ELEGANT NORTH

Objectives: Rare diseases are life-threatening or severely debilitating and occur in fewer than 1 in 2,000 individuals. Although they are rare, about 7,000 rare diseases are known, including childhood cancer. Most rare diseases are caused by known mutations in the genetic material. However, two patients with exactly the same rare disease may have very different course of the disease due to numerous other variants in the genetic material. Despite a number of actions in the EU and in individual EAC countries, rare diseases have lagged behind developments in the treatment of major public diseases (e.g. cardiovascular disease, diabetes). In the Nordic countries, rare diseases cost healthcare billions of dollars and treatment is often without the desired effect, because there is a lack of knowledge about what is optimal for the individual patient. In order to achieve greater patient volume and better treatment in the EAC region, there is a need for (i) unambiguous frameworks and guidelines for transnational data management and (ii) the development of new bioinformatics methods that enable identification of the characteristics (clinical and genetic) that can predict the progress of the individual patient. Childhood cancer belongs to the group of rare diseases and is responsible for 20 % of deaths in children. Acute lymphoblastic leukemia (ALL) is the most common cancer in children. 15 % of patients die from their disease, and of those who survive, the majority have severe late consequences from treatment, which reduce patients’ quality of life. As with other rare diseases, research is challenged by insufficient data. The goal of ELEGANT NORTH (EN; Exploring Leukemia: Education Genetics and Technology; New Option for Rare Diseases Towards Health) is to create a new strategy for managing data on rare diseases, with ALL as a prototype, which could lead to more tailored treatment for the benefit of 1,000 patients with rare diseases. The objective is in line with the Interreg EACS strategy and will: — create an EAC cross-border generic platform for the sharing of data on rare diseases compatible with the GDPR and other rules for sensitive personal data; — strengthen cross-sectoral cooperation between healthcare and private companies for innovative technological solutions for personalised medicine in rare diseases; and — create new links between health and tech sciences and promote multidisciplinary education and research. Target groups: The primary target group is the hospital service in the Capital Region of Denmark, Region Skåne and Oslo Fylke, which will have a common data platform for sharing clinical and genetic data on rare diseases, which is both a practical script and a technological tool that promotes patient care. The data platform will provide healthcare with advanced technology that promotes digitisation, knowledge sharing and collaborative innovation across the Scandinavian countries. The secondary target group is the individual rare diseases, where in the development phase EN will focus on ALL as a prototype, and in the implementation and validation phase other rare diseases. In the long term, EN will strengthen the pharmaceutical industry by providing incentives for the development of new therapies. Method of collection: Guidelines for clinical data collection (Work Package 2 (AP2)) and analysis of millions of variants in the genetic material (AP4). Hospitals in three regions will collect clinical data and blood samples for genetic analysis from children with ALL and, in the second phase, other rare diseases. Storage and sharing: Focus on GDPR, national and EU legislation. RHS Legal Consultant, in collaboration with Plesner Advokatpartnerselskab (AP6) and EN’s Data Retention Working Group (AP3), will develop and implement the legal framework for EN. The objective is an accredited model for data sharing in rare diseases. Analysis: Focus on innovative analytical strategies. Partner Abzu, together with the other bioinformatical experts in the project (AP5), will develop new algorithms for data analysis.