Prof. Synofzik spearheads an innovative molecular precision medicine approach to neurodegenerative diseases by developing and implementing systematic translational programs from n-of-1 to common neurodegenerative diseases. These proceed from next-generation genomics profiling via molecular fluid biomarker and digital-motor profiling to trial-readiness and first-in-human treatments. This is includes pioneering a disruptive, world-first scalable platform approach of patient-customized ASO therapies across a broad number of genetic neurodegenerative diseases.

As part of this molecular precision medicine approach, his contributions to the field so far include:

• development and application of next-generation genomics and transcriptomics, disease progression models, protein fluid biomarker profiling, sensor digital-motor biomarkers, and trial-readiness platforms of neurodegenerative diseases (frontotemporal dementia, Alzheimer dementia, ataxias, spasticity diseases);
• aggregation and analysis of large-scale next-generation genomics datasets (whole exome, whole genome, transcriptome) in neurological disease, including built-up of the currently world’s largest NGS database for ataxia NGS datasets (PREPARE GENESIS, >3000 NGS datasets)
• developed techniques and protocols for capture of digital-motor outcomes by body-worn sensors and smartphones for neurodegenerative diseases (e.g. ataxias, HSPs), including remote real-life capture allowing for high ecological validity
• developed multimodal progression models for neurodegenerative diseases (e.g. frontotemporal dementias, ataxias) including fluid protein biomarker, clinical and imaging trajectories
• pioneered individualized RNA therapies for ultrarare neurological diseases, with innovative patient-customized anti-sense oligonucleotides (ASOs), co-leading a European platform (1 Mutation 1 Medicine) that includes streamlined biological, clinical and regulatory development of patient-customized antisense oligonucleotides (ASOs), with implementation of first n-of-1 ASO treatment in Europe