Author: Birte Zurek

Solve-RD aims to find a diagnosis for rare disease patients who did not get a molecular diagnosis so far. We will compare the potential of different -omics technologies regarding their contribution to solve the pathogenicity in different patient cohorts, reaching from neurodevelopmental to late onset diseases including diagnostic specialties like cancer. The clinical expertise of numerous European Reference Networks (ERNs) is integrated by clinically well selected patient cohorts. This FACT SHEET gives an overview of the four Solve-RD cohorts of rare disease patients which have been defined.

Invitation to attend the 2nd INFRAFRONTIER / IMPC Stakeholder Meeting: Advancing Rare Disease Research and Gene Therapy Applications with Animal Models

December 3rd-4th 2018, Hilton Park Hotel, Munich, Germany

Further information can be found here: Program details | Registration

The meeting is free of charge including accommodation, you just have to come to Munich.

The CNAG-CRG is looking for a Communications and Data Helpdesk Coordinator to join the Solve-RD H2020 project. Solve-RD aims to solve a large number of undiagnosed rare disease cases through combined Omics approaches, using the RD-Connect Genome-Phenome Analysis Platform (GPAP; platform.rd-connect.eu) as one of the key infrastructures. Main tasks for the candidate will be to provide a comprehensive professional support and external helpdesk service for the Solve-RD users of the RD-Connect platform, including, but not restricted to, registration, data submissions, data monitoring, assistance, training, communication, dissemination and reporting.

See job posting here.

Within the EU-H2020 Solve-RD project “Solving the unsolved Rare Diseases” a medical research assistant position is available in the team of Gisèle Bonne at the Centre of Research in Myology, Sorbonne Université-Inserm UMRS974, Institut de Myologie Groupe Hospitalier Pitié‐Salpêtrière, Paris, France.

The candidate will be in charge of setting up a database of currently known “treatable genes” and associated treatment strategies for Rare Diseases, i.e. Treatabolome, by literature review and data-mining approaches with curation by expert clinicians.

See job posting here.

The second edition of the EURORDIS Winter School on Scientific Innovation & Translational Research will take place from 11-15 March 2019 at the Imagine Institute in Paris.

This unique training, organised in partnership with Solve-RD, offers patient advocates the opportunity to deepen their understanding of how pre-clinical research translates into real benefits for rare disease patients.

If you are a patient advocate wanting to learn more about how research is carried out and how patients can influence research, apply for the EURORDIS Winter School 2019.

Find out more here. Application page can be found here. Deadline is 15 September 2018!

Genetic Alliance UK is now inviting applications to join the patient and public involvement group (PPI) to adise a Solve-RD study on how best to communicate genetic test results for rare diseases to families. The PPI group will advise the team to ensure views and needs of families are heard.

Find out more here. Deadline is 6 September 2018!

Solve-RD uses the Genome-Phenome Analysis Platform to analyse exome and genome sequencing data of rare disease patients. RD-Connect and ERN-EURO-NMD are organising a webinar to train ERN members how to use the platform:

• Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform (Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain)
• Thursday 6 September 2018, 15:00 CEST
• Register here

In this webinar, you will learn how to use the powerful and user-friendly analysis tools in the Platform to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community, and further afield, to find confirmatory cases for your candidate variants.

For more information and other webinars organised by RD-Connect check this document.

Solve-RD will re-analyse 19,000 exomes from undiagnosed rare disease patients. The first 219 datasets from ERN-ITHACA have now been submitted to the RD-Connect Genome-Phenome Analysis Platform.

GenomeWeb published an article on Solve-RD: “European Rare Disease Research Consortium Plans to Diagnose Patients With ‘Unsolvable’ Disorders.” Read the article here.

Watch the Solve-RD welcome message of Carlos Moedas, European Commissioner for Research, Science and Innovation here.