01 Mar

New Angelman Research Collaborative Partnership Announcement

The Canadian Angelman Syndrome Society (CASS) and Angelman Syndrome Foundation (ASF) today formally announce a collaborative research partnership to fund the Expert Panel on Challenging and Difficult to Treat Behaviors in Angelman Syndrome (AS). This collaborative initiative was further strengthened and supported by the generosity of Renee and Fred Pritzker, St. Paul, MN.

Regarding their desire and determination to support these research initiatives, Michel Longtin, CASS President remarked, “CASS supports the initiatives of the Panel on Challenging and Difficult to Treat Behaviors in AS toward the goal of establishing a structure for future research to the benefit of AS individuals, their families, and caregivers. We feel that this research will lead to providing families affected by AS with coping mechanisms that will enhance family life. “

The expert behavioral panel, chaired by behavioral expert Dr. Jane Summers, was convened to provide practical guidelines that assist in the overall management of challenging and difficult to treat behaviors in AS. The results of the panel’s work will be widely accessible, made available through practical and user-friendly formats, and will include web-based presentation in both written and video formats. Key areas the panel will consider will be:

  • Aggression
  • Non-compliance
  • Refusal
  • Self-injurious behaviors
  • Attention-seeking behaviors
  • Externalizing behaviors that place self and others at risk
  • Evidence-based usage of medication in the AS population and how to evaluate effectiveness.

Panel members include:
Jane Summers, PhD, Chair, McMaster University, Hamilton, Ontario, Canada
Sarika Peters, PhD, Vanderbilt University, Nashville, TN
Ronald Thibert, D.O., Massachusetts General Hospital, Boston, MA
Chris Oliver, PhD, Birmingham University, Birmingham, United Kingdom
Steven Calculator, PhD, University of New Hampshire, Durham, NH
Craig EricksonPhD, Riley Children’s Hospital, IUPUI, Indianapolis, IN
Logan Wink PhD, Riley Children’s Hospital, IUPUI, Indianapolis, IN
Anna Larsen, Adult Issues Study Coordinator, Massachusetts General Hospital, Boston, MA

Regarding the establishment of the expert group, Behavioral Panel Chair, Dr. Jane Summers, shares:“At one time or another, many families of individuals with Angelman syndrome have struggled to cope with challenging and difficult to manage behaviors. These behaviors can have a major impact on family life and also prevent the individual from participating fully in activities at home, school or in the community. Practical, well thought out and timely advice could make a major difference in these types of situations but has not been widely available to most families and care providers. The Expert Panel for Challenging and Difficult to Treat Behaviors has been established to address this need. This internationally renowned panel is made up of neuroscientists and clinicians with expertise in Angelman Syndrome. Together, they bring a variety of perspectives and a depth of experience to the project. The ultimate goal of the panel is to enhance the lives of individuals with AS and their families through the provision of guidelines that outline approaches to understand and address challenging behavior, identify evidence-based intervention strategies and provide practical recommendations about how to implement these. The panel will seek additional collaboration and consultations regarding adult studies, learning, and other neurodevelopmental disorders, as needed.”

“The Angelman Syndrome Foundation has a long-standing history of funding innovative and provocative research. We have gained phenomenal insights into the causative mechanisms of AS and the function of UBE3A. We are keenly aware of the day-to-day and long-term struggles families and care providers face when dealing with challenging and difficult to treat behaviors. These behaviors do not simply vanish over time. The ASF is pleased to support this collaborative research effort with CASS, and with the support of the Pritzker Family, to be able to equip our families with practical guidelines and techniques to effectively manage behaviors in their individuals with AS. We eagerly look forward to the work and results of this expert panel,” said Eileen Braun, Executive Director, ASF.

Research continues to grow and accelerate through the ASF and CASS because of the dedication and support of those who have demonstrated personal and financial commitment to our collaborative research efforts. This is no more readily apparent than by the support of Renee and Fred Pritzker. Their generous gift is dedicated to and is on behalf of their son with AS, Jacob Pritzker.

“Jake has taught us most of what we know about the great joy and complexity of loving a person with disabilities. Jake is also a pioneer. He is one of the first students in our school district with significant disabilities to have gone from pre-school to graduation in an inclusive setting. Currently, he holds down two jobs, enjoys a rich social life and has learned to swim (without a floatation device). His growth and development mirrors the progress that scientists have made in unlocking the secrets underlying AS (that will eventually lead to its treatment and cure). But as in any complex endeavor, advancement of knowledge reveals even more complexity and a keener awareness of just how difficult the endeavor will be.

The fact is, we don’t have all that much understanding about the emotional, behavioral and physiologic changes people with AS encounter as they age. Improving the lives of people with AS is more challenging than funding bench science and genetic research. Think about it: the variability and complexity of behavior is far greater than the genetic mechanism that triggers it. Our debt to our sons and daughters to improve their lives is as great as our wish to prevent this disorder from affecting future generations. This is why we are proud to contribute to the ASF Expert Panel on Challenging and Difficult to Treat Behaviors in AS.”

~Fred and Renee Pritzker

CASS and ASF would also like to acknowledge the tremendous effort of one of CASS’s board members, Heidi Blackburn, whose fundraising has largely made this expert behavioral panel possible. Heidi and Alistair Blackburn’s son Callum (AS) is the inspiration for the tremendous effort she puts into fundraising for AS research.

For further questions regarding CASS and ASF-supported research, please contact the Angelman Syndrome Foundation:
800-432 6435

Canadian Angelman Syndrome Society
John Carscallens
P.O. Box 37
Priddis, Alberta T0L 1W0 Canada

01 Mar

University of North Carolina Home to First-of-its-Kind Clinic in Nation

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.

“In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as Angelman syndrome. Today’s announcement marks a major milestone for the Angelman syndrome community,” said Dr. Joe Piven, Director of the Comprehensive Angelman Syndrome Clinic. “Thanks to the leadership of the Angelman Syndrome Foundation, we are able to see partnerships such as this come together for the benefit of those with Angelman syndrome and their families. Having access for specific care and support at one state-of-the-art facility will be most beneficial.”

Occurring in one in 15,000 live births, Angelman syndrome is a congenital disorder similar to Autism that causes severe neurological impairment that appears in newborns and lasts for a lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning incorrectly and causing deficits in development. Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures, and walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

The Comprehensive Angelman Syndrome Clinic provides “one-stop-shop” access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist whom all specialize in Angelman syndrome.

Throughout the grand opening ceremonies today, researchers and families joined together to witness a check presentation of $38,855 from the ASF to the Clinic, which represented a total of more than $900,000 that the ASF has provided to the UNC and CIDD in the form of familial medical support and research grants. Mrs. North Carolina 2011, Jessica Harvey, joined the ceremony, whose sister-in-law has Angelman syndrome and is a strong national advocate for the Angelman syndrome community.

“Three years ago I attended a scientific symposium hosted by the ASF, and after meeting with families of individuals with Angelman syndrome and networking among the Angelman syndrome community, I was inspired to conceptualize a research and drug discovery project that would identify how to restore proper function to the gene that causes Angelman syndrome,” said Ben Philpot, Ph.D., a scientist at UNC. “The ASF provided the initial seed grant to launch this research project, and after countless hours of research and lab testing, our team discovered a unique approach that may help treat individuals with Angelman syndrome and help them lead normal lives. In my view, this clinic is just as important as the research to the families across the country who live with Angelman everyday while our research continues, which we hope will be able to move into the clinical trial phase in the next few years after we complete current testing in mouse models.”

The research conducted by Philpot’s team at UNC found that, for the first time in history, a drug compound has been used to restore proper function of the Ube3a gene. Since improper function, or “silence,” of the Ube3a gene is what has been determined to be the cause of Angelman syndrome, restoring proper function of the dormant Ube3a gene represents a possible therapeutic approach for treating the disorder. Using a unique process of screening more than 2,000 drug compounds through brain neurons – an extremely rare undertaking – 16 “unsilencing” compounds were discovered using a mouse model. Conducting pre-clinical trials is the next step in evaluating how to make this treatment available to individuals with Angelman syndrome, which is essential to determining the right compound, the right dosage and the right delivery method prior to conducting clinical trials.

“During the past 20 years, our foundation has focused its mission on providing tangible, accessible support for individuals and their families, and this clinic is another representation of our mission,” said Eileen Braun, executive director of the ASF. “To have a clinic such as this providing a comprehensive level of service for the Angelman syndrome community is very meaningful in a variety of ways. Opening the clinic today, on the heals of the recent research announcement last month by UNC, is exciting for our foundation, families, friends and supporters across the nation.”

The Comprehensive Angelman Syndrome Clinic is located at 101 Renee Lynne Court, Chapel Hill, N.C. 27510. To schedule an appointment or to learn more about the clinic, individuals can call Christie Turcott, clinical coordinator, at 919-966- 2074 or visit http://www.cidd.unc.edu/Angelman-Syndrome/.

Inaugural Wagstaff Fellowship
29 Feb

Schiller Family Foundation Fully Funds Inaugural Wagstaff Fellowship

The Angelman Syndrome Foundation receives generous $110,000 gift from the Schiller Family Foundation to fully fund the inaugural Joseph E. Wagstaff Postdoctoral Fellowship. This unprecedented and extraordinary gift will honor the legacy of esteemed pediatrician, geneticist, and researcher, Dr. Wagstaff, by fostering a new generation of young scientists dedicated to the pursuit of Angelman-specific scientific discovery.

Schiller Family

“We saw this as a wonderful  opportunity to pay tribute to a man whose devotion and commitment to individuals with Angelman syndrome and their families is simply unparalleled. He touched the lives of so many that we felt inspired and compelled to honor him by investing in future Angelman syndrome scientists through the Joseph E. Wagstaff Postdoctoral Fellowship,” commented Robert Schiller, President, Schiller Family Foundation. Both Robert and Deborah Schiller felt strongly that the fellowship offers a ground-breaking and new approach that will help the Angelman Syndrome Foundation attract the very best young researchers to the field of AS study. “As the parents of a ten-year old son with Angelman syndrome, we value the work being conducted by scientists and believe that by investing in them, we are investing in a future where a cure for Angelman syndrome will be discovered. The Joseph E. Wagstaff Postdoctoral Fellowship offers the perfect vehicle for us to achieve this bold vision,” said Deborah Schiller, Vice President, Schiller Family Foundation.

“We could not be more thrilled to accept this remarkable gift that allows us to honor the past while investing in the future,” said Eileen Braun, Executive Director, Angelman Syndrome Foundation. “We are touched and flattered that the Schiller Family Foundation has entrusted Angelman Syndrome Foundation with the responsibility and obligation to use the gift in a manner that will carry forward the work and passion of Dr. Wagstaff  through the minds and talents of young scientists just starting their careers in Angelman syndrome research. This gift will not only help us fully fund the inaugural Joseph E. Wagstaff Postdoctoral Fellowship, but will also help us attract additional  financial resources to sustain Dr. Wagstaff’s legacy over a much longer horizon,” Ms. Braun went on to state.

“Angelman syndrome research is advancing at an unprecedented pace, but for the eventual realization of Angelman therapeutics, it is essential to encourage new promising researchers with cutting-edge approaches to join the field. The Joseph E. Wagstaff Postdoctoral Fellowship offers such hope, by providing funds for a postdoctoral fellow to enhance innovations and discoveries in Angelman syndrome,” commented Ben Philpot, Ph.D., Angelman Syndrome Foundation Scientific Advisory Committee Member.

The first call for research fellowship proposals was issued on December 6, 2010. The Joseph E. Wagstaff Postdoctoral Fellowship will be awarded for a two-year period funded at $55,000 per year. Funding and support for the Joseph E. Wagstaff Postdoctoral Fellowship is in addition to on-going research funding that has been approved for distribution by the Angelman Syndrome Foundation Board of Directors for the 2011 fiscal year. The fellowship award will be based upon competitive proposal submissions and peer reviewed by the Angelman Syndrome Foundation Scientific Advisory Committee.

About the Schiller Family Foundation, Inc. The Schiller Family Foundation, Inc, is a private foundation located in Jacksonville, Florida. Established in 2008 resulting from the sale of Armor Holdings, Inc., the foundation does not accept unsolicited proposals. Gifts and grants are allocated to cause-related non-profit organizations that align with the interests and priorities of foundation officers.

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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