PhenomeCentral “matchmaking” portal launched on Rare Disease Day

28 February 2014

A new online system to match up patients with similar genotypes and phenotypes is being launched on Rare Disease Day. PhenomeCentral connects clinicians and scientists worldwide with others working on similar cases and thereby speeds up the discovery of genes responsible for rare disorders. Data in RD-Connect will also be “matchable” through PhenomeCentral.

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RD-Connect one year on

31 January 2014

The three linked projects funded by the European Commission as flagship “omics” research projects under the International Rare Diseases Research Consortium are now just over a year old. As they gear up for their annual joint meeting, RD-Connect, Neuromics and EURenOmics are also reflecting on their achievements in their first year of operation and planning their next steps. For RD-Connect, the primary focus of the year has been on ensuring that the project is aligned with the needs of researchers submitting data to the system, and on developing interoperability with tools and projects operating in the same area.

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

21 June 2013

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.

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

18 June 2013

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.

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Concerns raised over draft of EU data protection regulation

25 February 2013

A large group of patient organisations and research consortia involved in the rare disease field has today released a public statement expressing deep concern over a draft of the the proposed new legal framework for the protection of personal data in the EU, the so-called Data Protection Regulation. It is feared that if the regulation is passed by the European Parliament in the wording released on 16 January 2013 by Jan Philipp Albrecht (Greens/European Free Alliance, Germany), this could spell the end of progress in health research in Europe, in particular the end of research into rare diseases.

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Fighting Rare Diseases: 38 million EUR for rare disease research

24 January 2013

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale. The EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.

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