Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference

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• 作者：Mustafa Sahin ; MD ; PhD^a ; ^{mustafa.sahin@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Elizabeth P. Henske ; MD^b ; Brendan D. Manning ; PhD^c ; Kevin C. Ess ; MD ; PhD^d ; John J. Bissler ; MD^e ; Eric Klann ; PhD^f ; David J. Kwiatkowski ; MD ; PhD^b ; Steven L. Roberds ; PhD^g ; Alcino J. Silva ; PhD^h ; Coryse St. Hillaire-Clarke ; PhDⁱ ; Lisa R. Young ; MD^j ; ^k ; Mark Zervas ; PhD^l ; Laura A. Mamounas ; PhDⁱ ; ^{mamounas@ninds.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; on behalf of the Tuberous Sclerosis Complex Working Group to Update the Research PlanJohn Blenis ; PhD^m ; Thomas N. Darling ; MD ; PhDⁿ ; Vera P. Krymskaya ; PhD ; MBA^o ; Joel Moss ; MD ; PhD^p ; Elahna Paul ; MD ; PhD^q ; Mario Pende ; PhD^r ; ^s ; ^t ; ^u ; ^v ; ^w ; Minkyung H. Song ; PhD^x ; Andrew J. Wagner ; MD ; PhD^y ; Anna W. Byars ; PhD^z ; Diane C. Chugani ; PhD^aa ; Gabriella D'Arcangelo ; PhD^bb ; Petrus J. de Vries ; MD^cc ; Michael J. Gambello ; MD ; PhD^dd ; Wendy B. Macklin ; PhD^ee ; Charles A. Nelson ; PhD^ff ; ^gg ; E. Martina Bebin ; MD ; MPA^hh ; Peter B. Crino ; MD ; PhDⁱⁱ ; David Franz ; MD^jj ; Brandy E. Fureman ; PhD^kk ; Henrik Klitgaard ; PhD^ll ; Darcy Krueger ; MD ; PhD^mm ; Elizabeth Thiele ; MD ; PhDⁿⁿ ; Howard L. Weiner ; MD^oo ; Michael Wong ; MD ; PhD^pp ; Joyce Y. Wu ; MD^qq ; Karen Cichowski ; PhD^rr ; ^ss ; ^tt ; Channing Der ; PhD^uu ; Leon O. Murphy ; PhD^vv ; Mark Nellist ; PhD^ww ; Hope Northrup ; MD^xx ; Norbert Perrimon ; PhD^yy ; Kari Luther Rosbeck^zz ; Reuben J. Shaw ; PhD^aaa ; Cara Long ; PhD^bbb ; Heather Rieff ; PhD^ccc
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：60
• 期：Complete
• 页码：1-12
• 全文大小：325 K

文摘

On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex with the goal of updating the 2003 Research Plan for Tuberous Sclerosis (gov/about_ninds/plans/tscler_research_plan.htm">http://www.ninds.nih.gov/about_ninds/plans/tscler_research_plan.htm). In addition to the National Institute of Neurological Disorders and Stroke and Tuberous Sclerosis Alliance, participants in the strategic planning effort and workshop included representatives from six other Institutes of the National Institutes of Health, the Department of Defense Tuberous Sclerosis Complex Research Program, and a broad cross-section of basic scientists and clinicians with expertise in tuberous sclerosis complex along with representatives from the pharmaceutical industry. Here we summarize the outcomes from the extensive premeeting deliberations and final workshop recommendations, including (1) progress in the field since publication of the initial 2003 research plan for tuberous sclerosis complex, (2) the key gaps, needs, and challenges that hinder progress in tuberous sclerosis complex research, and (3) a new set of research priorities along with specific recommendations for addressing the major challenges in each priority area. The new research plan is organized around both short-term and long-term goals with the expectation that progress toward specific objectives can be achieved within a five to ten year time frame.