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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.
… As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker … Proteus syndrome. He initiated ClinSeq® , a large-scale medical sequencing project aimed at understanding the … Biesecker was also a co-chair of the American College of Medical Genetics and Genomics Subcommittee on Incidental …
Staff
Sangeetha Raghavan is a Senior Licensing and Patenting Manager in NHGRI's Technology Transfer Office.
… of biologics, diagnostics, drug delivery, therapeutics, medical devices, plant varieties, small molecules and … role of Senior Licensing Associate at Children’s National Medical Center’s (Washington, D.C.) Innovation Ventures in … efforts led to licensing discussions with top biotech and medical device companies both at University of Maryland and …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… M.D., clinical investigator and staff clinician in NHGRI's Medical Biochemical Genetics Residency Program . "Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to potentially … Advancing Medical Knowledge …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… this evidence quickly and directly into improvements in medical care. We are excited to bring this network together … systems present an excellent opportunity to generate new medical understandings from genomic data, which is critical … systems present an excellent opportunity to generate new medical understandings from genomic data, which is critical …
Research Training
An opportunity for recent college graduates to spend a year engaged in biomedical research in NHGRI laboratories.
… to initiate the application process for graduate or medical school. The duration of the program is normally one … to individuals who have been accepted into graduate or medical degree programs and have written permission from … Training Programs, Biomedical Research, Graduate School, Medical School, Research Laboratories …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
…  The American College of Medical Genetics and Genomics (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are a valuable tool for facilitating … ACMG issues statement regarding genomic data and electronic health records …
Healthcare Provider Genomics Education Resource
Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is an outcomes-based approach that uses competencies to organize and structure curricula and continuing education.
… to successfully practice as a genetic counselor. Medical School Education 2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics October 2022 The …
Research Funding
The Genomics-enabled Learning Health System (gLHS) Network aims to identify and advance approaches for integrating genomic information into existing learning health systems.
… Ph.D. Wesley Self, M.D., M.P.H. Vanderbilt University Medical Center Nashville, TN Coordination for Demonstrating … M.D. Alexander Bick, M.D., Ph.D. Vanderbilt University Medical Center Nashville, TN University of Miami Hospital … care. LHS have gained traction due to advancements in electronic health records (EHRs) and health IT, which allow …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… Integrating genomics into medical settings is a chicken-or-the-egg proposition. … treat disease, but genomics must first be implemented into medical settings to gather that evidence. … such as genomic testing and its integration into electronic health records, fragmented health care delivery …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… signatures of genetic epilepsies precede diagnosis in electronic medical records  Read the full review: Manolio TA, Narula J, Rupert … model for universal non-invasive prenatal screening Electronic health records reliably predict who should receive a diagnostic …