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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, …
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. …
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 … ancestry populations. CRGGH published the first GWAS for blood pressure (BP) in AA using data from the Howard … 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 … genetic condition (hereditary neuropathy with liability to pressure palsies - HNPP) that causes carpal tunnel syndrome … that the testing was a way of determining whether the high incidence of repetitive-stress injuries among its …
The Genomics Landscape
In the March 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights a strategic planning effort to establish a 2020 vision for genomics.
… Cigarette Smoking Behavior to Identify Genes that Regulate Blood Pressure Notable Accomplishments in Genomic Medicine New …
Outreach
The Genome: Unlocking Life's Code exhibition celebrates the 10th anniversary of the initial sequencing of the human genome.
… the Smithsonian Institution in Washington, D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
… against cancer cell lines in laboratory dishes. Such high-throughput screening has identified thousands of drug … neural cells - which will help the adult fish sense water pressure - travels the entire length of the embryo, driven by … it is highly complementary to generally practiced forms of high- throughput screening," he said. In the current study, …
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 …
News Release
The skin microbiota plays an intricate role in the human immune system, directing many immune functions and defending against bacterial pathogens.
… in chronic inflammatory and autoimmune disorders seen in high-income countries." If S. epidermidis fails to confine S. …