​

Research Timeline for Angelman Syndrome

 

20th Century:

 

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 

​

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 in the USA.

 

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. 

 

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. 

-  An informal global collective of 31 AS organisations from 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 in IAD.

 

2013

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

 

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

​

​