Search Results
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 … In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better …
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 subject to … Human Subjects Research, Genetics Research, Clinical Trials, Data Privacy, Human Rights, Federal Laws …
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.
… A list of scientific and clinical research investigators at the National Human Genome … A list of scientific and clinical research investigators at NHGRI. …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… 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 NIH. Dr. Introne then … The natural history study of alkaptonuria detailed the clinical manifestations and rates of progression of the …
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.
… 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. …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… with biotechnology companies and has several active clinical protocols. … Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI. … Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI. …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… advance the application of genomics to medical science and clinical care. … Clinical Sequencing Evidence-Generating Research (CSER) … and Environment Initiative (GEI) Genomics and Randomized Trials Network (GARNET) Gene Environment Association Studies … 1, 2022, Virtual Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda February 9-10, …