Experts

Professor of Clinical Genetics

I first became interested in Angelman Syndrome as a junior doctor, shortly after I had started training in Clinical Genetics. Whilst working at the Institute of Child Health in London Professor Marcus Pembrey introduced me to a family who had three daughters with Angelman Syndrome, and told me about a number of other families known to Great Ormond Street Hospital. This resonated with me as I remember being shown a photograph of this same family when they were published in the literature whilst I was a student in Manchester. The genetic basis of Angelman Syndrome had just started to be identified, as a couple of patients had been suggested to have deletions on chromosome 15 , interestingly in labs in Manchester and London. Marcus suggested that I might want to do a research study on Angelman Syndrome and encouraged me to apply for an Action Research Training Fellowship which I was subsequently awarded after interview. Thus began a career-long interest in Angelman Syndrome.

During the next three years I travelled around the UK recruiting patients to my study and met some amazing Angelman individuals and their families. I also undertook laboratory work under the supervision of Prof Sue Malcolm and we described the first Angelman patients with uniparental disomy of chromosome 15. I had the chance to travel to the first Angelman Syndrome Foundation meeting in the USA which was in Florida. There I met Dr Harry Angelman and his wife Audrey and kept in touch with them over the years until they passed away.

In 1992 I moved back up to Manchester and completed my MD thesis on a Clinical and Genetic Study of Angelman Syndrome. When the UBE3A gene was discovered several years later I worked with our Manchester laboratory to set up a diagnostic service for Angelman Syndrome in the UK and continued to see many patients in clinic. I have also been involved in drawing up the consensus diagnostic criteria for Angelman Syndrome, the development of management guidelines for Angelman Syndrome and guidelines for genetic testing. For several years I have worked to identify the cause of symptoms in individuals with AS-like disorders where we could not identify chromosome 15 abnormalities and this has become one of my specific research areas. As coordinator of the European Reference Network ERN ITHACA I am able to share ideas and collaborate with a number of other specialists in AS throughout the EU.

Together with Dr Dan Hindley and a multidisciplinary team we now run a specialist clinic for Angelman Syndrome from the Manchester Centre For Genomic Medicine and continue to be involved in clinical research in this area. I have had a relationship with Angelman Syndrome Support Groups spanning nearly thirty years and hope to continue to be involved for several years to come.

Professor in Paediatric Neurology

Professor Helen Cross is The Prince of Wales’s Chair of Childhood Epilepsy and Head of the Developmental Neuroscience Programme at UCL-Great Ormond Street Institute of Child Health, Honorary Consultant in Paediatric Neurology Great Ormond Street Hospital for Children NHS Foundation Trust, London and Young Epilepsy, Lingfield, UK. Her research has been targeted at improving outcomes in early onset epilepsy, specifically in assessing the role of surgery and ketogenic diet. She has also held key leadership roles both nationally and internationally. She is Treasurer of the International League Against Epilepsy 2017-2021 (Secretary General 2013-2017), Clinical Advisor to the National Children’s Epilepsy Surgery Service, Clinical Advisor to the update of the NICE guidelines for Childhood Epilepsy, and Chair of the Neurosciences Clinical Study Group of the Clinical Research Network (Children). She developed as Coordinator of the European Reference Network for Rare and Complex Epilepsies (EpiCARE) launched in 2017.

Professor: paediatric neurologist

Bernard Dan is a paediatric neurologist at the Université Libre de Bruxelles (Belgium) with longstanding interest in Angelman Syndrome and has a particular friendship with AngelmanUK. He is the author of one of the only books about the syndrome. His interest in Angelman Syndrome has more particularly concerned brain functioning, including movement control, epilepsy and sleep, and he is involved in basic research on animal models of the syndrome. He organized the First National Symposium on AS in Brussels in 1997, wrote a handbook on the syndrome for families and professionals, and wrote chapters dedicated to Angelman Syndrome in a number of reference books. Professor Dan also contributes medical articles on his research, reviews articles for many professional journals around the world, and is the current editor in chief of the journal in which Doctor Angelman first described the syndrome back in 1965.

Professor of Neurodevelopmental Disorders

Chris Oliver is Professor of Neurodevelopmental Disorders at the University of Birmingham and director of the Cerebra Centre for Neurodevelopmental Disorders. He trained as a clinical psychologist at Edinburgh University before completing a PhD on self-injurious behaviour in people with intellectual disability at the Institute of Psychiatry, London. Chris is currently researching early intervention, behaviour disorders in people with severe intellectual disability and autism spectrum disorder, behavioural phenotypes in genetic syndromes and neuropsychological and behavioural assessment for people with severe intellectual disability. He has published over 170 peer reviewed articles in scientific journals (including over 20 papers on Angelman syndrome), is Editor in Chief for the Journal of Intellectual Disability Research and serves on a number of scientific advisory committees for syndrome support groups. Sadly, he supports Luton Town Football Club.

http://www.findresources.co.uk/the-syndromes/angelman

Associate Professor in the Department of Molecular Biology

Rebecca Burdine is an Associate Professor in the Department of Molecular Biology at Princeton University. Rebecca received her PhD from Yale University where she worked on fibroblast growth factors in cell migration. Her postdoctoral work at the Skirball Institute for Biomolecular Medicine at New York Univeristy focused on organ formation and patterning in zebrafish. In 2003, she joined the faculty at Princeton, where her research program continues to focus on organ formation and the genetics underlying congenital heart defects and kidney disease. Dr. Burdine is mother to Sophie (12) who has the Class I deletion form of Angelman Syndrome. She has served as the Chief Scientific Officer for the Foundation for Angelman Syndrome Therapeutics and for the Pitt-Hopkins Research Foundation. She is currently a member of the scientific advisory boards of the Angelman Syndrome Foundation, the Pitt-Hopkins Research Foundation and Perlara, and is on the clinical trial steering committee for Ovid Therapeutics.

Emeritus Professor of Communication Sciences and Disorders

Dr. Stephen Calculator is an Emeritus Professor of Communication Sciences and Disorders at the University of New Hampshire. He was previous chair and worked in the department for over 30 years. Dr Calculator was appointed to the ASF Scientific Advisory Committee in 2008 and is also as a member of the Communications Advisory Committee. He has published and lectured extensively in the areas of augmentative and alternative communication (AAC) and inclusive education for students with severe disabilities. Dr. Calculator developed the Enhanced Natural Gestures system, an evidence-based approach for developing a communication repertoire in individuals with AS. In 2015 he published his edited book, “Angelman Syndrome: Communication, Educational, and Related Considerations.”

Early Years Teacher and AAC Specialist

Mary-Louise Bertram is an early years teacher in Australia, she had four children with Angelman Syndrome in her class. As Mary-Louise was already an AAC specialist she began using aided language stimulation with full language system in the class. When all four students developed their communication skills beyond simple choice making Mary-Louise began to spread the word. She travels the world presenting at conferences and helping families to help their loved ones to increase their communication skills.

Special Education Specialist

Erin Sheldon has a double whammy of experience with Angelman Syndrome (AS). Her daughter Maggie has AS so gets a chance to practice aided language stimulation at home as well as at work. Erin works for Assistiveware as an Education and AT Specialist. Her Master’s Degree focused on the educational needs of students with Angelman Syndrome. Erin conducts professional development workshops for educators and therapists on the assistive technology, communication, and literacy needs of students with significant disabilities, including AS. She has published journal articles, book chapters, and manuals for educators and was one of the experts involved in the communication training series produced by the Angelman Syndrome Foundation (ASF) in the United States.

Speech and Language Therapist

Jane Farrall is one of the highest regarded experts in Augmentative and Alternative Communication (AAC) in the world. A Speech and Language Therapist with over 25 years experience, she has worked extensively with adults and children in a range of settings to help improve their communication and literacy skills. Jane is currently an independent consultant in literacy, AAC and Assistive Technology. She is the organiser and founder of the Big Mouth Camps for school aged students using speech generating devices in Australia and now regularly presents intensive literacy courses across the world.

Intensive Special Needs Teacher and Assistive Technology Specialist

Kate Ahern is an intensive special needs teacher, certified for ages birth through adult in Massachusetts, and an assistive technology specialist. She has spent twenty years working with children and young adults who have complex communication needs. She also is the author of a popular special education blog and moderates several social media groups about augmentative and alternative communication. Kate is often asked to guest speak or provide training about many issues in the field of complex communication needs.

Head Teacher and Certified PODD Trainer

Rosie Clark is the original UK PODD trainer. She is head teacher of Woodlands School in Surrey. Rosie and her colleagues fully support the practice that every individual can improve their language and literacy skills with the correct teaching practices. Rosie promotes open expectations and provides opportunities for pupils with complex communication needs by inclusive literacy instruction and access to full language systems.

Special Needs Teacher and Certified PODD Trainer

Hot on Rosies’ heels is Livvy Hepburn, she is now a fully certified PODD trainer. A teacher at Manor Mead School in Surrey, Livvy has introduced PODD, Aided Language Simulation and Literacy techniques for those with complex communication needs into her school. She believes that progress can be made when pupils are given the opportunity.

Professor

Ben Philpot has a PhD from the University of Virginia. He is an Associate Director of UNC Neuroscience Centre. Work in his laboratory focuses on understanding the pathophysiology underlying single gene neurodevelopmental disorders and identifying and validating novel therapeutics for their treatment.

Dr

Ben Distel is a Principal Investigator at AMC Amsterdam. His research work aims to unravel the role of the E3 ligase E6AP in Angelman Syndrome

Dr

Silvia Russo is a Group leader at IRCCS Instituto Auxologico Italiano. She is studying genotype phenotype correlation in Angelman Syndrome.

Tiziana Borsello currently works at the Department of Pharmacological and Biomolecular Sciences, University of Milan. Her research fields are focused on chronic neurodegeneration models (Alzheimer's Disease), and her works revealed an important role for the JNK signaling pathway in AD. She is now focusing her research efforts in identifying new therapeutical strategies to prevent synaptopathy (spine dysfunction/loss) both in neurodegenerative diseases (as AD and tauophaty) than in developmental ones (Rett, Angelman). In the last years, the Borsello's laboratory is studying the involvement of JNK pathway in tauopathy, underlying the influence of sex on neurodegenerative diseases.

Professor

Ype Elgersma is a Professor of Molecular Neuroscience at Erasmus Medical Centre in Rotterdam and is also the Scientific Director of ENCORE Expertise Centre for Neurodevelopmental Disorders. His current focus is trying to understand how motor deficits in Angelman syndrome arise, and whether the neurological deficits are reversible.

Associate Professor

Geeske M.Van Woerden is an associate Professor at Erasmus Medical Centre, Erasmus University, Rotterdam and works closely with Ype Elgersma's.