Matthis Synofzik
Professor Dr. Matthis Synofzik, MD, is head of the research unit “Translational Genomics of neurodegenerative diseases” and senior consultant neurologist at the Hertie Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Germany. He leads the outpatient clinics for Frontotemporal Dementias and for Amyotrophic Lateral Sclerosis, and is co-chair of the Ataxia outpatient clinics at the Center for Neurology. Using latest next-generation genomic sequencing techniques, he has been leading or involved in the identification of >20 novel ataxia and spastic paraplegia (HSP) genes in the last 10 years. Matthis leads several worldwide EU-funded consortia on rare neurological diseases like PREPARE, PROSPAX and EVIDENCE-RND. He is Chair of the global trial-readiness platform “ATAXIA GLOBAL INITIATIVE”- a worldwide multicenter translational initiative to pave the way for all crucial translational steps from NGS genetic fingerprinting to FDA-conform trial-readiness cohorts of ataxia patients. Theses large-scale endeavours allow his group to directly draw on large global patient, biomaterial, NGS datasets and outcome measure modelling to inform comprehensive and thorough development and evaluation of individualized n-of-1 ASO treatments.
As part of the steering committee of the 1 MUTATION 1 MEDICINE (1M1M) consortium (https://www.1mutation1medicine.eu/), he has already charted the path to establish this exciting novel therapy approach of ultra-individualized ASO treatments in Europe (Synofzik et al, 2021, Nucleic Acid Therapy). This work is paralleled by his leadership work in the transatlantic IRDiRC N-of-1 Taskforce (https://irdirc.org/preparing-for-genetic-n-of-1-treatments-of-patients-with-ultra-rare-mutations/) as well as transatlantic N-of-1 Collaborative (N1C) (https://www.n1collaborative.org). His lab is developing a scalable platform for n-of-1 ASOs for severe brain diseases, from bedside to bench to bedside, with Ataxia teleangiectasia (A-T) as a forerunner showcase disease.