ECRD: RD-Connect pre-conference tutorial

RD-CONNECT (an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research)

Tutorial Instructors

Lucia Monaco, Chief Scientific Officer, Fondazione Telethon, Italy
Peter Robinson, Professor of Medical Genomics, Institute of Medical and Human Genetics, Charité, Universitatsmedizin Berlin, Germany

Description

Despite many examples of excellent practice, rare disease research is still mainly fragmented by data type and by disease. Individual efforts have little interoperability and almost no systematic connection of detailed clinical information with genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Connect will develop a critical mass for harmonisation and provide a strong impetus for a global “trial-ready” infrastructure ready to support the IRDiRC goals for diagnostics and therapies for rare disease. During this tutorial, participants will gain a greater appreciation of the aims and objectives of RD-Connect and how different user groups e.g. patients/patient representatives, researchers and industry can best utilise the platform. Specifically, we will discuss topics such as the integration of bioinformatics tools, registries and biobanks into the platform, and also the legal, ethical and regulatory issues that need to be considered.

Learning Objectives

1. Gain a greater understanding of the aims and objectives of the RD-Connect platform.
2. Learn how the RD-Connect platform can be utilised by different groups of individuals e.g

• How to set up and manage a registry or a biobank for a disease
• How to utilise RD-Connect to study rare disease biospecimen
• How to utilise RD-Connect to plan a rare disease trial
• How to analyse exomes for rare disease diagnostics and novel gene discovery

Target Audience

This tutorial will be of interest to all those working in the rare disease field who would like to learn more about the RD-Connect platform, including clinicians, researchers, patient advocacy groups and industry.

Registration

Please register for this tutorial here