Newsletter of the Rare Diseases Clinical Research Network, an initiative of ORDR, NCATS
Volume 7, Issue 1. Spring 2017
Rare Diseases Clinical Research Network (RDCRN) members Robert Desnick, PhD, MD, and Cynthia Tifft, PhD, MD, have been chosen by the National Organization for Rare Disorders (NORD) to receive 2017 Rare Impact Awards! With 30 million Americans with rare diseases in their membership, NORD is the largest non-profit organization for persons with rare diseases. Annually, NORD bestows Rare Impact Awards on individuals who are boldly paving pathways for persons living with rare diseases.
As a geneticist and pediatrician, Dr. Desnick has been treating genetic diseases for over 40 years. He currently serves as the Dean of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. Dr. Desnick was instrumental in establishing the Porphyrias Consortium as part of the Rare Diseases Clinical Research Network (RDCRN) Program, an initiative of the National Center for Advancing Translational Sciences. He remains the Consortium’s Principal Investigator. The Porphyrias Consortium is comprised of six leading porphyrias research centers and three satellite sites. These nine sites bring staff with remarkable experience and expertise in porphyrias together to collaborate on research efforts. Supported by the National Institute of Diabetes and Digestive and Kidney Diseases, the American Porphyria Foundation, and the RDCRN, the Porphyrias Consortium is collaboratively conducting clinical research in different porphyrias. The overarching goals of the consortium are to increase understanding of the pathogenesis of the porphyrias and to develop new strategies for the early detection and diagnosis, treatment, and prevention of the porphyrias. Current studies include a longitudinal natural history study where participants are followed for over five years, and a randomized controlled clinical drug trial. The Porphyrias Consortium also actively disseminates information to persons affected by porphyrias, including patients and their families, healthcare providers, advocates, other researchers, and other interested parties.
Also a geneticist and pediatrician, Dr. Tifft has done extensive research regarding lysosomal disorders affecting the central nervous system. In 2009, she became a clinical director of the National Human Genome Research Institute and its Pediatric Undiagnosed Diseases Program. By serving on the RDCRN National Institutes of Child Health and Human Development Data Safety and Monitoring Board/Observational Study Monitoring Board, Dr. Tifft has been a key contributor in advancing empirically sound and ethical research on rare diseases.
Dr. Desnick and Dr. Tifft are well deserving of these awards. Thirty-million congrats to you, Dr. Desnick and Dr. Tifft!
The staff of Spotlight are enthusiastic about the potential of our new publication to enhance communication among those interested in treatment and cure of rare diseases. We are very interested in your thoughts about how Spotlight can be improved. If you have suggestions for future issues, please let us hear from you.
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The Rare Diseases Clinical Research Network (RDCRN) was established by the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 400 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The RDCRN is comprised of a Data Management and Coordinating Center and 21 consortia studying over 200 rare diseases.
The Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences (ORDR, NCATS), is funded by ORDR, NCATS, NINDS, NIDDK, NICHD, NIAMS, NIAID, NIDCR, NHLBI, NIMH, and ODS.
The National Institutes of Health does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.