Newsletter of the NIH Rare Diseases Clinical Research Network Volume 3, Issue 1. January 2012

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In This Issue

Message from Alan Percy, MD – Newly re-elected Chair of the Rare Diseases Clinical Research Network Spotlight on RDCRN Consortia: The Vasculitis Clinical Research Consortium Arginine Therapy in Argininosuccinic Aciduria and its Effects on Liver Dysfunction –Evidence Based Analysis from a Randomized Clinical Trial Lessons from the MILES Trial National Center for Advancing Translational Sciences (NCATS) Established Collaboration Between RDCRN & CTSA at The University of Kansas Medical Center The Ride for Rare Diseases: A Model for Consortia Cooperation STAIR PI Steiner Named Deputy Editor for Genetics in Medicine RDCRN Opens Over 20 New Studies for Patient Accrual

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Rare Diseases Headlines: Office of Rare Diseases Research launches web site for Rare Diseases Human Biorepostiories and Biospecimens (RD-HUB) >> More Stewardship and Public Access to Research Data >> More RDCRN Conditions Approved for Social Security Compassionate Allowance >> More

Featured Event: Rare Diseases Day 2012 >> More

Spotlight Announcements / Calendar of Events Lysosomal Disease Network: WORLD Symposium San Diego, CA Feb 8-10, 2012

Feedback 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. You can send your comments to RDNWebmaster@epi.usf.edu.

STAIR PI Steiner Named Deputy Editor for Genetics in Medicine

Robert Steiner, MD Professor, Department of Pediatrics and Molecular & Medical Genetics

Robert Steiner, MD, Professor, Department of Pediatrics and Molecular & Medical Genetics, and PI of the STAIR Consortium, was recently named Deputy Editor for the journal Genetics in Medicine (GIM). His term will begin January 2012.

"It’s an honor to have been named Deputy Editor of this prestigious journal, the official journal of the American College of Medical Genetics," said Dr. Steiner. "I look forward to working with the Editor, Jim Evans, Managing Editor Jan McColm, a fantastic group of section editors, and Nature Publishing Group to build on the journal’s reputation as a leading journal in clinical genetics."

The American College of Medical Genetics is the largest professional association of medical geneticists in the United States. The mission of its journal is to enhance the knowledge and practice of medical genetics.

GIM has been an invaluable resource for the medical genetics community over the past 20 years. Recently, the journal was ranked in the top 15% of all Genetics journals—based on articles being cited as references.*

* Thomson Reuters Impact Factor Journal Citation