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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.
… Network adds five new sites 2017 March 15, 2017: NHGRI's Cynthia Tifft receives 2017 NORD Rare Impact award National …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… with neurodegeneration. … Toro C , Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, et al; C4RCD Research Group. … Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C … McGraw Hill; 2022. Gahl WA, Adams DR Markello TC, Toro C , Tifft CJ. Genetic approaches to rare and undiagnosed …
The Genomics Landscape
In the December 8, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., looks back on the success of the Genome: Unlocking Life's Code exhibition as it came to a close in November.
… Genomics Videos GM1 gangliosidosis disease overview - Dr. Cynthia Tifft Irreducible subjects: Disability and genomics in the …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Blood Spot DNA to Improve and Expand Newborn Screening Cynthia Powell Jonathan Berg University of North Carolina at …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… R, Nehrebecky M, Wahl C, Yang S, Madeo A, Boerkoel CF, Tifft CJ, Adams D. The NIH Undiagnosed Diseases Program: … rare diseases . Genet Medicine , 14:51-9. 2012. Gahl WA, Tifft CJ. The NIH Undiagnosed Diseases Program: Lessons … Schanze D, Vensalaar H, Fulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh …
File
… National Organization for Rare Disorders Document 47 Cynthia Tifft , M.D., Ph.D. New President - Elect, American Society …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… 2022. Gahl, WA, Adams, D.R.; Markello, T.C.; Toro, C.; Tifft, C.J. (2019). Genetic approaches to rare and …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… from 1-3 p.m. Eastern, Dr. Gahl, his collaborator, Cyndi Tifft, M.D., Ph.D., NHGRI deputy clinical director; and Chad …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. The skeletal phenotype of intermediate GM1 … Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J, Tifft CJ, Gordon-Lipkin E . Progressive cerebellar atrophy …