Dr. Buijsen started his PhD at the Clinical Genetics department of the Erasmus Medical Center in Rotterdam in 2012. During his PhD he investigated experimental approaches towards therapeutic intervention for the repeat-associated, neurodegenerative disorder, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). To identify the roles of expanded CGG repeat RNA and the polypeptides translated from these repeats through a mechanism called RAN (repeat associated non-AUG) translation, he developed new neuronal cell models and mouse models. In these models he showed that the use of AONs and small RNA binding compounds that shield the CGG repeat and block RAN translation have great potential to ameliorate FXTAS.
In 2016, Dr. Buijsen moved to the department of human genetics at the LUMC to start as an independent postdoc working on spinocerebellar ataxia type 1 (SCA1). SCA1 is a hereditary, neurodegenerative disorder caused by a CAG-repeat expansion in the ATXN1 gene. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. The aim of his research is to develop an AON-based therapy targeting the ataxin-1 transcript. Dr. Buijsen designed various AON-based intervention strategies and is currently testing and optimizing the efficiency of these strategies in newly developed patient-specific cell models. His research is funded by the Dutch SCA1 Families Fund and the Dutch Brain Foundation (Hersenstichting Nederland).