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NIH Researchers Identify genetic cause of new vascular disease – Rare disease is the first discovered in Undiagnosed Diseases Program
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Statement Issued from the 2nd Meeting of the International Rare Diseases Research Consortium
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Rare Diseases Day 2011
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Spotlight Announcements / Calendar of Events

Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, July 13, 2011 - July 16, 2011

International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, July 29, 2011 - July 31, 2011

End of Life Palliative Care National Science Summit, August 10, 2011 - August 12, 2011

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Urea Cycle Disorders Consortium Benefits from CTSA Leverage

The Urea Cycle Disorders Consortium (UCDC), directed by Dr. Mark Batshaw is currently conducting a longitudinal, natural history study involving medical record reviews, physical exams, laboratory testing, nutrition analysis and neuropsychological testing of individuals with UCD in order to learn more about the disorders, their treatment, and ways to help improve outcomes for affected patients.

Clinical and Translational Science Award (CTSA) Programs are playing a vital role in the success of this study at the UCDC’s U.S. based sites. Of the twelve UCDC member-institutions located in the U.S., nine have CTSA programs and another is in the process of transitioning from a General Clinical Research Center to a CTSA program. According to Jennifer Seminara at National Children's Hospital, six of these CTSA programs provide services used for the Longitudinal Study of Urea Cycle Disorders, such as rooms for physical exams and participant interviews, nursing services, phlebotomy, research assistant support, psychological services, and nutritional analysis. The specialized infrastructure support offered through the CTSA programs helps to reduce the UCDC’s operating costs since the CTSA programs can be used on an as-needed basis.

Mark L. Batshaw, M.D.
Principal Investigator, Urea Cycle Disorders Consortium
Chief Academic Officer
Children's National Medical Center
Professor and Chair, Department of Pediatrics
Associate Dean for Academic Affairs
The George Washington University School of Medicine and Health Sciences

Web Site for the Urea Cycle Disorders Consortium: http://www.RareDiseasesNetwork.org/ucdc/

www.RareDiseasesNetwork.org	The Rare Diseases Clinical Research Network (RDCRN) was established by the National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 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 Rare Diseases Clinical Research Network is comprised of a Data Management Coordinating Center and 19 consortia studying over 100 rare diseases.
	Funding and/or programmatic support for the Rare Diseases Clinical Research Network (RDCRN) has been provided by NIH Office of Rare Diseases Research (ORDR), NINDS, NIAID, NIDDK, NICHD, NIAMS, NIAID, NIDCR, NHLBI, and NCI.
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.

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Urea Cycle Disorders Consortium Benefits from CTSA Leverage