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A Perspective from Dr. Edwin Weeber, Ph.D, a leading scientific researcher for Angelman Syndrome:

What Is Angelman Syndrome?

Angelman Syndrome (AS) is a rare genetic disorder that occurs in one of every 15,000–20,000 births and represents one of the most severe forms of Autism Spectrum Disorder. Children with AS show severe cognitive delay, problems with walking and movement, hyperactivity, sleep problems, and often have associated epilepsy. Children with AS almost always exhibit an overall happy disposition, but rarely talk or say more than a few words.

What is the history of AS Research?

Angelman syndrome was first identified more than 40 years ago by Dr. Harry Angelman; however the cause of AS was discovered relatively recently in 1998. Angelman Syndrome is caused by the disruption of a single gene, the UBE3A gene. Angelman Syndrome is unlike other forms of Autism, which involve numerous genes, environmental factors and developmental alterations. Identifying AS as a single gene disorder also facilitated in the production of a mouse model for AS. This mouse model was created by causing the identical disruption of the mouse UBE3a gene. Importantly, this mouse model exhibits many of the characteristics of patients with AS, including seizure, motor coordination defects and cognitive disruption.

What is the relevance of a mouse model?

In the ten years following the development of the AS mouse model a number of important breakthroughs have been made that have serious implications for the possible treatment and potential cure for AS. The first was the genetic cure of the mouse model in 2006. This research showed that all of the major symptoms could be treated by simply changing the activity of a single enzyme in the brain. The second breakthrough was the treatment of the mouse model by replacing the missing ube3a gene a gene therapy approach. This research showed that AS is not developmental and a treatment in patients already diagnosed with AS was possible. Finally, it has been shown that the many of the symptoms in the AS mouse model can be treated with an FDA approved drug. This reveals the possibility that drugs may already be available and useful in the treatment of AS, but only if they can be identified.

Why is there hope for a cure?

There is now more scientific research being performed on Angelman Syndrome than ever before. Top researchers from some of the best laboratories in the country are now focused on better understanding how this single gene can cause such a devastating disorder. Many of these researchers believe that unraveling the mysteries of AS and finding an effective treatment may hold the key to understanding other cognitive disorders, such as Autism, fragile X mental retardation, Retts and Alzheimer’s disease. Each of these breakthroughs described above with the AS mouse strongly support the capability for a therapeutic to have profound results for patients with AS, yet it remains unclear how effective therapeutics may be in human Angelman Syndrome. The creation and mission of the Foundation for Angelman Syndrome Therapeutics is to raise funds sufficient to take therapeutic strategies from the laboratory to the patient as quickly as possible. Specifically, identify currently available drugs and bring them to clinical trial, facilitate in the development of novel drugs for eventual clinical trial and fund cutting edge research that has the ability to lead to a therapeutic.

Why donations really, really matter...

Funding for AS is woefully small despite the increased interest in AS, recent scientific advances and the potential for insight into other diseases. The National Institutes on Health (NIH) will fund research for over 2.5 billion dollars in the area of aging, and 246 million is projected for Alzheimer’s disease alone for 2012. Angelman Syndrome is grouped with other rare human disorders and has no ear marked funding for 2012.