Translational Neurogenetics

Friedreich's ataxia, C9orf72-associated ALS, and myotonic dystrophies — characterising the genetic and phenotypic landscape, developing fluid biomarkers for treatment response (NfL in omaveloxolone trials), and integrative short- and long-read transcriptomic analyses.

Spinal muscular atrophy (5q-SMA), amyotrophic lateral sclerosis, and hereditary spastic parapareses — from longitudinal biomarker dynamics (neurofilament light chain in CSF and serum) to long-term outcomes under disease-modifying therapies and nationwide health-economic analyses.

Investigation of rare disorders including VPS13A disease (chorea-acanthocytosis), RFC1-associated CANVAS, COQ4-related ataxia-spasticity, and adult polyglucosan body disease — characterising the neuromuscular spectrum and identifying genetic determinants of phenotype.

Discovery of genetic underpinnings and genetic stratification using modern technologies — in particular long-read DNA and RNA sequencing — to resolve complex variants, structural rearrangements, and repeat expansions in rare neurological disease.

Deciphering molecular signalling pathways and disease-relevant biomarkers in CSF, serum, and tear fluid — including TDP-43-specific proteinopathy markers, neurofilament dynamics, and biochemical readouts for monitoring therapy response in clinical trials.

Comprehensive clinical, neuropsychological, and neuroimaging profiling — including AI-based speech analysis as an innovative outcome measure. Alongside, feasibility and efficacy studies of new gene-specific therapies in collaboration with national networks (MND-NET, SMArtCARE, ClinGen, Solve-RD).