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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine because … lives. In my home country of Paraguay, you go from high school directly to medical school. I have to say that I … surgery. You can get some information from, for example, blood samples. But in some cases, the disorders are mosaic, …
Educational Resources
Chromatin is a substance within a chromosome consisting of DNA and protein.
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… published the first genome-wide scan for hypertension and blood pressure in African Americans and for type-2 diabetes in West … development of admixture mapping panels from commercial high-density SNP arrays, new methods for joint ancestry and …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… that collect employees' biometric data (e.g. weight, blood pressure, cholesterol levels) and use this information to … that the testing was a way of determining whether the high incidence of repetitive-stress injuries among its …
File
… Neutropenia Matthew Hsieh, M.D. National Heart, Lung and Blood Institute, NIH Project: Benign Ethnic Neutropenia Anne … University Project: Whole Exome Study of H ypertension and Blood Pressure in African Americans Professor Zhenjian Zhang, M.D. …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… yields new insights NIH scientists link higher maternal blood pressure to placental gene changes Genetic profile may …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… School  John Tisdale, M.D., National Heart, Lung, and Blood Institute, NIH Moderator: Dan Kastner, M.D., Ph.D., … Institutes of Health (NHGRI; the National Heart, Lung, and Blood Institute; the National Institute of Diabetes and …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… or by serving alongside diabetics to detect their low blood sugar. Now, an oncogene shared by dogs and humans … around drug resistance. Moreover, "because of the very high frequency of the mutation, examination of the dog tumors …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… parameters, such as MMA and/or homocysteine levels in the blood and/or urine, and clinical history. Dr. Venditti will … acids, sugar and proteins to measure kidney function. Blood tests to assess liver and thyroid function, blood … of blood do not undergo this procedure. Frequent blood pressure measurements, including overnight monitoring. Skin …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… … Edwards, T.L. (2019). Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Nat Genet …