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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 … outcomes related to human papillomavirus disease in GATA2 deficiency . Transplant Cell Ther . 2021 …
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 …
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.  … After ~16 years as Clinical Director within … first new disease - Arterial Calcification due to Deficiency of CD73; this work was published in the New …
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 …
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… ! 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 …
Fact Sheet
El consentimiento informado es más que un formulario; es un proceso. ¿Qué implica?
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. … some peoples’ genome sequences.  To address this deficiency, researchers are working to generate a more …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… … Dr. Solomon earned his medical degree from Geisel School of Medicine at Dartmouth. He completed medical training in … his work focused on understanding the causes and biology of a number of congenital disorders as well as applying emerging …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… and Events Calendar 4 New Chief Executive Officer, NIH All of Us Research Program Selection of Dr. Joshua Denny as Chief Executive Officer of the All of … Gaucher disease discordant for Parkinsonism Pavan - NPC1 deficiency in mice is associated with fetal growth …
Clinical Research
El Programa de Enfermedades no Diagnosticadas (UDP) proporcionar respuestas a los pacientes con afecciones misteriosas que han eludido el diagnóstico durante mucho tiempo.
… 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: …