News

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.