Docent Pekka Postila and Professor Olli Pentikäinen from the Institute of Biomedicine and InFLAMES Flagship have received 100,000 dollars in funding from the SynGAP Research Fund (SRF) for SynGAP syndrome research.
SynGAP syndrome is a rare neurological disease caused by a mutation in the SYNGAP1 gene. The disease manifests itself as varying degrees of intellectual disability, movement disorders or autism spectrum traits. SynGAP syndrome is often underdiagnosed and it may be linked to complex pathologies such as Alzheimer’s disease.
– The aim of the research is to develop tools to identify severe point mutations that cause the disease based on sequence data. This way we can help clinicians diagnose and treat patients better, says senior researcher Pekka Postila.
The research group works closely with researchers Michael Courtney and Lili Li from the Turku Bioscience Centre. Moreover, the research relies heavily on supercomputing resources provided by CSC.
InFLAMES Flagship is a joint initiative of University of Turku and Åbo Akademi University, Finland. The goal of the Flagship is to integrate the immunological and immunology-related research activities to develop and exploit new diagnostic and therapeutic tools for personalised medicine. InFLAMES is part of Academy of Finland´s Flagship Programme.