was to develop new, better … Library of Medicine's National Center for Biotechnology Information (NCBI) [ncbi.nlm.nih.gov], as well as the Genome …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… as well as in the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… offers new subspecialty training in a combined program of maternal-fetal medicine and med genetics in collaboration … a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … Pharmacogenetics takes into account a person's genetic information regarding specific drug receptors and how drugs …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … pressure as an adult. Learning about the health history of your family and sharing this information with your health care provider can help you learn …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… Vence L. Bonham, Jr. is acting deputy director of the National Human Genome Research Institute and a member … to measure health professionals' knowledge of human genetic variation and their beliefs and attitudes about its … to health differences. CMAJ , 179(7):629-630. 2008. [ PubMed ] Bonham VL, Knerr S, Social and Ethical …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… Genetics … Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… Ph.D. … Media Availability A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most … and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . …
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.
… 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. … Cri du …