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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… Ghana, Kenya and Nigeria as part of the Africa America Diabetes Mellitus study.  Charles Rotimi, Ph.D., scientific …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Weight on Psychosocial Well-being Among Individuals with Diabetes Sydney Telaak Postbaccalaureate Fellow, Persky Lab  …
News Release
American Indians and Alaska Natives IRB training programs at NIH ensure the welfare of people participating in federally regulated research.
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… J, Johnson T, Oli J, Adebamowo CA, Rotimi Cn. Impact of Type 2 Diabetes on Impaired Kidney Function in Sub-Saharan African …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… pan-genome is quite large with 80% core genes (~2,000 total) and the remaining 20% of genes selected from a … of the human skin microbiome. Science , 324(5931):1190-2. 2009. [ PubMed ] Grice EA, Kong HH, Renaud G, Young AC; …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… participate. To be in our study a person must: Be at least 2 years of age at study enrollment. Have a confirmed … MD 20892-4754  To find this study on clinicaltrials.gov, type our unique study identifier in the search box: … find all studies related to inborn errors of metabolism, type "inborn errors of metabolism" in the search box. … Goals …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Tay-Sachs and Sandhoff diseases, GM1 gangliosidosis and type 1 sialidosis.  In May 2019 Dr. Tifft and her “all-woman … first-in-human gene therapy trial for patients with Type I and Type II GM1 gangliosidosis. Connecting with desperate …
Fact Sheet
En la actualidad, la terapia génica para la enfermedad de células falciformes se considera experimental y solo está a su disposición si participa en un estudio clÃnico.
… los investigadores si el tratamiento funcionó.  … Paso 2: Elegibilidad  Su elegibilidad para participar en un … es posible que: deje de recibir hidroxiurea durante 2–3 meses. reciba transfusiones de sangre todos los meses … a prevenir y tratar infecciones. Paciente ambulatorio: 2–3 meses Una vez que el médico del estudio clÃnico determine …
Hoja Informativa
Su salud mental y su salud fÃsica están Ãntimamente conectadas. La salud mental es importante para su salud y su calidad de vida.
Fact Sheet
Diversos enfoques se dirigen a las células madre sanguÃneas para aliviar o reducir los sÃntomas de la anemia de células falciformes.