Search Results
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… The need for increased research to develop tools to translate genomic research findings into clinical applications has been … to utilize advances in technologies to translate genomic research findings into tools for potential future clinical … precision of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … data can cause false results, where a person could be at high risk for a disease but not receive a high-risk score …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… Comparative Genomics Branch of the National Human Genome Research Institute, at NIH. … a highly motivated postdoctoral candidate committed to research into the molecular underpinnings of uterine cancer. … clinically aggressive forms of endometrial cancer. Our research entails the functional annotation of somatic …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… Comparative Genomics Branch of the National Human Genome Research Institute, at NIH. … a highly motivated postdoctoral candidate committed to research into the molecular underpinnings of uterine cancer. … clinically aggressive forms of endometrial cancer. Our research entails the functional annotation of somatic …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… Katie Lewis is a genetic counselor in the Genomic Services Research Program (GSRP). She got her degree in genetic counseling from the Johns Hopkins University/National … Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP). …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction … Dr. Daniel Kastner, M.D., Ph.D. News Release : Genetic mystery of Behcet's disease unfolds along the ancient …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… affected family members, giving a stronger indication of genetic disease; however, we will also consider individual … patients.  I have a patient with an interesting genetic variant. Whom should I contact? Genetic discoveries … Ivona Aksentijevich if you would like to further discuss research opportunities. …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… The research community recently lost a key contributor to the … meeting of the National Advisory Council for Human Genome Research will take place on September 16. You can join us via … on September 26-27. This event aims to gather input about research opportunities for integrating genomics into routine …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … nervous system in babies with Tay-Sachs. Another avenue of research is gene therapy in which scientists transfer a …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
…  - a group that provides expert external oversight for all research and training ongoing in the NHGRI Division of Intramural Research. Clinical research is overseen by the Clinical … Genome Project to the bedside of those afflicted with a genetic disease. … for detection, prevention and treatment of heritable and genetic disorders. …