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The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… a public-private partnership involving NIH, the U.S. Food and Drug Administration, biopharmaceutical and life …
Research Funding
Frequently asked questions specific to the Data Production FOA (RFA-HG-21-029, RFA-HG-21-030 and RFA-HG-21-031) discussed during the MorPhiC pre-application webinar.
… Your rationale for prioritization should reflect how your choices will contribute to that aspect of “generalizability.” … assayed; etc. Applicants should consider and justify their choices in making these tradeoffs. We anticipate that … where they are well-justified. Please justify your choices in context with rest of FOA. Does the program …
Event
We invite scholars to submit ideas to be one of six to seven speakers at our symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future”, with an additional opportunity to join a collected set of papers on the same theme.
… with disabilities. Improved education, better-informed choices about care, and life-saving therapeutics have led to …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… means that we should be skeptical about whether checkbox choices are accurately capturing people’s preferences.” Based …
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… ill. The results of a diagnostic test may help you make choices about how to treat or manage your health. Predictive … and this information can also help people to make informed choices about their future, such as whether to have a baby. …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… forces such as pathogens, climate, and ancient food scarcity have shaped human genomes and how these genomic … and lipid biomarkers mediate the metabolically healthy obesity phenotype: A shotgun proteomics Study. …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… Today, the U.S. Food and Drug Administration (FDA) approved two gene …
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.
… from her mother and father. Though both parents are healthy, they each have a mutated GLB1 gene. With only one … the guts of a harmless virus and replacing them with a healthy gene that is programmed to make the missing enzyme. … was no longer a concern. This demonstrated to the U.S. Food and Drug Administration that they were ready to test the …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners. Without …