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News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered an ethical framework … results, and, especially, disclosing findings. The study was posted online on Sept. 14, 2015, and will be … clinical medicine, is funded by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian Genomics … In doing so, the CMGs will define the state-of-the-art study designs and methods to find the variants and genes … The CMG are co-funded by the National Human Genome Research Institute, the National Heart, Lung, and Blood …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… Categories for the notable accomplishments of research are defined (below) as research that uses genomics to generate or study.  Category Information Content Genomic Medicine … The categories for the notable accomplishments of research are defined as research that uses genomics to …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
… Researchers at NIH's National Human Genome Research Institute (NHGRI) and their colleagues* are calling for health disparities research that focuses on the microbiome. Health disparities … and homelands despite decades of health disparities research . The role of the microbiome on ethnic and racial …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… and, armed with training from the National Human Genome Research Institute's (NHGRI) Physician-Scientist Development … newest faculty member to join its Division of Intramural Research. … Program, which began in 2003, helps physicians develop research programs dedicated to the disorders they specialize …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… uses state-of-the-art genetic and genomic technologies to study the genomes of humans and other organisms and disease … The goal of the branch is to demonstrate that research findings and opportunities derived from genetic and … the latest genomic and genetic technologies to the study of human disease. Our investigators develop and quickly …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the … for decline associated with infection. The goal of this study is to compare biomarkers like genetic and immune … please contact us at ministudy@nih.gov or Shannon Kruk, Research Nurse and study coordinator, at 301-451-9145. …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… The Natural History Study of Patients with GNE Myopathy collects genetic and … This study collects genetic and medical information from people … and urine sampling Heart and lung function tests Imaging study of the leg muscles Participants may return for … view our Frequently Asked Questions  about the study. …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… (ARDI): Advancing Genomic Medicine through rare diseases research in Africa Gabor T. Marth Martin Tristani-Firouzi … Historically, NHGRI has largely funded genomic medicine research through multi-disciplinary consortia. The AGMR … NHGRI’s genomic medicine portfolio to include focused research projects that propose nimble, flexible approaches to …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… findings February 6, 2017, in Pigment Cell and Melanoma Research . "These newly identified genes and genetic pathways … lead author and staff scientist in the Genetic Disease Research Branch at the National Human Genome Research … the role they have in tumor progression. Read the Study Stacie K. Loftus, Laura L. Baxter, Julia C. Cronin, …