The 8th ASA scientific conference on Angelman Syndrome in Coventry (UK) on 1st & 2nd August, 2024 brought together top specialists and researchers from around the world, fostering an environment of collaboration and innovation. Esteemed scientists convened to share their latest findings, discuss cutting-edge research, and explore novel therapeutic approaches. The exchange of ideas was dynamic and fruitful, paving the way for future collaborations and groundbreaking advancements. This gathering not only highlighted the progress made in understanding Angelman Syndrome but also set a robust foundation for continued research, ultimately aiming to improve the lives of those affected by this rare genetic disorder.
Here the list of the topics presented the specialists, which formed the basis for very interesting dicussions.
1st of August:
1. Kiyoshi Egawa – Obesity and Gender Differences Induced
2. Simão Teixeira da Rocha – Stem Cell Toolkit for Modelling Cerebellar
3. Stormy Chamberlain– Pre-clinical studies of ASOs targeting UBE3A-ATS
4. Silvia Russo – NK Pathway Deregulation and the Potential Role of the D- JNKI1 Peptide in AS Investigated in Patient-Specifc iPSC-Drived Cortical Neurons
5. Matteo Fossati – Investigation of Genetic Determinants of AS Syndrome Pathophysiology in Human Neurons
7. Ramiro de Almeida – UBE3A Regulates Synapse Formation in Early Stages
8. Carmen De Caro & Edoardo Ferlazzo – The Gut Microbiota in Angelman Syndrome Patients
2nd of August:
1. Edwin Mientjes – Mouse models to guide AS research and identify treatments
2. Ilaria Tonazzini – Brain targeting nanovectors for theapeutic development in AS
3. Laura Baroncelli – New neuroimaging tools for Angelman Syndrome
Infrared monitoring of brain activity with a cap on the head.
4. Chiara De Cesari – Neuronal extracellular vesicles as nanotools to study and monitor AS neurodevelopmental disorder
5. Hugo Mayor – AS causing UBE3A ligase displays predominantly synaptic ubiquitination activity in the mouse brain
6. Doesjka Hagenaar – Outcome measures in AS
7. Karen Bindels – Hyperphagia, growth, puberty and bone health in children with AS
8. Marie-Claire De Wit – C-BILLT communication measurements
9. Robert Carson (remote) – Managing Tremor and Myoclonus
10. Gabriela Gazdagh – AS, mosaicism and Multi-Locus imprinting disturbance
11. Jane Waite – Outcome measures for measures for behaviour, cognition, and emotion in rare syndrome research
12. Amanda Moore – Ladder Learning Network
13. Catherine Breen – AS multidisciplinary.clinic in Manchester
The ASA scientific conference was successfully hosted by Angelman UK.