Angelman

News Room

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Angelman Syndrome Foundation's News Room is an aggregation of several sources. We will post exciting announcements pertaining to ASF in addition to news about Angelman syndrome from within our community and from external media sources. See a story you think we should share? Send an email to tips@angelman.org with the information. Thank you!

University of North Carolina Home to First-of-its-Kind Clinic in Nation
February 3, 2012
By Eileen Braun, Executive Director
Comments(11)

The Angelman Syndrome Foundation (ASF) announced today the official opening of the first clinic in the nation focused on serving the medical and psycho-educational needs of individuals with Angelman syndrome. The Comprehensive Angelman Syndrome Clinic is the result of a partnership forged with the ASF and the Carolina Institute for Developmental Disabilities (CIDD) at the University of North Carolina (UNC). At this model clinic, individuals with Angelman syndrome and their families will, for the first time, be able to visit multiple subspecialists in one setting to access the resources they need instead of having to visit multiple clinics across the nation. The initial funding for the clinic was provided by the ASF.

Tags: ASF News, Angelman syndrome, Research
Family Awarded $60,000 For 'Kate's Kause'
January 27, 2012
By The Record

An Elmira family’s project to build an accessible playground got a $60,000 boost from winning a national competition. Kate’s Kause was started by Kelly and Jeremy Meissner in honour of their daughter Kate, who has the rare genetic disorder Angelman syndrome. The couple wanted a place where all children can play regardless of limitations.

Tags: AS News, Angelman syndrome
An Appeal to the AS Community
January 12, 2012
By Eileen Braun, Executive Director
Comments(10)

As many of you are aware, a recent scientific discovery published in the journal Nature demonstrated that topoisomerase inhibitors have the ability to awaken the dormant paternal copy of UBE3A. This discovery is exciting because it suggests that activating the paternal copy of the gene might be able to compensate for the defective maternal copy. Thus, topoisomerase inhibitors have the potential to be an Angelman syndrome therapeutic. However, there is still much work needed to determine when, and even if, a clinical trial with topoisomerase inhibitors is warranted for the treatment of Angelman syndrome.

Tags: ASF News, Angelman syndrome, Research
Research Reveals Possible Treatment for Autism-related Angelman Syndrome
December 21, 2011
By Eileen Braun, Executive Director
Comments(9)

Research published today in the scientific peer-reviewed journal Nature has discovered a potential treatment for Angelman syndrome, a neuro-genetic disorder similar to autism that occurs in one in 15,000 live births.

Tags: ASF News, Angelman syndrome, research, Autism
A Message From ASF's Executive Director
December 9, 2011
By Eileen Braun, Executive Director
Comments(0)

Recently, there has been an increase in dialog about the Angelman Syndrome Foundation and our commitment to support the community of people affected by Angelman Syndrome. While we respect everyone’s right to their opinion as well as their right to express it, we also cannot stand by and allow inaccuracies to go unmet. And, while we believe it is most appropriate not to respond publicly to these kinds of comments, in this case, given the nature of some of these comments we have chosen to express our position.

Tags: ASF News, Angelman syndrome, Research, Science

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