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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- 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
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… using a person’s genomic information as part of their clinical care. … Genomic medicine is a medical discipline … using a person’s genomic information as part of their clinical care. Other similar terms include individualized … using a person’s genomic information as part of their clinical care. … Talking Glossary …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has … ClinGen is an NHGRI-funded resource that defines the clinical relevance or validity of genes in various genetic … ClinGen is providing much needed clarity for the clinical genomics community regarding which gene-disease pairs have …
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.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases … Institute. "Along with robust clinical evaluations, genomics will play a central role in the UDN's mission." Dr. …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of … left), a medical geneticist trained in the Stanford Clinical Genetics Program, and Hwaida Hannoush, M.D. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… the institute's efforts to advance the application of genomics to medical science and clinical care. … Many DGM programs and projects have working … awareness of research efforts in relevant program areas. … Clinical Sequencing Evidence-Generating Research (CSER) …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… Findings from the genomics field have slowly started to find applications in clinical care. The field of "genomic medicine" could … into the electronic medical record (EMR) and provide clinical decision support (CDS) for implementation of …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of … Society of Human Genetics for 2019. … The Precision Genomics Section research program focuses on understanding …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … GNE Myopathy is a rare ( … are followed over time to understand the symptoms and clinical course of GNE Myopathy and related disorders. This …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders … Diseases Program, Dr. Tifft coordinates the selection and clinical evaluation of children whose diagnoses have long …