ICF: Epigenomics Rare Diseases Node

表观基因组学和表观遗传学是研究基因的活性是如何被控制的。EpiGenRare节点将协调罕见疾病的表观基因组学研究。这一点很重要，因为已知有超过100种罕见的表观遗传疾病，它们共同代表了大量罕见疾病患者。表观遗传疾病的发现、诊断、理解和治疗仍然具有挑战性。此外，即使对于那些传统上不被视为表观遗传疾病的罕见疾病，能够研究患者所有DNA变化的表观基因组研究也很重要。（研究者、合作伙伴和协作者）包括相关学科、行业、和患者支持团体，包括英国各地的机构和处于不同职业阶段的研究人员。我们的团队建立在大量现有的基础设施，资金和跟踪记录，这将使我们能够应对该领域的挑战。在我们的网络活动中，我们将进行范围调查，以生成与该领域相关的个人和机构的名单，并邀请他们成为EpiGenRare的成员。在第二年和第五年之间，我们将举办两次多学科EpiGenRare会议。在五年的时间里，我们将在其他科学会议的同时安排至少四次EpiRare聚会。我们将在表观基因组学相关的其他会议上组织研究或教育会议，但传统上并不是这些会议的重点。我们将通过头脑风暴会议优先与罕见病平台的其他节点建立联系。为了协调，我们将组织一个虚拟的EpiGenRare（为研究者和合作伙伴）启动会议，然后是一个介绍性的EpiGenRare会议（为所有成员）。此后，我们将每4个月举行一次EpiGenRare运营会议。个别研究项目小组会议将以适当的频率组织，至少每月一次。我们还将成立EpiGenRare咨询委员会（包括科学和临床领导者，行业和患者和公众代表），每年举行一次会议。我们提出三个使能项目：（1）生成一个资源，将患者的基因组和表观基因组数据连接起来，供其他研究人员使用。(2)在动物模型中进行初步研究，以测试类似的治疗方法是否可用于具有共同临床特征和生物学机制的多种表观遗传疾病。(3)为表观遗传疾病的大规模药物测试生成经过充分研究的人类细胞模型资源。此外，我们已经与我们的合作者和英国罕见病平台的其他几个节点一起为未来的项目提出了想法。作为我们的病人和公众参与（PPI）计划的一部分，我们将建立在我们与各种相关的病人家庭支持团体现有的关系。患者支持小组将成为咨询委员会的一部分，并将参与推动网络活动以及研究和合作议程。我们将汇集几个处于不同发展阶段的患者支持小组。我们将与患者支持小组共同开发患者信息资源，组织家庭教育日，并共同制定基于证据的表观遗传疾病管理指南。总之，EpiGenRare节点是及时的，解决了几个未满足的需求，并将有助于提高英国罕见病平台的性能。我们的网络活动和PPI计划将导致建立一个罕见疾病表观基因组学的国家合作多学科网络，这将成为临床医生，研究人员，患者支持团体和政策领导者在罕见表观遗传疾病研究方面的国际参考。我们目前和未来的研究项目将使我们能够加速表观遗传疾病的诊断和治疗。

Epigenomics and epigenetics are the studies on how the activity of genes are controlled. The EpiGenRare node will coordinate research in epigenomics of rare diseases. This is important because >100 rare epigenetic diseases are known, and collectively they represent a large number of patients with rare dieases. Epigenetic diseases remain challenging to discover, diagnose, understand and treat. Furthermore, epigenomic studies that have the ability to study changes across all of the DNA in patients are important even for those rare diseases that are not traditionally seen as epigenetic diseases.This multi-disciplinary node team (investigators, partners and collaborators) includes experts in relevant disciplines, industry, and patient support groups and encompasses institutions across the UK and investigators at different career stages. Our team builds on substantial existing infrastructure, funding and track records that will enable us to tackle the challenges in the area.In our networking activities we will undertake a scoping survey to generate a list of individuals and institutions relevant for this field, and invite them to be members of EpiGenRare. Between years two and five, we will host two multi-disciplinary EpiGenRare conferences. Over the course of five years, we will arrange at least four EpiRare meetups on the side-lines of other scientific conferences. We will organise research or educational sessions at other conferences where epigenomics is relevant, but traditionally has not been a focus for those meetings. We will prioritise networking with other nodes in the Rare Disease Platform through brainstorming sessions. For co-ordination we will organise a virtual EpiGenRare (for investigators and partners) kick-off meeting followed by an Introductory EpiGenRare meeting (for all members). Thereafter, we will hold EpiGenRare Operational meetings every 4 months. Individual research project team meetings will be organised at appropriate frequencies, minimum once a month. We will also form the EpiGenRare Advisory Board (including scientific and clinical leaders, industry and patient and public representatives) that will meet annually.We propose three enabling projects: (1) To generate a resource linking patients' genomic and epigenomic data which can be used by other researchers. (2) To perform preliminary studies in animal models to test if similar treatment approach could be used for multiple epigenetic diseases that share clinical features and biological mechanisms. (3) Generate a resource of well studied human cell models for large scale drug testing in epigenetic diseases. Additionally, we have put in place ideas for future projects with our collaborators and several other nodes in the UK Rare Disease Platform. As part of our patient and public involvement (PPI) program we will build upon our existing relationships with various relevant patient-family support groups. Patient support groups will be part of the advisory board and will participate in driving the networking activities and the research and collaboration agenda. We will bring together several patient support groups at different stages of development. With patient support groups we will co-develop patient information resources, organise family education days and work together to develop evidence-based management guidelines for epigenetic disorders. In conclusion, the EpiGenRare node is timely and addresses several unmet needs and will help to enhance the performance of the UK Rare Disease Platform. Our networking activities and PPI program will lead to establishing a national collaborative multi-disciplinary network for epigenomics of rare diseases that would be an international reference on research in rare epigenetic disorders for clinicians, researchers, patient support groups and policy-leaders. Our current and future research projects will allow us to accelarate diagnosis and treatments for epigenetic disorders.