Dr. Erik Boot, Advisium, ‘s Heeren Loo
Title: “22q11.2 deletion syndrome: A clinically identifiable high-risk human model for schizophrenia and early-onset Parkinson disease”
Monday September 10th, 2018 at 4 PM
Location: Jo Ritzenzaal (room S0.007), Oxfordlaan 55, Maastricht
22q11.2 deletion syndrome: A clinically identifiable high-risk human model for schizophrenia and early-onset Parkinson disease
22q11.2 deletion syndrome (22q11.2DS) is the most common human microdeletion syndrome, affecting about 1 in 3000 live births. 22q11.2DS is associated with a 20-fold increased risk of schizophrenia, and a 20- to 70-fold increased risk of Parkinson’s disease (PD), especially with early-onset (<45 years). In this talk, Dr. Boot will discuss the current knowledge on possible pathophysiological mechanisms underlying 22q11.2DS-associated schizophrenia and PD, with a special focus on the dopamine system and PD. Also, he will discuss that further recognition of 22q11.2DS and study of 22q11.2DS-associated PD could provide insights into the mechanisms underlying PD in the general population, and that 22q11.2DS may serve as an identifiable PD model to study prodromal PD and disease-modifying treatments.
Dr. Boot is a Dutch physician, specialized in intellectual disability medicine. His clinical and research interests include genomic disorders, their biological consequences and their manifestations of brain dysfunction, such as intellectual disabilities, psychiatric disorders and movement disorders. He completed his PhD thesis on adults with 22q11.2 deletion syndrome and neurotransmitter systems in 2010. From 2014-2016, Dr. Boot trained as a post-doctoral fellow in the Department of Psychiatry at the University of Toronto, Canada. This was a clinical and research fellowship program at The Dalglish Family 22q Clinic; the world’s first comprehensive, interdisciplinary clinic devoted to adults with 22q11.2 deletion syndrome and their families. During his fellowship, he received the McLaughlin early career investigator award, the Max Alexandroff award, the psychiatrics consultants fellowship travel award, and the fellows research award that he won two consecutive years. Dr. Boot has authored and co-authored over 50 peer-reviewed journal articles and book chapters.
Participation is free, but please note that registration is obligatory. Due to limited places (70) early registration is recommended.