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RD-Connect GPAP webinar

RD-Connect GPAP webinar

Solve-RD will host a webinar in April to showcase the completely new graphical user interface of the RD-Connect Genome-Phenome Analysis Platform (GPAP) that will be released on the 22th of March. The webinar will focus on how to navigate through the platform and use some of the advanced new functionalities to (re)analyse your Solve-RD cases, including cohort level analysis and the use of Matchmaker Exchange.

Time: Wednesday, 12 April 2023; 1-2 pm CEST

Speaker: Leslie Matalonga, Steven Laurie & Sergi Beltran (CNAG-CRG)

Registration: https://us02web.zoom.us/webinar/register/WN_c73ZGHCzSLizuN0l6Wsreg

Audience: All Solve-RD partners interested in analysing phenotypic and genomic data from the project. No prior experience analysing (filtering and prioritising) genomic data through the GPAP is required. Users will learn how to navigate through the new interface to filter and prioritise variants using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (PanelApp, OMIM, ORDO, HPO, Reactome). They will also learn how to easily interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser and Varsome to prioritise results. Furthermore, users will also learn how to use advanced features included in the system such as identifying other similar cases both internally, and around the world through the Matchmaker Exchange network and perform cohort level analyses.

Seeding Grant project received follow-up funding

Seeding Grant project received follow-up funding

Solve-RD Seeding Grant recipient Michela Ori successfully received competitive grant from the Telethon Foundation (Italy)

Michela Ori and her group at the Department of Biology, University of Pisa, Italy have received Seeding Grant funding via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) program in August 2020.

Based on preliminary data obtained with the Solve-RD Seeding Grant, Michela's lab has successfully applied for a competitive grant from the Italian Telethon Foundation. The project with the title "Modeling Pitt-Hopkins syndrome and new pathogenetic variants of TCF4 by gene editing: a step forward toward personalized medicine (acronim: HOPeFOR)" started in March 2023.

Solve-RD partner Antonio Vitobello from CHU Dijon who initially identified those novel gene variants in patients with facial dysmorphism and who was matched to Michela Ori's group via RDMM-Europe will be a collaborator in this project.

More info (in Italian) here.

 

New publication: reanalysis of 1,522 index cases from ERN-ITHACA

New publication: reanalysis of 1,522 index cases from ERN-ITHACA

Anne-Sophie Denommé-Pichon from CHU Dijon and colleagues from Solve-RD & ERN-ITHACA published "A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing." in Genetics in Medicine.

Within the Solve-RD project, the ERN-ITHACA aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. In their recent paper they present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses and lessons learned.

Data from the first 3,576 exomes (1,522 probands and 2,054 relatives) collected from ERN-ITHACA was reanalyzed by the Solve-RD consortium by evaluating for the presence of SNV/indel already reported as (likely) pathogenic in ClinVar. Variants were filtered on frequency, genotype and mode of inheritance and reinterpreted.

They identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance or high frequency).

Anne-Sophie and colleagues conclude that the “ClinVar low-hanging fruit” analysis represents an effective, fast and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.

First RDMM Seeding Grant project received follow-up funding

First Seeding Grant project received follow-up funding

Solve-RD Seeding Grant recipient Alessandro Sessa successfully obtained a competitive grant from the Telethon/CARIPLO alliance in Italy.

Alessandro Sessa and his group at the IRCCS Ospedale San Raffaele, Milano, Italy have received Seeding Grant funding in April 2021 to validate rare missense variants identified by Siddharth Banka at the Manchester Centre for Genomic Medicine, UK. Based on preliminary data generated with the Solve-RD funding Alessandro Sessa successfully applied for a competitive grant from the Telethon/CARIPLO alliance (Italy) to continue the analysis (250.000€/2 years). The call (the first of its kind) was in support of basic research projects focusing on the study of genes/gene families, proteins, and RNA molecules whose function is unknown in rare diseases of genetic and non-genetic origin.

Holm Graessner receives the EURORDIS European Rare Disease Leadership Award 2023

Holm Graessner receives the EURORDIS European Rare Disease Leadership Award 2023

Holm Graessner receives the EURORDIS European Rare Disease Leadership Award 2023!

This is really a great honour, not just for me but for my team and the people I collaborate with. The dominating feeling is appreciation and gratefulness to the people I am privileged to work with in the area of rare diseases. And there are many nice and fit persons I collaborate with.

This is how Holm Graessner describes his surprise and joy about the award.

Since 2012, EURORDIS-Rare Diseases Europe has organized the Black Pearl Awards. Goal of the event is to recognise the major achievements and outstanding commitment of patient advocates, patient organisations, policymakers, scientists, companies, and media who strive to make a difference for the rare disease community.

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Solve-RD Treatabolome Webinar on YouTube

Solve-RD Treatabolome Webinar on YouTube

Solve RD Treatabolome webinar  given by Leslie Matalonga (CNAG-CRG) on 18 November 2022 is now available online!

The Treatabolome DB provides information on gene and variant-specific treatments for rare diseases. Currently, it includes up to 180 treatments associated with more than 1000 distinct variants - mainly for neuromuscular disorders.

In this webinar,we

  • provided an overview on the Treatabolome DB,
  • explained how to use the information,
  • showed how to find a treatment for a specific genetic disease and
  • showed how new data is being included and how you can contribute.

First RDMM-Europe project published

First RDMM-Europe project published

Solve-RD partners Ana Töpf and Volker Straub (John Walton Muscular Dystrophy Research Centre), together with Conrad Weihl and collaborators (Department of Neurology, Washington University School) have published their joint project in Acta Neuropathologica: "Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure". Conrad Weihl was one of the first scientists that received Seeding Grant funding from Solve-RD within the European Rare Disease Models & Mechanisms Network (RDMM-Europe) to validate a novel disease-causing gene identified by Ana Töpf and Volker Straub.

Weihl, C.C., Töpf, A., Bengoechea, R. et al. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta Neuropathol (2022). https://doi.org/10.1007/s00401-022-02510-8.