Translating Discovery to Therapy

美国数十万人的生活受到多样化和 涉及来自外胚层的组织的破坏性条件。举个例子，外胚层 发育不良(ED)代表100种罕见的遗传性疾病，其特征是皮肤、头发和 指甲、牙齿、腺体(汗液、眼部、呼吸系统、乳房等)和其他衍生物 外胚层。国家外胚层发育不良基金会(NFED)成立于1983年，是 唯一的美国和最成熟的致力于EDS的国际倡导组织。NFED 对研究有坚定的承诺，并坚定不移地支持研究和倡导 改善受急救措施影响的个人的健康和生活质量。虽然先进的技术 诊断和了解遗传性皮肤病的病因有了显著的进步， 针对这些不同罕见疾病的发病率和死亡率的治疗一直滞后。 此应用程序请求支持国际会议“将Discovery翻译为 治疗“将于2021年10月21日至24日在北卡罗来纳州夏洛特举行。我们将召集研究人员 和来自世界各地的科学家，他们是组织领域的主要研究人员 再生、伤口愈合、干细胞研究、基因治疗等前沿领域 技术和方法。其目标是显著影响 将发现转化为新的治疗方法，旨在解决发病率和死亡率 与影响外胚层组织的罕见疾病有关。带着调查人员 在这次会议上的共同努力将促进新的合作和研究方向 关于填补关键知识空白和开发新的治疗方法和疗法 受这些情况影响的不同人群。会议结构将以全体会议为特色 会议和有重点的会谈，随后举行分组会议，具体讨论 合作研究，阻碍治疗进展的知识差距。我们已经准备好了 短期和长期目标，包括制定1至2年的治疗时间表 可交付成果和长期目标，以发展新的合作和感兴趣的调查人员 确保针对新的治疗方法开发的持续努力。 这次会议具有很高的相关性，因为它解决了关键的医疗保健需求，并将带来新的 指导和具有不同专业知识的新研究人员和临床医生，以及专注于 任务。我们相信，这种“登月”方法将产生新的医疗保健方法， 可以有效地处理与遗传性疾病相关的显著病态和死亡率 涉及外胚层组织的情况。

The lives of hundreds of thousands of people in the United States are affected by diverse and devastating conditions involving tissues derived from ectoderm. As an example, ectodermal dysplasias (ED) represents >100 rare genetic disorders characterized by defects in skin, hair, nails, teeth, glands (sweat, ophthalmic, respiratory, mammary, etc.), and other derivatives of ectoderm. Founded in 1983, the National Foundation for Ectodermal Dysplasias (NFED) is the sole USA and the most established international advocacy group dedicated to EDs. The NFED has a strong commitment to research and has steadfastly supported research and advocacy to improve the health and quality of lives of individuals affected by EDs. While advances in diagnostics and understanding the etiopathology of genodermatoses have markedly advanced, therapies to address morbidity and mortality for these diverse rare diseases have lagged. This application requests support for an international conference "Translating Discovery to Therapy" to be held in Charlotte NC October 21-24, 2021. We will bring together researchers and scientist from across the globe who are leading investigators in the areas of tissue regeneration, wound healing, stem cell research, gene therapy and other cutting-edge technologies and approaches. The goal is to markedly impact the direction and speed of translating discovery to novel therapeutics directed at addressing the morbidity and mortality associated with rare disease affecting tissues of ectodermal origin. Bringing investigators together at this conference will stimulate new collaborations and research directions that focus on filling critical knowledge gaps and the development of new treatments and therapies for the diverse populations impacted by these conditions. The conference structure will feature plenary sessions and focused talks followed by breakout sessions to specifically address the issues of collaborative research, gaps in knowledge hindering advancement to therapy. We have set short term and long term goals that include targeting a 1 to 2 year timeline for a therapeutic deliverable and a long term goal to develop new collaborations and interested investigators to ensure a sustained effort directed at novel treatment development. This conference is highly relevant as it addresses a critical health care need and will bring new directions and new investigators and clinicians with diverse expertise together with a focused mission. We believe this "moonshot" approach will result in new health care approaches that can effectively address the significant morbidly and mortality associated with hereditary conditions involving ectodermal tissues.