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Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… "thalassemia trait." Most carriers lead completely normal, healthy lives. A child who inherits two thalassemia trait … who have thalassemia or carry the trait to give birth to healthy babies. Embryos created in-vitro are tested for the … gene before being implanted into the mother, allowing only healthy embryos to be selected. Additional Resources for …
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 …
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, …
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
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 …
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). …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… have the genomic mutations, and they can make reproductive choices based on that information."</p> <p>From …
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 …
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 …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… The goal of such research would be to discover ways healthy genes can be inserted into the retina. Attempts at transplanting healthy retinal cells into sick retinas are being made … photoreceptors by electrically stimulating the remaining healthy cells of the retina.Through electrical stimulation, …