Suppr超能文献

结节性硬化症联盟在推进治疗开发中的作用:患者组织视角

The role of the TSC Alliance in advancing therapy development: a patient organization perspective.

作者信息

Roberds Steven L, Fuchs Zoë, Cassidy Elizabeth M, Metzger Samantha, Abi Ayat, Pounders Ashley J, Aguiar Dean J

机构信息

TSC Alliance, 8737 Colesville Road, Silver Spring, MD 20910, USA.

TSC Alliance, Silver Spring, MD, USA.

出版信息

Ther Adv Rare Dis. 2024 Jul 25;5:26330040241265411. doi: 10.1177/26330040241265411. eCollection 2024 Jan-Dec.

Abstract

Tuberous sclerosis complex (TSC) is a genetic disease leading to malformations, or tubers, in the cerebral cortex and growth of tumors, most frequently in the brain, heart, kidneys, skin, and lungs. Changes in the brain caused by TSC usually have the biggest negative impact on quality of life. Approximately 85% of individuals with TSC have epilepsy, and TSC-associated neuropsychiatric disorders (TAND) affect nearly all individuals with TSC in some way. TSC Alliance's research strategy is built upon both funding and catalyzing research. Through grants, the organization provides funding directly to researchers through a competitive application process. The organization has also built a set of resources available to researchers worldwide, including a Natural History Database, Biosample Repository, and Preclinical Consortium. These resources catalyze research because they are available to qualified academic or industry researchers around the world, enabling an almost unlimited number of scientists to access data and resources to enable and accelerate research on TSC. This research strategy continues to be shaped by the needs and priorities of the TSC community, working toward a future where everyone affected by TSC can live their fullest lives.

摘要

结节性硬化症(TSC)是一种遗传性疾病,可导致大脑皮质出现畸形或结节,并引发肿瘤生长,最常见于脑、心脏、肾脏、皮肤和肺部。TSC引起的脑部变化通常对生活质量产生最大的负面影响。约85%的TSC患者患有癫痫,TSC相关神经精神障碍(TAND)几乎以某种方式影响着所有TSC患者。TSC联盟的研究策略基于资助和推动研究。通过拨款,该组织通过竞争性申请程序直接向研究人员提供资金。该组织还建立了一系列可供全球研究人员使用的资源,包括自然史数据库、生物样本库和临床前联盟。这些资源推动了研究,因为世界各地合格的学术或行业研究人员都可以使用它们,使几乎无限数量的科学家能够获取数据和资源,以促进和加速对TSC的研究。这一研究策略继续根据TSC群体的需求和优先事项进行调整,朝着一个受TSC影响的每个人都能过上最充实生活的未来努力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6d/11273576/99ebd5ecbddf/10.1177_26330040241265411-fig1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验