Recordings of ERN-RND Spring School 2024 online

If you missed a session of our Spring School “DBS in Dystonia” you can now watch it online. The following recordings are available:

New Publication on NGS for RND

Read now our newly published paper on “Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network” by Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L. Taylor, Malte Spielmann, Tobias B. Haack, Matthias Gerberding, Borut Peterlin & Holm Graessner in the European Journal of Human Genomics.

https://www.nature.com/articles/s41431-024-01639-2

Abstract

In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack of standardised technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To address this, the European Reference Network for Rare Neurological Diseases (ERN-RND) collaborated with the European Molecular Genetics Quality Network (EMQN) to establish an external quality assessment scheme for NGS-based diagnostics in RNDs. The scheme, initiated in 2021 with a pilot involving 29 labs and followed by a second round in 2022 with 42 labs, aimed to evaluate the performance of laboratories in genetic testing for RNDs. Each participating lab analysed genetic data from three hypothetical cases, assessing genotyping, interpretation, and clerical accuracy. Despite a majority of labs using exome or genome sequencing, there was considerable variability in gene content, sequencing quality, adherence to standards, and clinical guidance provision. Results showed that while most labs provided correct molecular diagnoses, there was significant variability in reporting technical quality, adherence to interpretation standards, reporting strategies, and clinical commentary. Notably, some labs returned results with the potential for adverse medical outcomes. This underscores the need for further harmonisation, guideline development, and external quality assessment in the evolving landscape of genomic diagnostics for RNDs. Overall, the experience with the scheme highlighted the generally good quality of participating labs but emphasised the imperative for ongoing improvement in data analysis, interpretation, and reporting to enhance patient safety.

Annual Meeting 2024

We are happy to announce that the ERN-RND Annual Meeting 2024 will be held in Ljubljana, Slovenia, on 10-11 October 2024. We expect one representative of each HCP to be present in Ljubljana. Additionally, online participation will be open to as many colleagues from ERN-RND as possible.

ERN-RND Spring School 2024

Our 5th Winter School will be a Spring School this year and will focus on Deep Brain Stimulation in Dystonia. It will be held online from April 17 to 19, 2024.

The registration is not open yet, but you can already have a peek at the Preliminary Programme:

17 April 2024   I   Indications and Diagnosis

  • Isolated Dystonia (inherited, idiopathic)
  • Infancy Dystonia
  • Combined Dystonia
  • Botulinum toxin: opportunities & limitations
  • Drug therapy and neurorehabilitation: opportunities & limitations

18 April 2024   I   How to do DBS/ Neurosurgery

  • Neurosurgery aspects of DBS in Dystonia (including alternative targets (STN, VOA, VIM))
  • Specific aspects of DBS in paediatric Dystonia
  • MER and LFP-signals for implantation and programming in Dystonia patients
  • Neuroimaging for implantation and programming in Dystonia patients

19 April 2024   I   Troubleshooting and Cases

  • Strategies of DBS troubleshooting in Dystonia
  • Dystonic crisis/ reactions
  • Case presentations

For further information please contact Christine Diaite-Hecht.