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Solve-RD webinars on the RD-Connect Genome-Phenome Analysis Platform

Solve-RD webinars on the RD-Connect Genome-Phenome Analysis Platform

Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. Phenotypic information (HPO-based) is being collected using PhenoTips. We are now organising two webinars to train clinicians, scientists and bioinformaticians on how to submit and analyse data using GPAP.
PhenoTips & data submission to GPAP
We will show how you can create PhenoTips entries and explain the different steps to submit your data to the RD-Connect Genome-Phenome Analysis Platform. There will be time to answer your questions.
  • Date: Wednesday, 16 January 2019, 12:00-13:00 CET
  • Trainer: Leslie Matalonga Borrell, Centro Nacional de Análisis Genómico, Barcelona, Spain
  • Registration: https://goo.gl/forms/DVKoqj3fiWOcHVpm1
Data analysis in GPAP
We will show how to use the RD-Connect Genome-Phenome Analysis Platform to analyse your data and explain the different functionalities and settings of the platform. There will be time to answer your questions.

Fact Sheet: Solve-RD cohorts

Fact Sheet: Solve-RD cohorts

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.

Infrafrontier / IMPC Stakeholder Meeting

Infrafrontier / IMPC Stakeholder Meeting

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.

Job offer: Communications and Data Helpdesk Coordinator

Job offer: Communications and Data Helpdesk Coordinator

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.

Job offer: Medical research assistant position available

Job offer: Medical research assistant position available

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.

EURORDIS Winter School 2019

EURORDIS Winter School 2019

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!

Recruitment of people for the patient and public involvement group (PPI)

Recruitment of people for the patient and public involvement group (PPI)

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!

Webinar on the RD-Connect Genome-Phenome Analysis Platform

Webinar on the RD-Connect Genome-Phenome Analysis Platform

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.