December 10, 2024 at 10:30 am US EST
N1C has recently released the first version of an international consensus guideline for the eligibility assessment of genetic variants for antisense oligonucleotide treatments – the N1C VARIANT guidelines.
These guidelines provide step-by-step explanations for identifying and prioritizing candidates for variant-specific genetic therapies, and include training materials, educational videos and the N1C Variant Eligibility Calculator that aids with the assessments.
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In this workshop, the lead authors of the guidelines – David Cheerie and Marlen Lauffer – will introduce the guidelines and walk participants through the assessment of selected variants using the guidelines. This will be an interactive, hands-on workshop, providing the opportunity to ask questions and learn from the developers of the guidelines directly.
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The guidelines and all accompanying material are freely available via the N1C website:
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David Cheerie is a graduate student in the Costain Lab pursuing a Master of Science degree in Molecular Genetics at the University of Toronto. Prior to this, David obtained his Bachelor of Science in Biochemistry from McMaster University. His work seeks to define clinical and molecular genetic principles that can be used for screening rare genetic diagnoses for amenability to bespoke genetic therapy development.
Marlen Lauffer is a senior researcher at the Dutch Center for RNA Therapeutics where she is responsible for identifying suitable candidates for individualized ASO treatments and overseeing the practical work at the lab in Leiden. She was trained as a medical doctor and human geneticist in Germany, Switzerland, Australia, and the UK; and has been working on rare neurogenetic disorders for the past decade. Marlen is currently co-leading the Patient Identification workgroup of the N1C.
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