
We are studying patients with Angelman syndrome (AS), a developmental disorder that affects movement, speech and social behavior, and investigating interventions that could potentially improve the care of patients with this condition. AS is caused by a deficiency of a maternally-expressed gene and is manifested at birth. Symptoms may include, but are not limited to, functionally severe developmental delay, speech impairments, movement or balance problems, and behavioral uniqueness, including a combination of frequent laughter or smiling, apparent happy demeanor, easily excitable personality, hand flapping movements and short attention span.
Current Projects:
Characterization of Angelman syndrome
We are conducting an observational study, following children with AS over 5 to 10 years to gain a better understanding of disease progression and the clinical features of AS's four molecular subclasses. The study will also attempt to establish genotype-phenotype correlations, which might aid in clinical care of AS patients.
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A trial of levodopa in Angelman syndrome
Levodopa is a drug commonly used in adults with Parkinson disease to control tremors and involuntary movements. Levodopa is not FDA-approved for use in children, but many children have used this drug for a variety of medical conditions over the last 30 years. Parents who put their children with AS on levodopa have reported improvements in cognition and abnormal movements, but the drug has not been rigorously studied in AS. Therefore, the goal of this study is to understand the efficacy of levodopa in these children.
Angelman syndrome clinical research studies
Gene identification for rare Mendelian disorders in collaboration with various basic science laboratories Clinical trials in rare Mendelian disorders
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Dr. Tan is a clinical geneticist with an interest in a broad range of rare and ultra-rare Mendelian disorders, including pediatric cancer predisposition syndromes. He is also interested in the design of clinical trials for rare genetic syndromes. After graduating from medical school in Nottingham (United Kingdom), he undertook training in pediatrics and clinical genetics in Nottingham, Bury St. Edmunds, Cambridge (Cambridgeshire), and Boston. He has been on the faculty at Boston Children’s Hospital since 2006 and has been actively involved in clinical research studies on Angelman syndrome since then. He leads the Boston site of the Angelman Syndrome Natural History study and was the overall principal investigator of a multi-center phase II/III clinical trial of levodopa in Angelman syndrome.
He is also interested in Bohring-Opitz syndrome and serves on the Medical Advisory Board of the Bohring- Opitz Syndrome Foundation.
In addition, he now serves as the site PI of a gene therapy trial in adults with ornithine transcarbamylase deficiency.