Newsletter of the Rare Diseases Clinical Research Network, an initiative of ORDR, NCATS
Volume 7, Issue 1. Spring 2017

Spotlight - Volume 7, Issue 1. Spring 2017

In this issue of Spotlight…

Investigating shared molecular targets between ANCA-associated vasculitis (AAV) and nephrotic syndrome (NS)
The National Center for Advancing Translational Sciences (NCATS) at NIH is keenly interested in seeing more research studying rare diseases in which efforts and expertise are pooled across research groups and diseases to identify commonalities and shared targetable mechanisms. The intention is that such collaboration will increase efficiency and capacity in the development of new therapies compared to traditional approaches that focus within a single disease.

mTOR pathway: a cross-consortium effort to understand mechanisms of rare diseases
It is becoming increasingly clear that problems with some basic cellular processes can contribute to diseases affecting different organs. One cellular signaling pathway that appears to be involved in multiple diseases is the mTOR pathway.

Dr. Robert Desnick and Dr. Cynthia Tifft to Receive Rare Impact Awards
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.

CTSA Collaborative Innovation Award Program
Projects supported under this program must involve collaboration with investigators from at least three different CTSA hubs and are intended to support the development of new technologies, methods or approaches to overcome roadblocks in translational science.

Central IRB Impact
NIH has announced a mandate requiring use of a single Institutional Review Board (sIRB) review for multi-site federally-funded studies. The intent of the mandate is to increase efficiency, uniformity, and reduce the time to obtain IRB approval for multiple sites on the premise that individual sites submitting research to their local IRBs is costly, results in duplication of effort, results in inconsistencies among sites, and delays implementation of research.


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.
Please send us your comments.

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.