The Angelman Syndrome Alliance (ASA) supports research on Angelman syndrome with up to 350.000,- Euro to be awarded at the next International Angelman Syndrome Scientific Conference. The Angelman Syndrome Alliance is an initiative of the following parent organizations ASB (Belgium), ASFA (France), Angelman e.V. (Germany), ORSA (Italy), AIA (Ireland), AV (Netherlands), Angel (Portugal), Angelman UK (United Kingdom), AVO (Austria), Israeli AS Foundation(Israel), JASSG (Japan), Spain (ASA) and the Nina Foundation (Netherlands) who have created an international organization on AS science. Their mutual aim is to join forces and funds to increase the financial support of dedicated research projects and thereby intensify research on Angelman Syndrome.

Angelman Syndrome Alliance

ASA funded projects

2014 – 2018  Ben Distel
Elucidating the molecular mechanisms underlying E6AP function in the brain

The project funded a PhD studentship taken up by Rossella Avagliano to investigate several protein targets of UBE3A (also called E6AP) that were found in a genome-wide yeast two-hybrid screen using E6AP as a bait.  Biochemical techniques were used to characterize the proteins.  The results of this study have been published in Microbial Cell (2018) Mar 5; 5(3): 150–157.  A versatile plasmid system for reconstitution and analysis of mammalian ubiquitination cascades in yeast.  Rossella Avagliano Trezza, Janny van den Burg, Nico van den Oever, and Ben Distel.

2014 – 2016 Geeske M. van Woerden and Ype Elgersman
In vivo characterization of E6AP interacting proteins

The project investigated several proteins found to interact with UBE3A (also called E6AP).  They looked at how the proteins interacted with UBE3A in the developing brain of mice, and the effect on neuronal function, to try to see if they were causing any of the behavioural characteristics of AS seen in a mouse model.

2016 – 2019 Silvia Russo and Tiziana Borsello
Potential therapeutic approach for synaptic deficit in Angelman syndrome: the JNK inhibitor peptide.

This project aims to explore in an AS mouse model, as well as in iPSCs-derived neurons from selected AS patients, the association between JNK signalling and UBE3A deficit to test the efficacy of JNK inhibition with a specific cell-permeable inhibitor peptide (D-JNKI1).

2016-2018  Benjamin Philpot
Quantifying EEG abnormalities and identifying biomarkers in Angelman Syndrome

Prior to this project clinicians had qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman Syndrome, but this phenotype had yet to be rigorously quantified in the clinical population or validated in a preclinical model.  Ben’s group sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker.  They quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific and developmental changes in delta rhythms in a patient populations.  Their study, “Delta rhythmicity is a reliable EEG biomarker in Angelman Syndrome: a parallel mouse and human analysis”, was published in the Journal of Neurodevelopmental Disorders 2017 9:17.  Michael S. Sidorov, Gina M. Deck, Marjan Dolatshahi, Ronald L. Thibert, Lynne M. Bird, Catherine J. Chu and Benjamin D. Philpot.

The ASA Board

Martin Scheffner

Martin Scheffner is a Professor of Biochemistry at the University of Konstanz in Germany. He has been on the Scientific Advisory Board (SAB) of the Angelman Syndrome Alliance since its conception in 2013. The work of his research group focuses on the biochemical and physiological aspects of ubiquitin modification of proteins (“ubiquitination”), with a special emphasis on the role of the ubiquitin-conjugation system in human disease. Current work focuses on several ubiquitin-protein ligases including E6AP (encoded by the UBE3A gene), which has been causally implicated in the development of cervical cancer, Angelman syndrome, and more recently, autism spectrum disorders.

Harald Sitte

Harald Sitte is a Professor of Psychopharmacology in the Institute of Pharmacology at the Medical University of Vienna in Austria. He has been on the Scientific Advisory Board of the Angelman Syndrome Alliance since it began in 2013. His research work focuses on determining neurotransmitter transporter functions using spetroscopical techniques.

Betty Willemsen

Betty Willemsen is the aunt of a young lady with Angelman Syndrome. She lives in the The Netherlands with her family and is currently Chair of the Nina Foundation board and President of the Angelman Syndrome Alliance.

Manuel Duarte

Manuel is the father of a young man with Angelman Syndrome and lives in Portugal with his wife Catarina and their children. Manuel is President of ‘Angel’, the Portuguese Angelman Syndrome organisation.

Katie Cunnea

Katie Cunnea is AngelmanUK’s Science and Research Officer, she is a Biochemist (BSc) with a PhD in Structural Biology (CryoEM), and works for Diamond Light Source, the UK’s Synchrotron and national Electron Microscope Facility. With PhD student Emma Cowan, Katie is working on a project to determine the structure of UBE3A and associated proteins.