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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 …
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.
…  List of DTC genetic tests approved by the U.S. Food and Drug Administration (FDA)  International Society of … testing may be performed to further optimize medication choices.  Educating patients about lifestyle changes and …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… specific topic of the study]. The study includes both healthy volunteers and people who have [condition, if … require plans to destroy samples — or at least to offer choices about the disposition of samples — when participants …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… a defective or missing gene in a patient’s cells with a healthy version of that gene. Both inherited genetic diseases …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… can be challenging: investigators should ensure that any choices participants can make are clearly described and … form does not allow participants to make conflicting choices or choices that will be difficult for researchers to interpret. …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Research Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… are appropriate for the proposed study and justify these choices in their applications. For this RFA, can an applicant … study and should explain the rationale for their proposed choices. NHGRI is interested in predictive modeling …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… and urogenital tract, using samples collected from 300 healthy adult men and women. They used DNA sequencing … conditions. The researchers studied the microbiome of healthy and affected individuals for each of the conditions, … 9% -- a nearly 50% difference. Because a pregnant woman’s healthy vaginal microbiome is closely associated with the …
Event
A public two-day National Institutes of Health (NIH) symposium that brings together experts from the biological and social sciences to clarify and contextualize – but not resolve - the complexities around sex, gender, and genomics by considering them in their scientific, ethical, and historical contexts.