Author: Birte Zurek

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.

RDMM-Europe project published!

RDMM-Europe project published!

Stefan Barakat and Tjakko van Ham at Erasmus University Medical Center in Rotterdam have received a Seeding Grant via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) program in May 2022. The funding supported their work to confirm pathogenicity of AMFR dysfunction causing autosomal recessive spastic paraplegia (HSP) by using zebrafish models. AMFR was proposed for functional validation within the RDMM programme by Solve-RD partners Reza Maroofian and Henry Houlden at the UCL Queen Square Institute of Neurology. They have initially identified a homozygous frameshift mutation of AMFR within a shared RoH region in two affected siblings suffering from Hereditary Spastic Paraplegia (HSP). By international collaborations and data sharing similar biallelic loss of function mutations of the same gene were found in a total of 20 affected individuals from 8 consanguineous families.

The collaborative work was now accepted for publication in Acta Neuropathologica.

Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk et al. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol (2023). https://doi.org/10.1007/s00401-023-02579-9

RDMM-Europe project published!

RDMM-Europe project published!

Solve-RD partners Antonio Vitobello from the University Hospital Dijon-Bourgogne and Elke Bogaert & Bart Dermaut from Ghent University in Belgium were connected by our European Rare Disease Models & Mechanisms Network (RDMM-Europe) initiative. They received Seeding Grant funding to generate Drosophila models that support the validation of new SRSF1 variants identified in a cohort of patients with syndromic developmental disorder associated with intellectual disability. Their findings have now been accepted for publication in The American Journal of Human Genetics.

Elke Bogaert, Aurore Garde, Thierry Gautier et al. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. The American Journal of Human Genetics (2023). https://doi.org/10.1016/j.ajhg.2023.03.016

Solve-RD GPAP Webinar on YouTube

Solve-RD GPAP Webinar on YouTube

The Solve-RD webinar on the new graphical user interface of the RD-Connect Genome-Phenome Analysis Platform (GPAP)  given by Leslie Matalonga (CNAG-CRG) on 12 April 2023 is now available online via this link!

The webinar focuses on how to navigate through the platform and use some of the advanced new functionalities to (re)analyse cases, including cohort level analysis and the use of Matchmaker Exchange.

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

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.