Tag: rare disease

Solve-RD Public Symposium

Solve-RD Public Symposium

Public Symposium at the Solve-RD Final Meeting 2023: The Impact of Solve-RD on Research & Care of Rare Disease Patients

The Public Symposium is open to the entire human genetics and rare disease community in Europe and beyond. In addition to presentations on Solve-RD achievements, we are very happy to have two keynote speakers: Ines Thiele (University of Galway) will outline 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) will speak about “Hyperpersonalized therapies for the long tail of genetic disease”. The Public Symposium is going to conclude with a round table discussion on “The Future of Rare Disease Diagnostics in Europe”. A list of excellent panellists will discuss 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.

Date: Wednesday, 26 April 2023 from 8:30-12:30 CEST, online

Registration: https://us02web.zoom.us/webinar/register/WN_M1qQIxIhTwa37xFgwiAxJQ

Download the full programme here.

Download the symposium brochure here.

 

Programme:

Towards the future of rare disease diagnostics
08.30 AM - 10.15 AM | Chair: Ana Rath & Gulcin Gumus

  • Keynote lecture: Towards a personalised systems biomedical approach for the diagnosis of inherited metabolic diseases
    Ines Thiele, University of Galway
  • Keynote Lecture: Hyperpersonalized therapies for the long tail of genetic disease
    Timothy Yu, Boston Childrens Hospital & Harvard Medical School
  • Looking further: Patient organizations and advancing RD research on diagnosis
    Gulcin Gumus, Eurordis
  • SOLVE-RD 2.0
    Olaf Riess, University of Tübingen

 

Impact of Solve-RD on research & care of rare disease patients
10.45 AM - 12.30 PM | Chair: Han Brunner & Holm Graessner

  • Key SOLVE-RD achievements
    Holm Graessner, University of Tübingen
  • Genomics reanalysis of a pan-European rare disease  resource yields >500 new diagnoses
    Alex Hoischen, Radboud UMC & Sergi Beltran, CNAG-CRG
  • Round Table: The future of rare disease diagnostics in Europe
    Simona Bellagambi, Eurordis Board of Directors & Uniamo | Daria Julkowska, INSERM | Christina Kyriakopoulou, European Commission, DG Research & Innovation | Milan Macek, Charles University Prague | Olaf Riess, University of Tübingen | Lisenka Vissers, Radboud UMC | Timothy Yu, Boston Childrens Hospital & Harvard Medical School

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.