Author: Birte Zurek

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

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

On Thursday, 20 June 2024, Solve-RD organized a webinar “Solve-RD industry workshop: Strategies for omics data analysis & reanalysis”. The aim was to present participants from industry the strategies we developed for Solve-RD for omics data analysis and reanalysis, and to discuss challenges, advantages as well as future developments.

The recording has been uploaded to our Solve-RD YouTube channel and is available via this link.

New Publication: Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

New Publication: Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

The European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established within Solve-RD. RDMM-Europe is a brokerage service to promote fruitful collaborations between clinicians and model organism experts with the aim of filling the gap between RD gene discovery and functional validation of potentially new disease genes and/or novel disease mechanisms.

In our article we describe the network and infrastructure that we have successfully implemented to support the use of model organisms in rare disease research, we share our processes and highlight several examples of modeling approaches that clearly illustrate the benefit and need of functional validation in model organisms to accelerate the assessment of new disease-gene associations. The article also showcases the main objectives of the funded projects, highlights examples of validation projects in different models and provides links to recent publications related to some of these projects.

The article has now been accepted for publication in Lab Animal: Kornelia Ellwanger, Julie A. Brill [...] Olaf Riess. Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab Anim (NY). 2024 Jun 24. https://doi.org/10.1038/s41684-024-01395-2. Epub ahead of print.

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 - Sergi Beltran (CNAG, Barcelona, Spain)
  3. Solvathon concept - Holm Graessner (Uni Tübingen, Germany)

    • Example from RNAseq & multi-omics Solvathon - Vicente Yepez (TU Munich, Germany) & Anna Esteve (CNAG, Barcelona, Spain)
    • Example from long-read sequencing &  Optical Genome Mapping Solvathon - Alexander Hoischen (RadboudUMC, Nijmegen, the Netherlands)
  4. Q & A
  5. Perspective - Holm Graessner (Uni Tübingen, Germany)

RDMM-Europe project published!

RDMM-Europe project published!

Solve-RD partner Laurence Faivre from CHU Dijon and colleagues from CHU Rouen, France identified 5 patients with a recurrent de novo variant p.(Arg126Gln) in FEM1B and a neurodevelopmental disorder associated with a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities.

The RDMM-Europe Seeding Grant awarded to Ype Elgersma at Erasmus University Medical Center in Rotterdam helped to assess the pathogenicity of this rare genetic variant. The project involved expression of the mutant form in developing mouse embryos and in primary neuronal cultures and demonstrated the toxicity of FEM1BR126Q variant compared to FEM1B.

The collaborative work was now accepted for publication in Genetics in Medicine:

François Lecoquierre, […] Laurence Faivre, Ype Elgersma, Antonio Vitobello. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genetics in Medicine, Volume 26, Issue 6, 2024, 101119, ISSN 1098-3600, https://doi.org/10.1016/j.gim.2024.101119

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.