A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop.

Therapeutic advances in rare disease Pub Date : 2024-09-05 eCollection Date: 2024-01-01 DOI:10.1177/26330040241273464
Margaret C Savage, Geraldine Bliss, Joseph D Buxbaum, Jordan S Farrell, April R Levin, Siddharth Srivastava, Elizabeth Berry-Kravis, J Lloyd Holder, Mustafa Sahin
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Abstract

On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recommendations. In addition to patient families and members of the CureSHANK community, participants in the conference included a broad cross-section of preclinical and clinical researchers and clinicians with expertise in SHANK3-related epilepsy as well as representatives from the pharmaceutical industry. Here we summarize the outcomes from comprehensive premeeting deliberations and the final conference recommendations, including (1) gaps in knowledge related to clinical science, (2) gaps in knowledge related to preclinical science, and (3) research priorities moving forward.

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与 SHANK3 有关的癫痫研究路线图:2023 战略规划研讨会的建议。
2023 年 9 月 27 日,CureSHANK 非营利基金会在马萨诸塞州波士顿市主办了一次会议,以确定 SHANK3 相关癫痫知识方面的差距,从而确定未来的研究重点和建议。除患者家属和 CureSHANK 社区成员外,参加会议的还有临床前和临床研究人员、具有 SHANK3 相关癫痫专业知识的临床医生以及制药行业的代表。在此,我们总结了会前综合讨论的成果和会议的最终建议,包括(1)临床科学相关知识方面的差距;(2)临床前科学相关知识方面的差距;以及(3)未来的研究重点。
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