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News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… I wanted to know how genes worked. It kick-started me and drove my education and career," he said. Dr. Blakesley … sequencing machine for medical diagnostics. "That hooked me. At the time, Fred Sanger and Wally Gilbert (British and … frustrated, Dr. Blakesley contacted Dr. Green to ask if he knew of any career opportunities. NISC, the nascent …
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.
… and reduce illness and disability’. … Do I have to pay anything for participating in the study? No, as an enrolled … RUNX1 medical team and NIH subspecialists as needed. We ask to be kept up to date with any new medical information … this time. What information will the NIH clinic share with me about my health and the results of the overall study? The …
News Release
In August 2022, NHGRI History of Genomics Program celebrates 10 years of chronicling how the field of genomics began and evolved, with a particular emphasis on the role of NHGRI.
… says Green. “Most other NIH institutes just haven’t done anything like this. But that’s what we do at NHGRI. We do …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… “Follow your passion,” he says. “In science, as in anything else, you need to care about your work and be …
News Release
Principal investigator-mentors guide new scientists to their next chapter.
… NHGRI “By far, I think the most impactful experience for me during my post-bac was authoring my first publication,” … at NHGRI, for the level of independence he’s given me and for letting me write and publish the work I’ve … successful no matter your profession. Be proactive and ask questions. Find a good mentor!” Ms. Benoit advised …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… or chemotherapy. "It's miraculous that Vincent called me that day. If he had never thought of me, I would have never known," Bryant said. "I'd probably be … Even before receiving a secondary finding, clinicians must ask the person whether they are willing to learn about a …
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
… history to improve disease risk assessment May 1, 2019 Reddit AMA: The importance of knowing your family health …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… efforts. My deep appreciation to those who hosted me, attended my talks, and spent time describing their … about the new program will come in 2020. Please join me in welcoming Josh to NHGRI and in congratulating Les for …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… to re-contact example] Researchers might want to ask you to participate in additional studies. In some cases, … use the samples and data you have already collected from me [Yes] or [No] You may collect new samples or data from me, … screening. Results about my genetic risks that I cannot do anything about but that might affect my future health. …
The Genomics Landscape
In the March 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights a strategic planning effort to establish a 2020 vision for genomics.
… Strategic Plan for Data Science Rare Disease Day at NIH Reddit Talk Sparks Questions on the Ethical, Legal, and … NIH Researchers Highlight Virtual Reality Research on Reddit Unlocking Life's Code : February 2018 Newsletter … …