Frontiers in Ichthyosis Research

描述（由申请人提供）：鱼鳞病是用于描述几十种罕见的表皮角化单基因疾病的广义术语。每年有超过16000名婴儿出生时患有某种形式的鱼鳞病。鱼鳞病对大多数受影响的人来说是毁容的，许多人在某些部位疼痛，比如手掌和脚底。有些有医学并发症，如脱水、反复感染、慢性起泡和过热。鱼鳞病的综合征形式包括内脏器官和皮肤。一些鱼鳞病患者与心理问题作斗争，如孤立、自卑和抑郁。这种疾病通常在出生时或出生后一年内出现，并持续影响患者直至死亡。鱼鳞病影响所有年龄、种族和性别的人，并对受影响个人以外的家庭产生重大影响。在过去的二十年里，在鉴定导致鱼鳞病的基因和阐明表皮至关重要的功能方面取得了巨大的进展。同时，独立的组织，如F.I.R.S.T，已经出现，直接支持患者的需求，并直接或间接地支持鱼鳞病的研究。从未有过一个由鱼鳞病患者激发其研究或其研究对鱼鳞病患者有直接影响的研究人员的国际会议。随着基础生物科学发现步伐的加快，人们普遍热衷于将这些信息应用于真正的患者问题。这个应用程序是为了支持一个会议，这将是一个促进研究人员之间以及患者和研究人员之间合作的机会。已选出一个国际专家小组来介绍最近的工作，确定前沿，并领导讨论。最近许多与鱼鳞病相关的发现都发生在实验室，而不是传统上专注于皮肤或皮肤疾病。这次会议将是这些研究人员从患者身上获得灵感和向那些在这些罕见疾病方面有更多经验的人学习的机会。我们期望在会议结束时就重要的新的研究重点领域和富有成效的合作领域达成普遍共识。特别是，如果能够确定可用于这类疾病的新技术，将是有益的。这种共识还可以帮助各种资助机构确定研究重点。

DESCRIPTION (provided by applicant): Ichthyosis is the broad term used to describe several dozen rare, monogenic disorders of epidermal keratinization. Each year, more than 16,000 babies are born with some form of ichthyosis. Ichthyosis is disfiguring for most affected individuals and many suffer from pain in certain areas, such as the palms and soles. Some have medical complications, such as dehydration, recurrent infections, chronic blistering, and overheating. Syndromic forms of ichthyosis involve internal organs as well as the skin. Some patients with ichthyosis struggle with psychological issues, such as isolation, low self-esteem, and depression. The disease usually presents at birth, or within the first year, and continues to affect the patient until death. Ichthyosis affects people of all ages, races and gender and significantly impacts families beyond the affected individuals. Enormous progress in the identification of genes responsible for causing ichthyosis and in the elucidation of critically important functions of epidermis has occurred over the past twenty years. Simultaneously, independent organizations, such as F.I.R.S.T., have emerged to directly support patients' needs and, both directly and indirectly, support research in ichthyosis. There has never been an international meeting of investigators whose research has been stimulated by patients with ichthyosis or whose research has direct implications for those with ichthyosis. With the quickening pace of discovery in the basic biological sciences, there is broad enthusiasm to apply that information to real patient problems. This application is to support a meeting that will be an opportunity to foster collaboration between investigators and between patients and investigators. An international panel of experts has been chosen to present recent work, identify frontiers, and lead the discussion. Many recent discoveries relevant to ichthyosis have occurred in labs not traditionally focused on skin or skin disease. This meeting will be an opportunity for those investigators to be inspired by patients and learn from those with more experience in these rare diseases. We expect that at the conclusion of the meeting, a general consensusmight emerge concerning important new areas of research focus and fruitful areas of collaboration. In particular, it will be useful if new technologies can be identified which can be brought to bear on this group of diseases. Such a consensus also could help a variety of funding agencies establish research priorities.