Search Results
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 …
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. Nephi Walton is a clinical geneticist and medical informaticist. He served as a program director for the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource from 2024-2025.
… Nephi A. Walton, M.D., M.S., FACMG … Dr. Nephi Walton is a clinical geneticist and medical informaticist. He served as a … the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource from 2024-2025. With over 20 years of … to care for patients with complex rare disorders in his clinical practice. … Biography … Related Programs … Nephi A. …
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, …
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 …