Thursday & Friday, 22 & 23 September 2022, location: tbd
Solve-RD Annual Meeting 2022
Thu, 19 May 2022, 14:00 – 15:30 CEST, online
Racing against time: Seeking the cure for a deadly disease
Ten years ago, Harvard Law School student Sonia Vallabh’s world was turned upside down when her mother’s health rapidly deteriorated after initial complaints of trouble with her vision. Descending quickly into dementia, pneumonia, and disability, it was not until after the death of Sonia’s mother that a diagnosis for prion disease was confirmed. But the nightmare did not stop there — Sonia soon found out that she, too, had inherited the deadly disease.
We are very grateful that Sonia Vallabh and Eric Minikel accepted the invitation to give the keynote lecture at our Solve-RD Annual Meeting 2022! It was impressive to hear their story and to feel their determination to find a treatment for Sonia’s disease.
Prior to the meeting we have invited Sonia to share her thoughts on the future of rare disease research, as well as her own race against time to come up with a life-saving treatment. Read the full interview here.
We would like to inform you that Sonia and Eric helped to launch a prion disease registry at PrionRegistry.org. This is a tool to help recruit for clinical research and also someday, clinical trials. In the meantime, numbers from the registry help to convince partners across sectors that even though this is a rare disease, they are well organised and capable of running rigorous clinical trials. So, by signing up, patients and families help to convince the world that this disease is worth working on!
Job opportunity: Research Associate in Neurobiology/Mitochondrial Biology
Solve-RD associated partner Rita Horvath lab at the University of Cambridge, UK is lookig for a Research Associate in Neurobiology/Mitochondrial Biology (Fixed Term) to identify how mitochondrial function is affected and which substrates and pathways are commonly and differently impaired in selected cell types of patients with mitochondrial diseases.
More info can be found here. Application deadline is 10 May 2022!
25-26 April 2022, fully online Continue reading “Solve-RD Annual Meeting 2022”
Solve-RD workshop: Navigating the Sandbox
Solve-RD WP4 is organising a workshop on how to navigate the Sandbox.
Date & Time: Thursday, 19 May 2022, 14:00 - 15:30 CEST
This combined webinar & workshop will provide an update on Solve-RD Sandbox services/functions, and also consider future plans, needs and possibilities. Intended participants include ERN data controllers/producers (to ensure that their data is being managed in ways they are happy with) and DITF members (to ensure they have services they need now and going forward).
To begin, the current status of the Sandbox will be presented, including its RD3 metadata layer and the Discovery-Nexus support capabilities. Via these components, users can find, filter, and access cases and related data and results. The system will be demonstrated for some example use cases. The meeting will then transition into a workshop activity, to gather reflections from participants, and propose improvements for the future. This will encompass possibilities within and beyond Solve-RD, including multi-omic data analyses and the ambition of federating services with those of EJP-RD and GPAP.
- Overview (Presenter: Joeri van der Velde, UMC Groningen & Anthony Brookes, University of Leicester) | 40 minutes
- Sandbox design and utility
- RD3 metadata database
- Discovery-Nexus capabilities
- Demo: Finding cases/data and creating cohorts (Presenter: Colin Veal, University of Leicester & Joeri van der Velde, UMC Groningen) | 20 minutes
- Discussion (Chair: Morris Swertz, UMC Groningen) | 30 minutes
- Bidirectional Q+A regarding unmet needs and system improvements
- Proposal for federation with GPAP, EJP-VP, 1+MG, Beacon, etc.
Solve-RD Annual Meeting 2022: registration now open!
The Solve-RD Annual Meeting 2022 will take place on Monday and Tuesday, 25 & 26 April. Due to the current situation it will again be fully online.
All Solve-RD beneficiaries, associated partners and collaborators are invited to register for the meeting. The registration is open until 18 April via this link.
Further information can be found here.
Thu, 24 February 2022, 4-5pm CET, ERN Euro-NMD webinar Continue reading “Webinar: Targeted Therapies for Leigh Syndrome, Systematic Review and Steps Towards a “Treatabolome””
Solve-RD GPAP webinars on YouTube
Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. In October 2021 we organised two webinars: one on basic analysis using GPAP and the other on advanced platform features. Both webinars are now online:
Solve RD webinar on basic analysis using the RD-Connect Genome-Phenome Analysis Platform (GPAP) given by Steven Laurie (CNAG-CRG) on 6 Oct 2021
Solve RD webinar on advanced features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) given by Leslie Matalonga (CNAG-CRG) on 19 Oct 2021