Solve-RD industry workshop

Solve-RD industry workshop: Strategies for omics data analysis & reanalysis

Date: Thursday, 20 June 2024, 12:00-13:30 CEST | online

Aim: The strategies we developed for Solve-RD for omics data analysis and reanalysis will be presented. We will discuss challenges, advantages as well as future developments.

Participants: Representatives from industry

Agenda:

  1. Welcome
  2. Data reanalysis approach - Steven Laurie (CNAG, Barcelona, Spain)
  3. Solvathon concept - Holm Graessner (Uni Tübingen, Germany)

    • Long-read genome sequencing (LR-WGS) - Christian Gilissen (RadboudUMC, Nijmegen, the Netherlands)
    • Optical Genome Mapping (OGM) - Alexander Hoischen (RadboudUMC, Nijmegen, the Netherlands)
    • RNAseq - Vicente Yepez (TU Munich, Germany) & Anna Esteve (CNAG, Barcelona, Spain)
    • Epigenomics - Julia Schulze-Hentrich (Uni Saarbrücken, Germany)
  4. Q & A
  5. Perspective - Holm Graessner (Uni Tübingen, Germany)

Registration link: https://forms.gle/Gi91dKa98AzHQLQ1A

Deadline for registration: 20 June 2024, 11:00 CEST.

Solve-RD Solvathon on multi-omics analysis

Solve-RD Solvathon on multi-omics analysis

Solve-RD Solvathon on multi-omics analysis (with focus on RNAseq and Epigenetics data integration)

Wed-Fri, 6-8 March 2024 in Barcelona, Spain.

Goal: 3 days hands-on course to instruct ERNs how to analyse and interpret the different results derived from Epigenetics analysis and RNAseq, in combination with variants from DNA, with the aim of diagnosing cases.

Participants: Representatives from the Epigenetics and RNAseq working groups, representatives from ERNs/Solve-RD partners who contributed samples and are involved in the analysis/interpretation.

Proposed agenda:

Wednesday, 6 March 2024
9-13 theory session
13-17 hands on work and interpretation

Thursday, 7 March 2024
9-11 theory / findings and questions from day 1
11-17 hands on work and interpretation

Friday, 8 March 2024
9-11 hands on / preparation of presentations on interesting findings and solved cases
11-13 solved cases presentation and wrap up
13 end /departure

Registration link: https://docs.google.com/forms/d/e/1FAIpQLSeYH6avlkgTmbNLcgUtwMBVU7HehWWDMX1FG-rfOX-bYgv8gA/viewform?usp=sf_link

Deadline for registration: 10 January 2024.

Please note: on-site participants will be selected based on the number of submitted samples and data to analyse. You will hear back from us by 15 January 2024.

We plan to enable online participation for the theory sessions and will share the presentations and recordings to provide resources and guidance for Solve-RD partners that cannot attend live.

Solve-RD Solvathon on LR-WGS and optical genome mapping (OGM) analysis

Solve-RD Solvathon on LR-WGS and optical genome mapping (OGM) analysis

Mon-Wed, 19-21 February 2024 in Nijmegen, the Netherlands.

Goal: 3 days hands-on course to instruct ERNs how to analyse and interpret the different results derived from LR-WGS and optical genome mapping (OGM), with the aim of diagnosing cases.

Participants: Representatives from the LR-WGS and OGM working groups, representatives from ERNs/Solve-RD partners who contributed samples and are involved in the analysis/interpretation.

Proposed agenda:

Monday, 19 Feb 2024
9-11 theory session (LRS)
11-17 hands on work and interpretation (LRS)

Tuesday, 20 Feb 2024
9-11 theory session (OGM)
11-17 hands on work and interpretation (OGM+LRS)

Wednesday, 21 Feb 2024
9-11 hands on work and interpretation (OGM+LRS)
11-12:30 solved cases presentation and closing remarks
12:30 end /departure

Registration link: https://docs.google.com/forms/d/e/1FAIpQLSdWe7VwUbBOltf1Ej2st505C8Wq3Jinjc8uxodlWrGj2Qnj8Q/viewform?usp=sf_link

Deadline for registration: 10 January 2024.

Please note: on-site participants will be selected based on the number of submitted samples and data to analyse. You will hear back from us by 15 January 2024.

We plan to enable online participation for the theory sessions and will share the presentations and recordings to provide resources and guidance for Solve-RD partners that cannot attend live.

Solvathon

Solvathon

Solve-RD is organizing three “Solvathons” - data analysis and interpretation workshops on different topics in the remaining time of the project.

See below the information on the different workshops and please save the dates and register if you are interested to participate.

 

Solvathon on SR-WGS analysis (online): 6-8 November 2023

Goal: Instruct Solve-RD partners of all ERNs on how to analyze and interpret the results derived from WGS experiments by the DATF working groups with the aim of diagnosing cases.

Analysis cohort:  1,885 novel SR-WGS experiments representing 866 RD families and 1,590 WGS experiments (submitted for re-analysis) representing 764 families.

Audience: All Solve-RD partners that have contributed WGS data or samples for SR-WGS.

Further details (agenda, exact timetable, calendar invite and connection info) will be shared in due time. We plan to have sessions covering only half days in the above timeframe and people are not expected to attend all sessions.

Please get registered and save the date in your calendar!

 

Solvathon on LR-WGS and OGM analysis (in Nijmegen, the Netherlands): 19-21 February 2024

 Goal: Instruct Solve-RD partners of all ERNs on how to analyze and interpret the results derived from LR-WGS and Optical Genome Mapping (OGM) with the aim of diagnosing cases.

Analysis cohort:  All Solve-RD LR-WGS experiments and OGM experiments analyzed by the above mentioned date.

Audience: All Solve-RD partners that have contributed samples for LR-WGS and/or OGM. The number of on-site participants is limited and we might have to select participants based on the number of experiments for interpretation. We will facilitate online participation that is open for all interested Solve-RD participants at least for the theoretical part.

Further details (agenda, timelines and pre-registration form) will be shared in due time.  Please save the date in your calendar!

 

Solvathon on multi-omics (in Barcelona, Spain): 6-8 March 2024

Goal: Instruct Solve-RD partners of all ERNs on how to integrate and interpret results derived from multi-omics experiments with the aim of diagnosing cases.

Analysis cohort:  All Solve-RD cases with multi-omics experiments.

Audience: All Solve-RD partners that have submitted patients samples analysed by different combined -omics technologies. The number of on-site participants is limited and we might have to select participants based on the number of experiments for interpretation. We will facilitate online participation that is open for all interested Solve-RD participants at least for the theoretical part.

Further details (agenda, timelines, pre-registration form) will be shared in due time. Please save the date in your calendar!

Time to Act – Improving rare disease diagnosis and solving the unsolved rare disease through collaboration in europe

 

 

TIME TO ACT – IMPROVING RARE DISEASE DIAGNOSIS AND SOLVING THE UNSOLVED RARE DISEASE THROUGH COLLABORATION IN EUROPE

The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in the RD field, as well as the rare disease community at large to act NOW to seize the current once-in-a-generation opportunity to significantly improve rare disease diagnosis in Europe.

This unique opportunity is characterized by pan-European access to diagnostic technologies in particular Whole Exome Sequencing, the just reached maturity of the European Refence Networks ecosystem, the looming opportunity to share rare disease data on European-wide scale within the forthcoming European Health Data Space, the upcoming RD-Partnership as well as - with Solve-RD - the availability of a scalable transnational diagnostics research platform.

Solve-RD has summarized the critical action points in this Policy Paper.

We call upon all European rare disease stakeholders to partner to jointly improve rare disease diagnosis!

Solve-RD Final Meeting 2023

Solve-RD Final Meeting 2023

From 24-26 April 2023 125 participants met in Prague,CZ for the final Solve-RD meeting. Additional 110+ attendees joined online. It was great to see everyone in person again!

PRESENTATION AWARDS
Three awards have been given for the best full talk, the best flash talk and the best poster presentation:

Best full talk:
Elke Bogaert
Ghent University

 

 

Best flash talk:
Jonathan De Winter
University of Antwerp

 

 

Best poster presentation:
Nika Schuermans
Ghent University

 

 

PUBLIC SYMPOSIUM
On 26 April, a Public Symposium "The Impact of Solve-RD on Research & Care of Rare Disease Patients" has been attended by additional online participants from the human genetics and rare disease community in Europe and beyond. We were happy to hear two keynote lectures by  Ines Thiele (University of Galway) outlining the way “Towards a personalised systems biomedical approach for the diagnosis of inherited metabolic diseases” and Timothy Yu (Boston Childrens Hospital and Harvard Medical School) on “Hyperpersonalized therapies for the long tail of genetic disease”. After different presentations on the achievemtns of Solve-RD and what we expect for the future, the Public Symposium concluded with a round table discussion on “The Future of Rare Disease Diagnostics in Europe”. A list of excellent panellists discussed what needs to change in rare disease diagnostics, the challenges and bottlenecks to take the next steps as well as concrete solutions on national, local, European and global level.

The Public Symposium has been recorded and is available on our Solve-RD YouTube channel.