25 June 2013   ●   Issue 1

About RD-Connect


Welcome to our first newsletter.

RD-Connect is a global infrastructure linking up data from rare disease research projects in a central resource for researchers across the world. It is developing an integrated platform in which omics data will be combined with clinical phenotype information and biomaterial availability, accessible online and analysable with advanced bioinformatics tools. By developing robust mechanisms and standards for linking and exploiting existing data and research results as well as data generated in new research projects, RD-Connect will support rare disease research worldwide, in particular research funded under the International Rare Diseases Research Consortium (IRDiRC).

Read more online.

Working together on open standards and interoperability: RD-Connect joins Global Alliance for sharing genomic and clinical data

Working together on open standards and interoperability: RD-Connect joins Global Alliance for sharing genomic and clinical data

RD-Connect has joined over 70 institutions across the world in signing up to the Global Alliance, a new initiative to encourage sharing of linked genetic and clinical data. Inspired by the examples of the World Wide Web Consortium and the Human Genome Project, the Alliance aims to accelerate progress in medicine by encouraging widespread access to research data. Its goal is to bring together the research, clinical, and disease advocacy communities and the private sector to create an information platform that is open and accessible and provides common standards, formats and tools to stakeholders in the genomic research community. The goals of the Alliance are very much in line with those of RD-Connect, which has specific tasks dedicated to data sharing infrastructure, bioinformatics tool development, ethics, patient engagement, informed consent and the regulatory environment.

Read more online.

Enabling data sharing: two publications highlight ethical and legal questions to be addressed

Enabling data sharing: two publications highlight ethical and legal questions to be addressed

The rare disease community is currently debating the ongoing reform of the EU Data Protection Regulation and other topical questions relating to consent and privacy safeguards in medical research. In light of this, two short articles by RD-Connect partners have been published. These discuss the importance of maintaining the exception for research data in the data protection regulation, and propose a simplified, risk-based ethical review procedure. These recommendations would enable the continuation of data sharing and make the ethical process for information-based research more straightforward.

Read more online.

RD-Connect on Twitter

RD-Connect on Twitter

Social media is a divisive subject! But we have to confess that several of us in the RD-Connect coordination office quite like Twitter. A lot of academics and rare disease organisations tweet, and it can be a great way of getting timely access to relevant news, links, information and new publications.

For RD-Connect news, follow our main account @ConnectRD. A number of people associated with RD-Connect also tweet, and you can find a list here.

(Those who aren't yet convinced by Twitter can find Dorothy Bishop's excellent introduction to "Twitter for the apprehensive academic" here.)

Read more online.

Save the date for the next joint meeting!

RD-Connect, EURenOmics and Neuromics are holding their next joint meeting in Heidelberg, Germany, from 24 to 26 February 2014. All project partners and advisory board members are invited to save this date in their diaries now.

A cross-project programme committee has been established to define an exciting agenda with a strong scientific focus, including plenary, breakout and poster sessions, sessions for early stage researchers, and many opportunities for interaction. For further information, contact Emma Heslop.

Find out more about Neuromics and EURenOmics

RD-Connect is set up to accept research data from other projects funded under the IRDiRC banner. Two major rare disease omics research projects, EURenOmics and Neuromics, were funded by the EU under the same call as RD-Connect, while other projects funded by national and international funders are also coming online.


Using sophisticated -omics technologies, Neuromics will improve diagnosis and develop new treatments for ten major neurodegenerative and neuromuscular diseases affecting the brain and spinal cord, peripheral nerves and muscle. Neurodegenerative and neuromuscular diseases form one of the most frequent groups of rare diseases, affecting the life and mobility of over 500,000 patients in Europe and millions of their caregivers, family members and employers. The Neuromics project aims to identify new causative genes, modifiers, biomarkers and therapeutic strategies. Neuromics published their first newsletter in April 2013. 

Read the Neuromics newsletter online.

Visit the Neuromics website.


EURenOmics focuses on rare kidney diseases. It aims to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments, and develop new and better therapies. The project's research efforts are focused steroid resistant nephrotic syndrome, membranous nephropathy, tubulopathies, complement disorders such as haemolytic uraemic syndrome, and congenital kidney malformations. It will utilize a wide array of high-throughput technologies to find new genes causing or predisposing to kidney diseases, characterize molecular signatures unique to individual disease entities, identify prognostic biomarkers, and screen for potential drug candidates. 

Visit the EURenOmics website.

First data-sharing and bioinformatics jamboree to take place in Barcelona from 8-10 July 2013

Ivo Gut and Christophe Béroud (leaders of the RD-Connect activities on the integrated platform and bioinformatics tools respectively) are organizing the first in a series of interactive technical workshops in Barcelona next month. 30 invited experts from RD-Connect, Neuromics, EURenOmics and additional IRDiRC projects will establish the mechanisms for the sharing of data between the projects and the tools to be integrated into the central platform. Specific "use cases" have been gathered from the investigators who will make use of the central system, and the workshop will focus on discussion of these use cases and establishing how to meet the investigators' needs. There will be a strong emphasis on interoperability of systems as well as on mechanisms to incorporate legacy data, information from biobanks and patient registries, and omics data other than genomic data. 

IRDiRC news

The International Rare Diseases Research Consortium (IRDiRC) is a global grouping of medical research funders, charities and pharma who have come together as a consortium to foster international collaboration and accelerate progress in rare disease research. Its goals are to deliver 200 new therapies for rare diseases and the means to diagnose most rare diseases by the year 2020. RD-Connect is one of the EU's first projects to be funded under the IRDiRC banner.

Aided by its three scientific committees who provided expert input, the 33 member organisations who form the IRDiRC Executive Committee recently ratified a set of policies that all projects funded under IRDiRC must adhere to. These policies include important principles regarding timely publication of research results, a commitment to collaborative research, data sharing and interoperability, and to the integral involvement of patients. The full policy document has just been published.

Read the IRDiRC policy document online.

IRDiRC's conference in Dublin in April 2013 was one of the largest events devoted exclusively to research in rare diseases. Attended by over 400 rare disease stakeholders from around the world, the conference focused on opportunities and challenges for international collaboration in rare disease research, with three parallel sessions on Therapies, Diagnostics, and Interdisciplinary Approaches demonstrating the breadth of the field. The full conference report has just been published.

Read the full IRDiRC conference report online.



Our online events listing details events organized by RD-Connect as well as selected relevant external events. If you wish to add an event to the online listing, please contact Rachel Thompson.

View the events listing online.

Why did I get this email?

You received this email because you are associated with RD-Connect, EURenOmics or Neuromics or because you signed up online. We will send out around one email per month with news of relevance to these projects and to IRDiRC. If you don't want to receive any further newsletters, you can unsubscribe using the link below. If you're reading this online or if it was forwarded by a friend, you can sign up to future editions here.