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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Patients and Families
Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research … mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted with human subjects, …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on … clinical research with the underlying theme that genetics is both a diagnostic and therapeutic specialty. …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… disorders or may be at risk for inherited conditions. … Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic … and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact … use. … Genomic Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In …
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… sessions” to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine …
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.
… of the entire human genome, has greatly advanced genetics research. The improved quality of genetic data has …
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).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that … the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of genes and …