28 Feb

Angelman Syndrome Foundation Awards More Than $104,500 in Grants to Help Further Research

The Angelman Syndrome Foundation is continuing its commitment to research by awarding two grants focused on the therapeutic treatment of symptoms typically found in individuals with Angelman Syndrome (AS).  The more than $104,500 in grants were awarded to Dr. Sarika Peters of the Baylor College of Medicine in Houston, Texas, and Dr. Keith Allen of the MunroeMeyer Institute at the University of Nebraska in Omaha, Neb.

Dr. Peters will use her grant funding to research the use of conventional or complementary and alternative medicine (CAM) treatments for problem behaviors in Angelman Syndrome. By conducting an anonymous Web-based survey, Dr. Peters hopes to reach a large number of participants quickly and efficiently. The goal of her research is to have her findings help both parents and providers sort through safe, affordable and effective treatment options in the absence of strong empirical support for conventional or CAM treatments of AS problem behaviors. Dr. Allen will conduct his grant-funded research by evaluating the use of an evidence-based behavior management regimen that describes how to address sleep problems in children with AS.

“The Angelman Syndrome Foundation is dedicated to funding quality research efforts focused on the causes and therapeutic treatments of Angelman Syndrome,” said Executive Director Eileen Braun of the Angelman Syndrome Foundation. “After comprehensive review by the Angelman Syndrome Foundation Scientific Advisory Committee (SAC) the Board of Directors unanimously approved grants for Dr. Allen, Dr. Peters and their research objectives.” Since its first $10,000 research award in 1996 the Angelman Syndrome Foundation has funded more than $2.5 million in research projects, with a majority of these funds ($2.2 million) being awarded within the last three years.

28 Feb

Angelman Syndrome Foundation Funds More Than $1 Million in Research Grants for 2009

The Angelman Syndrome Foundation further solidified its dedication to research by increasing its grant award total to more than $1 million for 2009. Most recently, more than $988,000 in grants was awarded to six principle investigators, focusing on Angelman Syndrome (AS) research.

Dr. Benjamin Philpot of the University of North Carolina in Chapel Hill, N.C.; Dr. John Marshall of Brown University in Providence, R.I.; Dr. Eric Klann of New York University in New York; Dr. Peter Howley of Harvard Medical School in Boston, Mass.; Dr. Yong-Hui Jiang of Duke University in Durham, N.C.; and Dr. Scott Dindot of Texas A&M University in College Station, Texas, were the most recent recipients. Each recipient’s proposal was reviewed by the Angelman Syndrome Foundation’s Scientific Advisory Committee and approved by the Angelman Syndrome Foundation’s Board of Directors.

The approved proposals aim to target a variety of research approaches including:

  • Identifying pharmacological interventions that up regulate the paternal expression of UBE3A through a large scale drug screen, which could yield the prototype of therapy for AS (Philpot)
  • Targeting the underlying cause of the cognitive symptoms of AS, to ensure treatments are effective (Marshall)
  • Determining critical information concerning the therapeutic potential of approved pharmaceuticals, such as clozapine, for treating those with AS (Klann)
  • Identifying the substrates and pathways for the neuronal pathogenesis underlying AS and how they function, to assist in the treatment of AS symptoms (Howley)
  • Understanding the function of isoforms to help define genotype-phenotype correlation in humans with AS (Jiang)
  • Identifying the E6-AP isoform regulating synaptic maturation in neurons (Dindot)

“Being able to offer more than $1 million in research grants this year further supports the Angelman Syndrome Foundation’s commitment to improving the lives of those with AS,” said Executive Director Eileen Braun of the Angelman Syndrome Foundation. “Even amid these tough economic times, our aggressive funding of research continues to build a path toa cure, and with continued generous support we will be able to award even more funding next year.”

Two grants already announced earlier this year, totaling more than $104,500, bring the organization’s total grant awards for 2009 to more than $1 million. The two earlier grants announced in August focus on the therapeutic treatment of behavioral and sleep issues typically found in individuals with Angelman Syndrome (AS).  These grants were awarded to Dr. Sarika Peters of the Baylor College of Medicine in Houston, Texas, and Dr. Keith Allen of the Munroe-Meyer Institute at the University of Nebraska in Omaha, Neb.

The Angelman Syndrome Foundation is the largest research funder specifically dedicated to this neurogenetic disorder. The Foundation recently announced the Angelman Treatment and Research Institute (ATRI), which will direct the organization’s research funding and foster collaboration with more than 30 organizations, researchers and scientists worldwide.

23 May

Natural History Study and Drug Trial of Levodopa at Boston Children’s Hospital

Angelman syndrome (AS) is a rare, neurogenetic condition characterized by severe developmental delay, movement disorder, speech impairment (often with a complete lack of speech) and an unusually happy demeanor. Nearly every individual with AS . . .

Read full article. 

10 Mar

Loss Of Enzyme Reduces Neural Activity In Angelman Syndrome

New work from Michael Greenberg, chair of the department of neurobiology at Harvard Medical School (HMS), provides insight into the mystery by showing that the lost enzyme, Ube3A, interacts with a key neuronal protein in order to control how environmental input shapes synaptic connections. In other words, loss of Ube3A interferes with the brain’s ability to use environmental experience . . . 

See the article in Science Daily now.

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