Search Results
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… history study at the National Institutes of Health (NIH) that  aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … we hope to develop treatments in the future. At the NIH, we are interested in research. Although we do provide …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, … group have the potential to one day provide the kind of clinical and therapeutic insights that will hopefully change …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … the family communication process following RoR. Determine participant satisfaction with various aspects of the return …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… NHGRI held its annual Symposium late last month on the NIH campus. This year we were fortunate to have two fabulous … institute and the field of genomics. … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … Real time chromatin dynamics and function (U01 clinical trial not allowed) 4DN centers for data integration, modeling …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs … is stored in ClinVar, which is funded and maintained by NIH's National Center for Biotechnology Information, part of …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… The ACMG/NIH Genomic Program Management Fellowship has been a deeply … and collegial experiential learning between fellows across clinical disciplines (PAs, NPs, genetic counselors) . In very … very cool things!  Dee Burkardt, D.O.  2021-2022 ACMG-NIH Fellow  Current position: Staff Clinician, Department of …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … genomic information would travel with the patient and the clinical use of it achieved through bioinformatics systems, … rapid utilization of genomic data. For example, advanced clinical decision support systems (CDSS) could leverage …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and Metabolism in 1996. In 2009, she returned to the NIH to focus her attention on children with rare and … launched the initial first-in-human gene therapy trial for patients with Type I and Type II GM1 …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… She has applied her SAS skills to genetic epidemiology, clinical trials, and biotechnology. She has created a unique … H, Adeyemo A, Rotimi CN. Pharmacogenomics, ancestry and clinical decision making for global populations. … on Genomics and Global Health, genetic epidemiology, clinical trials, biotechnology … Jie Zhou, Center for …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… the ClinGen resource. … The National Institutes of Health (NIH) will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and … or conditions that are considered high priority to NIH. The ClinGen consortium aimed to create the tool that …