Research into Angelman Syndrome has been gradually advancing since Harry Angelman first characterised AS. Research interests can be split into two main areas:
- Research aiming to study the characteristics of AS, such as poor speech, mobility problems, behaviours that are socially hard to manage.
- Research looking at the genetics and chemistry of the body, how this is altered in AS and how we might try to biochemically reverse these differences.
AngelmanUK directly funds and supports small scale projects, such as those looking at behavioural difficulties, and speech and language problems.
AngelmanUK is dedicated to supporting and initiating all types of research into AS, but it was apparent to us and other small charities like ourselves that we could never hope to fund the kind of research that looked for treatments for AS. Funding scientific research can be extremely expensive, with most laboratory based projects requiring in excess of £100,000 a year. In about 2012, probably fuelled at least in part by social media, and the ability of parents/carers to communicate and begin to form a stronger, larger community, there was a significant increase in efforts to influence the scientific world to look for treatments for AS.
Funding for large scale research into AS either comes from general scientific funding organisations, or from AS specific charities. Currently the three largest of these are the Angelman Syndrome Foundation (ASF) and the Foundation for Angelman Syndrome Therapeutics (FAST) in the USA and the Angelman Syndrome Alliance (ASA) based in Europe.
AngelmanUK decided to become a founder member of the ASA in order to influence the direction of research and fund those projects it deemed most important. The aim of the ASA is to fund research that will ultimately result in the development of medicinal treatments and therapeutics for people with Angelman Syndrome. AngelmanUK funds researchers directly through this project, and it is the main way that we spend funds dedicated to research into Angelman Syndrome.
Is a cure for Angelman Syndrome possible?
If you are new to the diagnosis of Angelman Syndrome you will have no doubt come across the statement that a cure for Angelman Syndrome is possible. There is no disputing the fact that science has moved on incredibly quickly in recent years, thanks in no small part to the AS organisations who have aggressively funded scientific research with a cure in mind. However, whilst AngelmanUK actively funds scientific research through the Angelman Syndrome Alliance, we urge parents and carers to be cautious when reading sweeping statements about curing a genetic disorder such as Angelman Syndrome.
AngelmanUK is optimistic that the advancement of scientific research will see an improvement in the treatments and medications available to treat some of the symptoms and characteristics of Angelman Syndrome, such as seizures, Gastro-Intestinal issues or the lack of sleep etc. Advanced technology, training and an increase in both parents and professionals presuming competence is also allowing those with Complex Communication Needs to communicate in ways that would have never been possible in years gone by.
Click here for first webinar about the U.K. Angelman Trial. Professor Laurent Servais, MD, PhD Professor of Paediatric Neuromuscular Diseases at the University of Oxford, explains in more detail what is involved and why the trial is important. This presentation was recently heard during the collaborative AngelmanUK/FAST U.K. Webinar on 02 July 2021.
University of Oxford researchers Dr Theodora Markati and Prof Laurent Servais have provided an update on the progress of the Natural History Study for Angelman Syndrome and on the Clinical Trials. Also, you can hear a quick community update from us and FAST UK. Click here to watch. Webinar on 28th February 2022.
For more information about the scientists and researchers working hard to help our loved ones please see ‘Who’s who’ under the Research tab.