PROJECT: JTC2020: SensingASD

Targeting Sensory Dysfunctions in Autism Spectrum Disorders


Sensory dysfunction is a major feature of genetic mutations linked to Autism spectrum disorders (ASDs). Recent studies on ASD-linked genes have demonstrated that abnormal development of the sensory system is sufficient to cause sensory and social behavioral defects observed in ASDs, and that they can be largely rescued by pharmacologically targeting the periphery. Thus, ASD-linked genetic mutations may well primarily cause sensory dysfunction, which can be pharmacologically treated as such. ASD risk genes including Fmr1, Cyfip1 and Taok2 affect sensory function and control mRNA translation. However, the link between translational control and sensory dysfunction has not been established so far, despite the potential of identifying therapeutically relevant targets. We will study these three major ASD risk genes in fly and mouse models as well as in patient iPS cell-derived sensory neurons. Based on our previous work and preliminary data, we will investigate somatosensory and olfactory behavioral changes, and use genome-wide translational profiling approaches to identify key target proteins required for normal sensory function. We aim to establish the mechanistic basis for a major role of ASD-relevant proteins in protein homeostasis in these sensory systems and to generate proof of principle data for relevant targets and pharmacological rescue approaches. This will provide an entry point to develop therapeutic interventions for patients with ASD-linked sensory dysfunctions.


Autism, Behavioural methodologies, (epi)genetic approaches, mouse, omics approaches, Animal studies, olfaction, somatosensory, Drosophila, polysome profiling

Call topic

Sensory Disorders

Proposed runtime

2021 - 2024

Project team

Peter Soba (Coordinator)
Germany (BMBF)
Claudia Bagni
Belgium (SNSF)
Froylan Calderon de Anda
Germany (BMBF)
Karun Singh
Stephen W. Scherer
Baiba Jansone
Latvia (VIAA)

Lay summary