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

www.RareDiseasesNetwork.org

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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

About Spotlight

Past Issues

Editorial Board

 

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.

Collaboration between RDCRN and CTSA at the University of Kansas Medical Center


Richard J Barohn, M.D.

Professor of Neurology at University of Kansas Medical Center

The University of Kansas Medical Center was awarded one of the last five CTSA grants in June 2011. Richard J. Barohn, M.D., Professor of Neurology at University of Kansas Medical Center is one of the two principal investigators on the University of Kansas Medical Center CTSA initiative, Frontiers: The Heartland Institute for Clinical and Translational Research.

Frontiers has a particularly strong focus in T1 (drug development research and patient oriented research) as well as T2 (outcomes and health disparities research) in rural and American Indian communities. While Frontiers is based at the University of Kansas, the projectbrought together two other partner institutions – University of Missouri at Kansas City and Kansas City University of Medicine and Biosciences.

Dr. Barohn will bring to the CTSA Steering Committee a strong perspective of the importance of clinical and translational research in the field of rare diseases. He has joined the CTSA Rare Diseases Subcommittee, which is being chaired by Peter Merkel. Dr. Griggs and Dr. Robertson also sit on this committee. One of the short-term goals of this committee will be to heighten the awareness of the importance of rare disease research in the CTSA Steering Committee. Dr. Merkel, Dr. Barohn, and the rest of the CTSA Rare Diseases Subcommittee are moving forward with their plan to initially inform the CTSA PIs on the importance of research in rare diseases.

There is a natural intersection between the RDCRN, and CTSAs to promote awareness and expansion of research in rare diseases.

Dr. Barohn has been associated with the RDCRN since its inception, as the Co-Principal Investigator of the Consortium for the Investigation of Neurologic Channelopathies (CINCH), on which Robert Griggs, M.D. is the PI. Dr. Barohn has focused his career on the understanding of neuromuscular diseases (neuropathies, myopathies, anterior horn cell disease, neuromuscular junction disorders, channelopathies) for the last 25 years. He and the clinic team recently successfully completed a randomized, placebo-controlled trial of mexiletine in nondystrophic myotonia and demonstrated mexiletine-reduced muscle stiffness in patients who have one of these rare disorders.

As another indication of this pivotal bond, Dr Barohn was selected to join the Executive Committee of the CTSA in November, 2011.