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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 … years ago, Emily* discovered that she had fewer platelets in her blood than most people. Platelets, sticky disc-shaped … investigator within the Translational and Functional Genomics Branch at the National Human Genome Research …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Discuss these questions with your doctor or clinical trial team. … The Democratizing Education Project … take seven to 10 weeks to be manufactured and processed in a lab.  If the modified stem cells meet certain criteria, … These institutions should provide multi-disciplinary care. You should ask if the following types of care and …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… The Partnership for Community Outreach and Engagement in Genomics brings together community liaisons and health … Analyst, Office of the Director Jean Jenkins, Ph.D., Clinical Advisor, Division of Policy, Communications and …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs … developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology to …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings. A … into newly described disorders. The study was published in the American Journal of Human Genetics . “We demonstrated … of the disorders and the associated genomic variants. “Genomics has the potential to change reactive medicine into …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator … Research Institute (NHGRI), as their new president-elect. In 2019, Dr. Biesecker will become president of ASHG, a … … As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… will review findings on implications for health and care of newborns at the final public session of the National … Human Genome Research Institute’s Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program. … conditions not screened for in newborns? What additional clinical information could be learned from genomic sequencing …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Ganguly, Ph.D. … eMERGE Network will support multiple clinical sites and a coordinating center with $75 million … of Health has announced the provision of $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners, pharmacists, 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.
… collaboration and leadership. An immersive experience in various settings, it allows for a deep dive into project, … portfolio and program management at the forefront of genomics. The keystone of this program is sage mentorship … and collegial experiential learning between fellows across clinical disciplines (PAs, NPs, genetic counselors) . In very …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… outlined by the 2011 NHGRI Strategic Plan  and continued in the 2020 NHGRI Strategic Plan . The working group will … in advising NHGRI on research needed to evaluate and move genomics into routine medical practice. The working group … organizing genomic medicine meetings  that bring together genomics researchers, clinicians, and other experts involved …