How a "Loss of Function" May Explain the C9orf72 Expansion's Link to ALS and FTD

Professor Janice Robertson at the University of Toronto, is a molecular cell biologist with a focus on C9orf72 and especially what may be explained by the loss of function of the normal C9orf72 gene.
Dr. Janice Robertson is a Professor and James Hunter Family Chair in ALS Research in the Department of Laboratory Medicine and Pathobiology (LMP) and the Tanz Centre for Research in Neurodegenerative Diseases (Tanz CRND) at the University of Toronto. Her research is focused on investigating the molecular mechanisms causing ALS and the related condition, frontotemporal lobar degeneration (FTLD), with an emphasis on identifying targets for therapeutic development. In her prior work, Dr. Robertson’s team identified misfolded SOD1 as a viable therapeutic target for SOD1-ALS; identified motor neuron-specific transcriptional changes related to abnormal TDP-43; characterized TDP-43 isoforms in patient-derived tissues; and established a role for C9orf72 in nucleocytoplasmic transport and neuron communication. Dr Robertson’s team is currently focused on three major areas: 1) Understanding the contribution of C9orf72 loss of function to the pathogenesis of ALS/FTLD; 2) Development of small molecule therapeutics for ALS/FTLD; 3) Deep phenotyping of biofluids and antemortem ALS/FTLD patient-derived tissues for disease stratification. She is Vice Chair of Life Sciences Research, an Executive of the transnational Canadian program Comprehensive Analysis Platform to Understand Remedy and Eliminate ALS (CAPTURE ALS), and co-founder of Neuropeutics, a company focused on translating research findings into treatments for ALS/FTLD.