TALKS, POSTERS AND PUBLICATIONS


DISSEMINATION

DCRT's development of antisense oligonucleotide (ASO) treatment for individual patients (N-of-1) with genetic brain or eye disorders are addressed in numerous talks and poster presentations at (inter)national meetings and conferences.

 

DCRT's goals and challenges are outlined in the 2021 publication of Annemieke Aartsma-Rus in Nature Medicine. Together with the N=1 Collaborative, the DCRT published consensus guidelines for the development of individualized ASOs on a global level, and, in collaboration with the 1Mutation1Medicine (1M1M) consortium, we wrote an article about our plan for the development of treatments for individual patients in Europe.



DISSEMINATION

POSTERS AND PUBLICATIONS

    Posters 2024


    Platform to screen for ASO-mediated neurotoxicity in human control-derived iPSC neuronal cultures. Anouk Spruit et al.


    Using a midi-gene assay for the development of an allele-specific gapmer antisense oligonucleotide targeting a heterozygous ACTL6B variant. Nick van Dullemen et al.


    Evaluation of gapmer ASO candidates targeting a heterozygous ACTL6B variant in neurons transdifferentiated from patient fibroblasts. Janina Lösch et al.


    ExonViz: an application to generate and visualize transcripts including variants. Redmar van den Berg et al.


    Generation of isogenic hiPSC lines to elucidate the pathomechanism of the recurrent c.1027G>A, p.Gly343Arg variant in ACTL6B. Bianca Zardetto et al.


    Individualized antisense oligonucleotide therapies for patients with rare neurological disorders. Marlen Lauffer et al.


    Antisense oligonucleotide-mediated exon skipping treatments for neurodevelopmental disorders associated with tandem-repeat domain missense variants in ANKRD17. Jack Morgan et al.


    Recommendations for the identification of genetic variants eligible for individualized antisense oligonucleotide treatments. Marlen Lauffer et al.


    Development of an individualized splice-modulating antisense oligonucleotide therapy for patients suffering from NDUFAF6-associated Leigh Syndrome. Iris Ensink et al.


    ExonViz: an application to visualize transcripts and variants. Redmar van den Berg et al.


    Posters 2023


    Human in vitro toolbox for ASO screening and neurotoxicity studies. Marlen Lauffer et al.


    Patient and variant stratification for personalized genetic treatments of nano-rare diseases. Marlen Lauffer et al.


    Exploring the 5'UTR-mediated regulation of ataxin-1 protein expression using splice-modulating antisense oligonucleotides. Laurie Kerkhof et al.


    Towards allele-selective gapmer ASO design. Emilio Harris-Mostert et al.


    Development of a customized antisense oligonucleotide-based therapeutic strategy for Stargardt disease. Edwin van Oosten et al.


    Transdifferentiation of fibroblasts to oligodendrocytes as a platform for ASO-screening. Dion den Hertog et al.


    Splice-modulating antisense oligonucleotide treatments for PLP1-associated HEMS. Bianca Zardetto et al.


    Rational design and testing of allele-selective gapmer antisense oligonucleotides. Emilio Harris-Mostert et al.


    A retrospective analysis of the parameter guidelines for AON design on exon skip efficacy in ATXN1 and ATXN3. Frederique Rotteveel et al.


    Posters 2022


    Patient and variant stratification for personalized antisense oligonucleotide treatments. Marlen C. Lauffer et al.


    Personalized antisense-oligonucleotide therapy for a patient with beta-propeller protein-associated neurodegeneration. Anouk Spruit et al.


    RNA therapy development for SCA1 using RNA degrading- and splice-modulating antisense oligonucleotides. Laurie Kerkhof et al.


    The Dutch Center for RNA Therapeutics: a center to develop antisense oligonucleotide therapies for patients with nano-rare mutations. Marlen Lauffer et al.


    ExonCheck: a tool to prioritize ultra-rare disease patients for personalized antisense oligonucleotide therapies. Iris Huitink et al.


    Development of an allele-specific antisense oligonucleotide targeting a heterozygous ACTL6B variant. Max Voslamber et al.


    Personalized antisense oligonucleotide therapies for rare neurodevelopmental disorders. Bianca Zardetto et al.



    PUBLICATIONS


    ExonViz: A website and Python package to visualize transcripts and genetic variants

    Redmar R. van den Berg, Marlen C. Lauffer, Jeroen F.J. Laros

    medRxiv 2024.09.18.24313945; https://doi.org/10.1101/2024.09.18.24313945


    Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

    Bianca Zardetto, Marlen C. Lauffer, Willeke van Roon-Mom and Annemieke Aartsma-Rus

    Human Mutation, 2024


    Possibilities and limitations of antisense oligonucleotide therapeutics for the treatment of monogenic disorders

    Marlen C. Lauffer, Willeke van Roon-Mom and Annemieke Aartsma-Rus

    Communications Medicine, 2024, 4:6.


    Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

    Annemieke Aartsma-Rus, Alejandro Garanto, Willeke van Roon-Mom, Erin M. McConnell, Victoria Suslovitch, Winston X. Yan, Jonathan K. Watts, and Timothy W. Yu, on behalf of the N=1 Collaborative

    Nucleic Acid Therapeutics, 2023, 33(1), 17-25.


    Development of tailored splice switching oligonucleotides for progressive brain disorders in Europe: development, regulation and implementation considerations

    Annemieke Aartsma-Rus, Willeke van Roon-Mom, Marlen Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, and Holm Graessner

    RNA,2023 Jan 20


    From Failure to Meet the Clinical Endpoint to U.S. Food and Drug Administration Approval: 15th Antisense Oligonucleotide Therapy Approved Qalsody (Tofersen) for Treatment of SOD1 Mutated Amyotrophic Lateral Sclerosis

    Willeke van Roon-Mom, Chantal Ferguson and Annemieke Aartsma-Rus

    Nucleic Acid Ther, 2023, 33(4), 234-237.


    Therapeutic Strategies for Spinocerebellar Ataxia Type 1

    Laurie M. C. Kerkhof, Bart P. C. van de Warrenburg, Willeke M.C. van Roon-Mom and Ronald A. M. Buijsen

    Biomolecules, 2023, 13(5), 788.


    ‘N of 1’ therapies need a better model

    Annemieke Aartsma-Rus

    Nature Medicine, June 2021, VOL 27 ,939.


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