WG2 Research

UK

Wright

Michael

Newcastle upon Tyne Hospitals NHS Foundation Trust michael.wright@nuth.nhs.uk

Belgium

Mortier

Geert

Antwerp University Hospital geert.mortier@uantwerpen.be

 

Objectives

To promote good quality and safe care to patients suffering from Rare Diseases (RD), To promote collaborative research within the ERN, To reinforce research and epidemiological surveillance, through setting up of shared biobanks and registries.

The identification, as a baseline, of the evidence for the existing approaches to management of rare bone diseases.

The identification of priorities, according to strengths and weaknesses, for the implementation of actions, in accordance with ERN BOND Work Plan.

WG2 REASEARCH will implement the five-year-research plan developed in Year 1. The implementation plan will act on the following research areas:

  1. The epidemiological characterization of RD
  2. Functional studies to establish disease-specific pathogenetic mechanisms.
  3. Characterization of the genetics and epigenetics of RDs
  4. Facilitate the development of clinical trials in this field with particular focus on appropriate clinical end points.
  5. Standardize protocols of evaluation and intervention decreasing heterogeneity in diagnosis and treatment.

The 5 areas of research investigations we will focus on are:

  1. The epidemiological characterization of RD disorders (epidemiological surveillance plan: agree standards of epidemiological surveillance and develop collaborative surveillance across ERN members).
  2. Functional studies to establish disease-specific pathogenetic mechanisms.
  3. Characterization of the genetics and epigenetics of RD through NGS models, allowing validation at a population level.
  4. Facilitate the development of clinical trials in this field with particular focus on appropriate clinical end points.
  5. Standardize protocols of evaluation and intervention decreasing heterogeneity in diagnosis and treatment.

WG2 will aim to implement the five-year research plan in 5 areas of investigation, including the production of epidemiological surveillance plan, and to collaborate with the other relevant WGs in the development of multidisciplinary knowledge and expertise plan for clinical care of patients with rare disease.