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Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In patients with GD, this enzyme does … neuronopathic, which affects the nervous system (types 2 and 3) and non-neuronopathic (type 1). Type 1 GD: This is …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth University) in … thesis was "Biochemical and Immunological Characterization of Serum Biotinidase in Normal and Biotinidase-deficient … MUC1 and UMOD as the causative genes in MCKD types 1 and 2, respectively. They have also identified REN mutations as …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Tifft CJ. The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. Neurosci Lett. 2021 Nov … her B.A. in biology from Revelle College at the University of California at San Diego and her M.S. in genetic counseling … GM1 gangliosidosis is a rare disorder caused by the enzyme deficiency of lysosomal b-galactosidase. The researchers have …
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 … for treatment of WHIM syndrome . J Clin Invest . 2023 Oct 2;133(19):e164918. Desai JV, Urban A, Swaim DZ, Colton B, … 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 … care. … To enroll in our study, a person must: Be between 2 and 70 years of age. Be able to travel to and be admitted …
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 …
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… ADDENDUM (OUTCOMES OF ISHGG, 2016) : A) Publications: 1. Adeyemo WL Genetics and Genomics Etiology of Non -Syndromic Orofacial Clefts. Invited Commentary, MGGM. 2017. (Accepted). 2. Ariani Y, Soeharso P et al. Genetic and genomic medicine …
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… ! 301.718.9604 fx ! www.acmg.net September 7, 2016 Summary of Recent Activities of The American College of Medical … of best practices for the delivery of genomic medicine. 2) Education: Provide education and tools for medical … 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 … such a location on both chromosomes, such as with Person 2 and Person 3.  Another group of small genomic variants are … some peoples’ genome sequences.  To address this deficiency, researchers are working to generate a more …