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News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … diagnoses and potential treatments for patients with these rare or new diseases. Recipients of the new NIH awards to … The goals of the program are to investigate compelling research questions that the study of undiagnosed conditions …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to improve human health. The National Human Genome Research Institute (NHGRI) provides both institutional and … : Extramural Loan Repayment Program for Pediatric Research (LRP-PR) NOT-OD-24-136 : Extramural Loan Repayment Program for Health Disparities Research (LRP-HDR) NOT-OD-24-137 : Extramural Loan Repayment …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… wee creature is making big waves in the sea of genomics research. The zebrafish is a powerhouse tool that helps … better understand the genes that are implicated in disease. And, here at the National Human Genome Research … from human patient samples that have a particular genetic disease. These findings can be specific mutations that cause …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… Over the past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As part of … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … a major scientific leadership role in the Intramural Research Program. …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease … available from researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
… The Social and Behavioral Research Branch (SBRB), an intramural research branch of the National Human Genome Research Institute (NHGRI), invites recent graduates to … translation of genomic discoveries for health promotion, disease prevention, genetic counseling, and health care …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … of work and a new life for someone with a devastating disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer … Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development and application of … focus on identifying genetic contributions to human disease. … genome and uncover genomic associations with health and disease. Members of the center perform research at the …