Search Results
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… As public interest and expanded research in human genome editing grows, many questions remain about ethical, … are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes … informed decisions about participating in genome-editing clinical trials. Gene-editing treatments, which appear to …
News Release
Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources.
… part of a new website launched by the National Human Genome Research Institute. … Developed with input from clinical educators and administrators, The Method for … and understand how to prepare their workforce for emerging clinical applications. "The MINC toolkit is a starting point …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Researchers at the National Human Genome Research Institute have developed a number of software … Complementary Pairs Stability Selection for Genome-Wide Association Studies (ComPaSS-GWAS) An ad-hoc … predicting microRNA target site variants (miR-TSVs) from clinical genomic data sets. Tiled Regression Analysis A …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… using a person’s genomic information as part of their clinical care. … using a person’s genomic information as part of their clinical care. Other similar terms include individualized … using a person’s genomic information as part of their clinical care. …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, funded primarily by the National Human Genome Research Institute (NHGRI), have published a 22-item … This framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group  and the …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and … NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. … Dr. Shchelochkov’s clinical research has focused on understanding the natural …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… The Genome: Unlocking Life's Code  exhibition is currently …  Research studies that generate genome-sequence data rely on a reference sequence for making … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
Staff
Rosann Wise is a program analyst in the Education and Community Involvement Branch at the National Human Genome Research Institute.
​
… Rosann Wise is a program analyst at the National Human Genome Research Institute (NHGRI) in the Education and … part of the ECIB team that supports the NHGRI/Smithsonian Genome: Unlocking Life's Code traveling exhibition, … and Community Involvement Branch at the National Human Genome Research Institute. ​ …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… advance the application of genomics to medical science and clinical care. … Clinical Sequencing Evidence-Generating Research (CSER) … in Genomic Medicine and Public Health (NSIGHT) The Cancer Genome Atlas (TCGA) … 1, 2022, Virtual Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda February 9-10, …