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When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… Teresa Carey, M.A. … When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she … Research. When Sidransky came to the National Institutes of Health in the late 1980s, she wanted to learn molecular … General Hospital. She was looking at diseases of the brain. "I'm doing an autopsy on a patient with …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment approved by the FDA . … has led to substantial advances in discovering the causes of rare disorders. Many families have gone through years of …
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
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from the Johns Hopkins School of Medicine, Baltimore. He completed his post-doctoral … by genetic background. Pigment Cell Melanoma Res . 28(2):223-8. 2015. [ PubMed ] Fufa TD, Harris ML, Watkins-Chow …
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 …
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, … Disease Genomics Branch  Developing Therapies for cbIC Deficiency: AAV Gene Delivery Improves Survival in a Novel …
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 …
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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 …