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Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… went to medical school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at … and Clinical Biochemical Genetics. She also holds a Master of Public Health degree from Johns Hopkins University School of Public Health (Bloomberg School of Public Health). Since …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… to TmT presentations from previous years.  Click on any of the presentation titles to view the videos or view the …  From Diapers to Dermis: Understanding the Development of Skin Microbiomes Zeyang Shen Postbaccalaureate Fellow, … Postdoctoral Fellow, Medical Genetics Branch  Development of a high-throughput framework to improve the replicability …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with … related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical … with little warning. There is no cure for any type of MMA, but special diets, vitamin therapies and in some …
File
… ADDENDUM (OUTCOMES OF ISHGG, 2016) : A) Publications: 1. Adeyemo WL Genetics and Genomics Etiology of Non -Syndromic Orofacial Clefts. Invited Commentary, MGGM. … 2017 (In preparation). 3. Ariani Y, Soeharso P et al. Loss of heterozygosity in children with multiple congenital …
File
… ! 301.718.9604 fx ! www.acmg.net September 7, 2016 Summary of Recent Activities of The American College of Medical Genetics and Genomics The … Genes in a Gene Panel ¥ Laboratory Diagnosis of Creatine Deficiency Syndromes: A Technical Standard and Guideline of …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… (see story below). This gathering was nothing short of intense, stimulating, and exhilarating, with numerous … and accomplishments from the institute and the field of genomics.  … first new disease - Arterial Calcification due to Deficiency of CD73; this work was published in the New …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… compared to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to large differences.  A very small subset of genomic variants contributes to human health and disease. … to a reference human genome sequence; that person’s set of genomic variants accounts for the ~0.4% difference.  The …
Fact Sheet
El consentimiento informado es más que un formulario; es un proceso. ¿Qué implica?
Investigación ClÃnica
El Programa de Enfermedades No Diagnosticadas de los NIH brinda respuestas a pacientes con afecciones misteriosas que durante mucho tiempo han eludido el diagnóstico.
… The Undiagnosed Diseases Network 2014 July 21, 2014: One of a Kind: What would you do if your child has a condition … News, 60 Minutes May 7, 2012: Disease Detectives: Clinic of Last Resort WFTV-TV Orlando, FL March 8, 2012: Mysterious … brain lesions send Pasco County man to National Institutes of Health for answers Tampa Bay Times February 29, 2012: …
Archive
… Rapid, New Test Developed for Inherited Immune Deficiency …