Search Results
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.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code  exhibition is currently … The human genome reference sequence is thus an essential resource for investigators involved in human genomics … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases … for rare conditions. "Newly developed methods for genome sequencing now provide us amazingly powerful …
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. … Many DGM programs and projects have working … in Genomic Medicine and Public Health (NSIGHT) The Cancer Genome Atlas (TCGA) … Genomic Medicine XVI: Host Genomics and … Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) RFA-HG-22-021 …
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. …
Professional Development Programs
The Short Course in Genomics offers educators a chance to hear lectures and receive teaching resources from leading researchers, clinicians and staff.
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 … into the electronic medical record (EMR) and provide clinical decision support (CDS) for implementation of appropriate interventions or clinical advice. The sites will work together to develop new …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … Center for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… in January 2021. She is a Project Scientist for the Clinical Genome Resource (ClinGen), a consortium of more than 1,400 individuals from 35 …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … GNE Myopathy is a rare ( … are followed over time to understand the symptoms and clinical course of GNE Myopathy and related disorders. This …
Research Funding
The Division of Genome Sciences supports and accelerates foundational resources, technology development, experimental approaches, in basic genomics and functional genomics research. The Division also oversees a number of transformational initiatives and programs in genomic sciences.
… please visit NHGRI's Research Funding . … The Division of Genome Sciences supports and accelerates foundational … Talented Early Career Researchers in Genomics (R01 Clinical Trial Optional) RFA-HG-25-009 Next Application Due … Advancing Genomic Technology Development for Research and Clinical Application (NOSI) NOT-HG-24-012 Expiration Date: …