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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- 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
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and social-behavioral research can provide insights … consent for studies using genomic data from cell lines or clinical specimens that were created or collected after the … … Human Subjects Research, Genetics Research, Clinical Trials, Data Privacy, Human Rights, Federal Laws Protecting …
Policy Issues
Revisions to the Common Rule modernize, simplify, and enhance oversight for human subjects research in the United States.
… biospecimens will undergo WGS. Lastly, consent forms for clinical trials will be subject to a one-time posting requirement to … or taken out of the rule entirely. Coverage of All Clinical Trials Only federally-funded clinical trials are …
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 … suggest that these genes not be routinely tested in clinical settings when evaluating patients and families with …
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.
… at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in Clinical Biochemical Genetics. Dr. Merideth is board certified in Obstetrics/Gynecology, Clinical Genetics and Clinical Biochemical Genetics. She also …
Research at NHGRI
In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and treat a diverse group of clinical conditions.
… research studies. Staff Clinicians are expected to provide clinical leadership and the highest level of clinical care. In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better …
Staff
Dr. Nephi Walton is a clinical geneticist, medical informaticist, and Program Director for the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource.
… Nephi A. Walton, M.D., M.S., FACMG … Dr. Nephi Walton is a clinical geneticist, medical informaticist, and Program … the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource. With over 20 years of experience in … to care for patients with complex rare disorders in his clinical practice. … Biography … Related Programs … Nephi A. …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… and management plans need to be proven via randomized clinical trials or are interventions with other levels of evidence allowed? Randomized clinical trial evidence is not required; other resources …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the clinical and genetic features of people who may have the rare …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Wendy Introne, M.D. … Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics … Medical Center in Washington, D.C.; fellowship training in clinical genetics and clinical biochemical genetics from the … of the disorder, and layed the foundation for clinical trials of an investigational therapeutic medication, …