Search Results
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… The Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural … Secondary Genomics Findings Service … ​The Secondary Genomics Finding Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural …
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.
… Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI … Dr. Neil Hanchard joins NHGRI as a clinical investigator …
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, … and improved to integrating sequence information into the clinical workflow. The ethical, legal, and psychosocial …
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 … 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 …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… What are the opportunities and challenges for ML in genomics research? Moderator: Shannon McWeeney, Ph.D. , … 11:10 a.m. - Eric Topol, M.D. , Scripps Research Genomics in the Machine Learning Space   11:40 a.m. - … Challenges and Opportunities for Machine Learning in Genomics  12:10 p.m. - Q&A Session 12:40 p.m. - Break …
Event
Pre-Application Webinar for the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) Funding Opportunity Announcement
… Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed)  NOT-HG-23-003 : Notice of … Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership between the … societies. The resources are available on the Genetics/Genomics Competency Center (G2C2) website, a free, online … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Clinical applications of genomics in neurology and psychiatry will be the focus of an … School of Medicine. The first lecture, Genetics and Genomics of Craniosynostosis Syndromes , is set for Fri., … the importance of translating genomic science into clinical care. "Physicians are inspired by genomics but need …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. … Gaucher Disease Clinical Studies at NIH … Gaucher Disease Clinical Studies at NIH …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … and underlying mechanisms, which will lead to better clinical management and hopefully develop new therapies. …