Search Results
For Patients and Families
A list of resources and information on financial aid for medical treatment.
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… changes in Federal and state policy warrant. Health Care Choices provides information to the public on selecting and … of health insurance and managed care plans. Health Care Choices P.O. Box 21039 Columbus Circle Station New York, NY …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… gene cause FMF. MEFV encodes a protein called pyrin. In healthy people, pyrin plays a role in the inflammatory … molecule that represses the function of pyrin in healthy individuals. In doing so, the pathogen suppresses the … mice with FMF-causing genomic variants. They infected both healthy and genetically engineered mice with Yersinia pestis …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… inactive gene along with one copy of the active gene - are healthy. They do not have Tay-Sachs disease but they may pass … parents who are Tay-Sachs carriers to give birth to healthy babies. Embryos created in-vitro are tested for … before being implanted into the mother, allowing only healthy embryos to be selected. Additional Resources Medline …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… compared the exome in 97 undiagnosed patients to their 113 healthy siblings using a menu of techniques to detect … undiagnosed diseases compared to 5.8 faulty genes in their healthy brothers and sisters. Researchers then investigated …
News Release
The National Institutes of Health (NIH) Genomic Data Sharing Policy includes expectations for how researchers should obtain, share and access genomic data from human and non-human sources. As a leader in genomics, including relevant policy development and implementation, the National Human Genome Research Institute (NHGRI) encourages data sharing practices that go beyond the NIH expectations.
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… of years ago, whalers and merchant ships carried goats for food and allegedly dropped them off on the island before … with a goat genome because of the animals' importance as a food source in developing countries," said Timothy P. Smith, …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… interest in a subtype of obesity: the metabolically healthy obesity (MHO) and microbiome in health and diseases. … into protective molecular mechanisms in metabolically healthy obese African Americans. NPJ Genom Med. 2018 Jan 29; … Proinflammatory and lipid biomarkers mediate metabolically healthy obesity: A proteomics study. Obesity (Silver Spring). …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
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… and federal legislation; coordinated interactions with the Food and Drug Administration; and researched the societal …
File
… to research participants: The floor, the ceiling, and the choices in be -tween. AJHG 2014. 14. Kircher et al., A … challenges in the application of genomic tools for healthy populations. 9. Veenstra. Economic considerations in … a pilot study implementing targeted genomic analyses in a healthy population . 11. Plon et al. Display of genetic …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators