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Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to … and develop educational resources. The opinions expressed in this resource do not reflect the view of all ISCC-PEG … update to the Essentials book highlights the importance of genomics in nursing: Nurses must apply foundational knowledge …
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 … studying many aspects of organic acidemias. In 2021, NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. …
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. Mitochondrial … with the cell’s ability to produce energy. Infection in individuals with mitochondrial disease can lead to … the relationship between infection and clinical decline in patients with mitochondrial disease. Mitochondrial …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has … that defines the clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and research. Nine other genes have …
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 that involve patients with prolonged undiagnosed … Institute. "Along with robust clinical evaluations, genomics will play a central role in the UDN's mission." Dr. …
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 opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed … infrastructure, systems, and technologies in genetics and genomics. The summit, which aims to help the international …
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. … of daily living. GNE Myopathy results from variants in a gene called GNE , which is responsible for a step in the …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… have created a promising new method to accurately and, in some cases, more comprehensively analyze and interpret DNA … mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … help guide individualized patient treatment or enrollment in clinical trials that test a therapy aimed at a particular …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… be a downside, of course. Healthcare providers who discuss genomics and behavioral risk factors with overweight mothers … may be able to reduce that guilt by being more careful in the future about their children's diet, Dr. Persky's team … that we don't know," Dr. Persky said. "Any of the clinical discussions that are happening these days are …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial … with the cell’s ability to produce energy. Infection in individuals with mitochondrial disease can lead to … Disease NIH Clinical Center  Acute Infection in Mitochondrial Disease  At-Home Participation  Use of …