Ronald Buijsen, PhD
Leiden University Medical Center
Dr. Buijsen has expertise in antisense oligonucleotide (AON) design and optimization in cell models and animal models using a wide variety of molecular, immunohistochemical and functional assays. In 2012, Dr. Buijsen started his PhD at the Clinical Genetics department of the Erasmus Medical Center in Rotterdam. 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 a postdoc working on spinocerebellar ataxia type 1 (SCA1). The research was funded by the Dutch SCA1 Families Fund and the Dutch Brain Foundation. The aim of this postdoc project is to develop an AON-based therapy targeting the ataxin-1 transcript. Ronald designed various AON-based intervention strategies and is currently testing and optimizing the efficiency of these strategies in patient-specific cell models.