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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
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… the patient to collect information about family history and symptoms, House and his team gather to generate a list of … How to solve this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the … write computer code or work with vast amounts of data, the clinical value of using genomic data can be dampened. "We …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… professionals now have access to a variety of educational and clinical genomics resources thanks to a new partnership … developed with input from an editorial board of nurses, genetic counselors, physicians, physician assistants and …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional … healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic Counseling, … a genetic condition could affect an individual or family and/or interpret genetic tests designed to help estimate the …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic disorder. The body creates an enzyme called … in different tissues, leading to hematological, skeletal, and neurological manifestations seen in patients with Gaucher … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… was established in 2013 ( RFA-HG-12-006 , RFA-HG-12-007  and RFA-HG-13-004 ) to develop methods for incorporating genomic information into clinical care and explore the methods for effective … the effect of returning apolipoprotein L1 (APOL1) genetic risk information to hypertensive African ancestry …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic …
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.
… Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic … are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… role. To commemorate my next phase as NHGRI Director – and to avoid any of the above high-risk activities – I joined … institute and the field of genomics. … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … approaches for the clinical care of patients with genetic disorders. In this role, Ben will provide new …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… The Laboratory Genetics and Genomics Fellowship Training Program is a two-year … to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of … National Hospital in Washington, DC. Fellows also gain clinical and genetic counseling exposure by seeing patients …