Matthis Synofzik is Professor and Head of Division, Translational Genomics of Neurodegenerative Diseases, at the Hertie Institute for Clinical Brain Research, University of Tübingen, Germany. His work centres on developing antisense oligonucleotides (ASOs) as programmable, individualized medicines for rare neurological diseases (RNDs).

His lab develops mechanistically driven ASO targeting strategies that successively expand the space of mutations amenable to these programmable precision therapies. To translate the most successful of these strategies into first-in-human application, he has established a scalable bedside-to-bench-to-bedside platform for personalized splice-switching ASOs, built on regulatorily established nusinersen-analogous chemistry, standardized efficacy and safety benchmarking, and systematic screening of patient cohorts for ASO-amenable variants. Ataxia telangiectasia (A-T) serves as the forerunner showcase: three flagship programmes have progressed from variant identification to in vivo studies, and two children now receive personalized ASO therapy in Tübingen and at Boston Children's Hospital, backed by over three years of longitudinal safety and efficacy data. Current work extends the platform to further neurological diseases (e.g. Niemann Pick Type C [NPC]), to mutation classes previously deemed untargetable, and to high-potency, long-acting chemistries that reduce intrathecal dosing frequency.

He has helped to establish frameworks for individualized ASO therapy in Europe, as steering committee member of 1 MUTATION 1 MEDICINE, and in a transatlantic setting, as steering committee member of the N-of-1 Collaborative. He leads the EU consortia PREPARE, PROSPAX and EVIDENCE-RND, as well as pertinent tasks and work packages in ERDERA, providing the global patient, genomic and outcome-measure infrastructure that individualized ASO development requires.