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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- 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) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… research in the field of genetic counseling and provides clinical rotations for students to learn directly about … and the role of the professional genetic counselor. … Clinical rotations begin in the second quarter of the program … adult, pediatric, prenatal and specialty genetic clinical training sites in the Baltimore-Washington area. In …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each … and/or homocysteine levels in the blood and/or urine, and clinical history. Dr. Venditti will determine patient …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for … specimens. Assuming an active role in the development, implementation, and quality assurance of individual clinical …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly … their phenotypic and functional effects and other clinical information. ClinGen investigators are developing …
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 regulatory medicine and clinical trials in Mendelian disorders. The series will …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human … Solomon, M.D., to lead the institute’s intramural Clinical Research Program , which provides oversight and …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the … information on the rationale behind the development and implementation of the SGFS NIH Intramural Policy for … annotation and return of actionable secondary findings in clinical sequencing; contains the "ACMG 59 gene list"  …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … CLINSEQ®? Possible benefits to you may include: Free clinical testing, such as testing for cholesterol and … 6 to 7 tablespoons of blood taken. This blood is used for clinical and genetic testing.  EKG, Echocardiogram and CT …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Medical Genetics Medical Oncology Neuro-Oncology Neurology/Clinical Neuroscience … Neurosurgery Otolaryngology—Head and … Hospitalist Medicine Pediatric Oncology Psychiatry/Clinical Neuroscience Psychiatry/Consultation-Liaison …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research … ways to diagnose, treat and prevent illness. … NHGRI clinical research and field work also spans a wide spectrum … diabetes. Analyzing data gathered in family studies, NHGRI clinical researchers have played key roles in a number of …