Synofzik, Matthis (UT)

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 (, 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 ( as well as transatlantic N-of-1 Collaborative (N1C) ( 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.