The Angelman Network is a

Registered Charitable Trust based in New Zealand

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©2018 by The Angelman Network. 

Research

Our Research Policy

The Angelman Network’s research policy is to support global research on Angelman syndrome in the medical and therapy fields, as well as in the social sciences regarding inclusion in society and carer’s wellbeing. We do this in whatever capacity we can – through grants, fundraising, disseminating information, as well as by applying research data to actively advocate for inclusion, person-centred planning, AAC for communication, and a better life for those with AS and their families. We promote the collection of data and we connect organisations, researchers, and parents when applicable.

 

The Angelman Network supports and promotes:
 

 

The Global Angelman Registry 

Launched in 2016, the Global Angelman Syndrome Registry provides an invaluable resource for information into and about Angelman Syndrome. It plans to:

  • translate the registry into numerous languages in order to improve accessibility around the globe.

  • include mobile applications to allow for data updates wherever you are. 

  • build on the base datasets with new modules and integrate with existing studies to recognise data already collected.  

  • add post-marketing capacity to assist in monitoring future clinical trials.

Share your story in the Global Angelman Syndrome Registry. 

The Global Angelman Syndrome Registry is the first online Patient Driven registry for Angelman Syndrome; putting power in the hands of those who care for someone with the Syndrome.  Parents and caregivers will drive the collection of data by volunteering details that will form what we expect to be the largest collection of information on Angelman Syndrome to date. 

The Registry will provide a tool for understanding developmental progress, medication and seizure management. More importantly, it will provide an invaluable resource to advance the search for therapeutics. The timing is perfect; with pharmaceutical companies anticipating drug trials to treat the syndrome, the Registry provides the perfect mechanism to analyse, recruit and measure effectiveness of treatments. To learn more and join the registry click here

 

 

Angelman Syndrome Research Timeline

 

Dr Harry Angelman & Angelman Syndrome

 

1915: Harry Angelman was born in Birkenhead in the UK.

 

1938 - 47:  He qualified in medicine at Liverpool University. With a view to specialising in paediatrics, he gained a diploma in child health and took up a post at Booth Hall Children’s Hospital in Manchester. He attained membership of the Royal College of Physicians and then went as registrar to the Royal Liverpool Children’s Hospital.

 

1948 – 50: He received his doctorate of medicine from the Royal Liverpool Children’s Hospital and became consultant paediatrician to the Warrington group of hospitals.

 

1965 – He published a research article with the title Puppet Children. After some initial interest, it was almost forgotten until the early 1980’s.

 

1971 - Dr Angelman was granted fellowship of the Royal College of Physicians. He retired five years later.

 

1982 – The first reports of AS reached the US in the early 1980's. Based at the University of Florida, Charles Williams and Jaime Frias submitted a paper reporting studies of six patients, comparing their data to those from Dr Angelman’s report. It became clear that this was a syndrome. They proposed the name change of this disorder, to Angelman syndrome.  The University of Florida became one of the first important centres of AS research under the direction of paediatrician, Dr Charles Williams.

 

1986/7: A parent support group began in America and the Angelman Research Group (ARG) was created. A genetic marker for the disorder was discovered - there was a missing genetic code on a tiny portion of the maternal chromosome #15.

 

1991- The American group restructured and officially became the Angelman Syndrome Foundation (ASF). There are now similar research associations in many countries worldwide that also raise awareness for the syndrome and offer support and information to the families of affected children. More on those here 

 

1996 - Dr Harry Angelman passed away. His wife Audrey Angelman, continued supporting families and promoting awareness of Angelman Syndrome until she passed away in 1999. Audrey was instrumental in the establishment of the first International Angelman Syndrome Organisation (IASO). This has since been dissolved.

 

1997 - Dr Joseph Wagstaff and Dr Arthur Beaudet discovered that the cause of AS is a mutation in the UBE3A gene (which is missing in the case of a deletion). To date, there are four different genetic confirmations for AS that can be determined by genetic testing. For more details, see Testing for AS.

 

21st Century Research

2007 - Edwin Weeber, Ph.D. and colleagues reversed the neurological deficits in a mouse model of Angelman syndrome by preventing the inhibition of CaMKII, an enzyme highly expressed in brain regions affected by Angelman syndrome.

 

2008 – Foundation for Angelman Syndrome Therapeutics (FAST) was formed.

 

2011

- Dr Ben Philpot discovers how to activate the silent paternal genetic code on Chromosome 15 in a mouse.  

- The ASF funded Dr. Beaudet’s research in 2011 and 2013, where antisense oligonucleotides (ASOs) are shown to activate the paternal copy of the gene. Read more...

 

2012

– Dr Ed Weeber begins clinical trials in the USA with 24 children using Minocycline to treat cognition and motor function.

The Angelman Alliance formed in Europe and held its 1st Annual meeting in Rotterdam, Netherlands – Hosted by the Nina Foundation. Read more…

 

2013

– The FAST Integrative Research Environment (FIRE) Initiative was launched. Read more...

- A new informal global collective of AS organisations from many countries around the world joined forces to agree on a date and logo to commemorate an International Angelman Day – to be

held annually on 15th February. More on IAD.

 

2014 – The Minocycline trials are expanded in a phase II clinical trial in Spain, at the Hospital Puerta Hierro Maja

The Angelman Syndrome Alliance (ASA) is a partnership of small organizations from around the world that are focused on supporting people with Angelman Syndrome, their loved ones, carers and clinicians. By combining resources, knowledge and a relentless dedication to initiate change, the ASA is uniquely positioned to drive advances in scientific knowledge about Angelman Syndrome.

 

2016 - The Global Angelman Syndrome Registry is launched. It is funded by the Foundation for Angelman Syndrome Therapeutics (FAST) Australia.

 

2016 - Angelman Biomarkers and Outcome Measures Alliance (A-BOM) is a new alliance formed by both the Angelman Syndrome Foundation (ASF) and FAST (Foundation for Angelman Syndrome Therapeutics) in the USA, together with researchers and pharmaceutical corporations, to help move new treatments to the clinical trial phase. A-BOM includes scientists, foundations and corporations that are all working together to share in research, studies, trials and stories to help people with Angelman syndrome.

 

2017 - Ovid Therapeutics is recruiting adult patients with Angelman syndrome to a Phase 2 clinical trial of gaboxadol, a compound that aims to treat the disease by restoring lost inhibitory brain signaling.

 

2018: Results of the Minocycline studies were inconclusive and can be found here  and in this article: minocycline-fails-to-show-clinical-benefits-in-angleman-syndrome-patients/

 

For more recent updates, see Research News & Updates