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… Using ENCODE Data to Interpret Disease-associated Genetic Variation.pdf …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… association, and function in human health and disease. If you are in the Boston area, we welcome you to … However, genome sequencing failed to detect some disease conditions that were detected by traditional … – for various conditions, including obesity, heart disease, type 2 diabetes, and kidney disease. Researchers …
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… All Children’s Hospital St. Petersburg, FL National Disease Research Interchange Philadelphia, PA University of … as well as a tissue bank to study the regulation of gene expression in multiple relatively healthy reference … this resource to advance our understanding of a myriad of disease conditions. Additionally, the Non-Human Primate …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… have a few different goals. We’re trying to discover new associations between genes and disorders. We are also … lead to clinical trials and decrease the burden of disease of our patients. … When the first patient came to our clinic, we found their disease-causing genomic variant and looked for other patients …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… Us Research Program, and UK Biobank to better understand disease and drug response. Prior to joining the NIH in 2020, … Dr. Denny’s laboratory seeks to discover gene-disease relationships by gathering, assessing, and analyzing … the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics , 26 (9), …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… Polygenic risk scores report an estimate of the measure of disease risk based on the predicted combined effects of small …
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.
… as a backbone for many studies of human populations and disease. Because of this, NHGRI is committed to supporting … Nano-sized solution for efficient and versatile CRISPR gene editing ALS gene may be a hitchhiker’s guide to the neuron Gene …