Modelling neurodegeneration using a human genetically matched system: a next generation approach to study frontotemporal dementia and amyotrophic lateral sclerosis

Development of therapies to treat neurodegenerative diseases is hampered by the limited translatability (<10%) of existing preclinical animal models. bit.bio has developed opti-ox, a deterministic hiPSC programming technology that overcomes these limitations and enables the generation of cell types and associated genetically matched disease models.

In this poster, we showcase how genetically matched disease models were engineered to carry ALS- and FTD-relevant mutations. We used CRISPR/Cas9 gene editing to introduce the disease-relevant mutations in SOD1 and FUS in ioMotor Neurons, in MAPT in ioGlutamatergic Neurons, and in TDP-43 (TARDBP) in both.

Our panel of disease-relevant mutations in ioGlutamatergic and ioMotor Neurons will help to understand the similarities and differences between the molecular mechanisms causing ALS and FTD.