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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and … pathological and biochemical spectrum to uncover the basic genetic defect." Since 2008, the UDP has explored this …
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 … from parent to child is linked to one or more genes and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… the implications of genomics for their health care and evaluate the relevant public policy issues,according to … citizenry, the American Society of HumanGenetics (ASHG) and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship. Every year, one genetics …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to … distant ancestors lived. … Understand the terms and concepts used in genetic research … Talking Glossary …
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 … 5. … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is … syndrome vary among individuals. The variability of the clinical symptoms and developmental delays may be related to …
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 action and prevent disease and new ways to treat disease through personalized medicine. …
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 … detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … Newborn screening is a set of …
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.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most … led by the University of Oxford, the Broad Institute, and the University of Michigan, reveal the complexity of the … primary federal agency conducting and supporting basic, clinical and translational medical research, and is …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at the Mayo … at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship … at NHGRI, where she sees patients with a variety of genetic and metabolic disorders, providing care in both …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for disease in patients who are too young to … consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium …