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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.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see  … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … and a subset of the patients are at risk of developing cancer, especially cancers of blood cells. With close …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… The Cancer Genome Atlas (TCGA) was a joint effort of the National Cancer Institute (NCI) and the National Human Genome Research … More information on TCGA can be found on NCI’s The Cancer Genome Atlas Program website . The Cancer Genome Atlas … NIH completes in-depth genomic analysis of 33 cancer types  (2018)   The Cancer Genome Atlas publishes …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. … Gaucher Disease Clinical Studies at NIH … Gaucher Disease Clinical Studies at NIH …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, … group have the potential to one day provide the kind of clinical and therapeutic insights that will hopefully change …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… genomics field have slowly started to find applications in clinical care. The field of "genomic medicine" could potentially … into the electronic medical record (EMR) and provide clinical decision support (CDS) for implementation of … Adoption, and Utility of Family History in Diverse Care Settings Principal Investigator:  Geoffrey Ginsburg, …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network,  IGNITE I … Identifier: NCT04191824 ) is a pragmatic clinical trial that aims to determine the effect of returning …
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 medicine, … using a person’s genomic information as part of their clinical care. …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… switch from a different genetic neighborhood, turning on a cancer-growth gene. The research team was led by Bradley E. … in energy production, seemed to have no relevance to cancer. Dr. Bernstein and his colleagues found that when the IDH gene was mutated, particular portions of the cancer cells' DNA became studded with chemical tags called …
Event
Pre-Application Webinar for the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) Funding Opportunity Announcement
… Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed)   NOT-HG-23-003 : Notice of … Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) …
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, …