Category Archives: Uncategorized

04 Feb

International Angelman Day – 15 Ways to Celebrate

International Angelman Day – 15 Ways to Celebrate on February 15th

The Angelman Syndrome Foundation is excited to celebrate the first ever – International Angelman Day on February 15th.

To help raise awareness for Angelman syndrome across the world and in your hometown, the ASF has developed a list of 15 simple things you can do to contribute.
With your help, we can all give them a reason to smile.

  1. Contact a pediatrician in your area and make them aware of AS by sending them a link to the Facts About Angleman Syndrome page and FindtheAngels.org.
  2. Participate in an Angelman syndrome research study.
  3. Register for the ASF Walk and then email your friends to sign up and walk with you, making sure to attach the .pdf of the Facts About AS  to give them more information about AS.
  4. Ask to present to your child’s school on Friday, February 15—International Angelman Day—to talk about AS.
  5. Send a personal letter about Angelman syndrome and International Awareness Day to the editor of your local newspaper. You can request a sample letter from ASF by sending an email to info@angelman.org.
  6. Submit your child’s goals and objectives to the ASF Individual Education Plan (IEP) Bank and help other AS families across the globe plan a more meaningful IEP for their student with AS.
  7. Contact the therapists, teachers and support workers in your network and tell them about the Series on Angelman Syndrome Behaviors, and how this information can help your child/student with AS.
  8. Ask your friends to donate to your personal fundraising page for the ASF Walk.
  9. Show your appreciation for ASF-funded researchers by sending a thank you note.
  10. Send a Valentine to school, work or church filled with Angelman syndrome facts. You can check out our Pinterest board for ideas.
  11. Download the Facts About Angelman Syndrome handout and distribute to individuals who don’t already know about AS, or who ask about your child or AS.
  12. Submit a photo from a past ASF event for our Throwback Thursday feature on the ASF Facebook page by emailing us at webmaster@angelman.org.
  13. Purchase one of the items available in the ASF store to help promote Angelman syndrome awareness.
  14. Download the 2013 conference budget planner and start planning to attend the 2013 Biennial Conference in Orlando, FL on July 23 – 26, 2013.
  15. Share FindtheAngels.org with all of your friends and family.
12 Dec

Dan Harvey Named Scientific Advisory Committee Chair

Drug Discovery Expert Takes New Leadership Role in Determining Research Focus of the Angelman Syndrome Foundation

Angelman Syndrome Foundation selects renowned researcher to lead its Scientific Advisory Committee’s pursuit of research endeavors that improve quality of life for individuals with Angelman syndrome

The Angelman Syndrome Foundation (ASF) announced today that drug discovery expert and Dart NeuroScience Chief Operating Officer Daniel Harvey, Ph.D., has been selected to serve on the ASF board of directors and chair the ASF Scientific Advisory Committee (SAC).  The SAC determines the ASF’s research focus and projects that it will fund to drive breakthroughs in advancing the understanding and treatment of Angelman syndrome, a neurogenetic disorder similar to autism that occurs in one in 15,000 live births.

In his role as the SAC chairperson, Harvey will lead a 15-person committee comprised of academic and industry researchers and clinicians and experts in psychology, communications and education that evaluate research proposals submitted to the ASF for funding. In addition to reviewing research that seeks to improve treatments and find a cure for Angelman syndrome, the SAC plays a major role in the ASF’s annual scientific symposium, facilitating connections with researchers and promoting research initiatives. On the ASF’s board of directors, Harvey joins 11 other members, many of whom are parents of individuals with Angelman syndrome.

“With more than 20 years of experience in drug discovery research and organic chemistry, Dan Harvey will lead the SAC in continuing to implement a roadmap that effectively guides the ASF’s funding of proposed research initiatives toward therapies and a cure for Angelman syndrome,” said Tim McCarty, president of the ASF board of directors. “We are again thrilled with Dan Harvey’s contribution of time and expertise to the ASF, which will have positive implications for the entire Angelman syndrome community.”

Harvey has been involved with the ASF since his son was diagnosed with Angelman syndrome in 1996. From 1997 to 2001, he was a member of the ASF board of directors, served as vice president from 1997 to 1999, and chaired the SAC from 1999 to 2003.

“As a parent of an individual with Angelman syndrome, I have seen and experienced how ASF-funded research has changed lives and provided immense hope for individuals with Angelman syndrome and their families,” said Daniel Harvey, Ph.D. “I am honored to contribute to this incredible group of individuals on the SAC whose efforts in recent years, under the leadership of Dr. Charles Williams, have helped the ASF achieve remarkable milestones in advancing the understanding and treatment of Angelman syndrome. We are in an entirely new era for funding and research.”

Dr. Charles Williams, who is currently an ASF director, the immediate past SAC chair and a professor of pediatrics and medical genetics at the University of Florida, is a founding member of the ASF. Since ASF’s formation in 1992, he has served in several leadership roles. Williams chaired the SAC from its inception in 1994 until 1999 and again from 2008 to 2012, a time when many ASF-funded projects led to breakthroughs in Angelman syndrome research.

“Several ASF-funded research projects have led to pioneering discoveries about Angelman syndrome that have positively impacted the entire Angelman community including the ability to un-silence the UBE3A gene in mice with Angelman syndrome, uncovering the possible root cause of seizures in individuals with Angelman syndrome, and a low-glycemic index therapy to reduce seizures, a potentially life-threatening symptom that occurs in 90 percent of individuals with Angelman syndrome,” said Williams. “This is a remarkable time in Angelman syndrome research and I look forward to continuing my involvement in the ASF by serving both as a board member and as a member of the SAC.”

Since its formation in 1992, the ASF has funded a diverse set of 66 research projects at more than 37 research institutions. The ASF has awarded $4.6 million in research grants, $4.3 million of which have been granted since 2005.

ABOUT THE ANGELMAN SYNDROME FOUNDATION
The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties.  The ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery.  Since 1996, the ASF has funded 66 research grants totaling more than $4.6 million.  The ASF has awarded a majority of these funds ($4.3 million) beginning in 2005.

22 Oct

Angelman Syndrome Clinic Opens at Massachusetts General Hospital

Second Angelman Syndrome Clinic Opens at Massachusetts General Hospital

Comprehensive Support for Individuals with Angelman syndrome from Infancy through Adulthood

BOSTON, October 23, 2012 – Massachusetts General Hospital (MGH), MassGeneral Hospital for Children and the Angelman Syndrome Foundation (ASF) announced today the opening of the Angelman Syndrome Clinic, one of only two in the country.  The facility—made possible through a partnership between MGH and MassGeneral Hospital for Children and the ASF—is focused on serving the comprehensive medical needs of individuals with Angelman syndrome.  With the creation of the clinic, individuals with Angelman syndrome and their families can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation.  The Angelman Syndrome Clinic is unique as it can leverage the variety of expertise and specialized care available at MGH to help individuals with Angelman syndrome from infancy through adulthood.

“Individuals with Angelman syndrome have extreme challenges obtaining the care they need as they grow into adults.  MGH is uniquely positioned to provide services to this portion of the population and their families,” said Dr. Ron Thibert, DO, MsPH, and co-director of the Angelman Syndrome Clinic at MassGeneral.  “Our partnership with the ASF has allowed us to further meet these needs and provide the comprehensive medical services that improve patient and families’ quality of life.”

Occurring in one in 15,000 live births, Angelman syndrome is a congenital disorder often associated with 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 improperly and causing deficits in development.  Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures, walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

The purpose of the Angelman Syndrome Clinic is to reduce the frequency and severity of Angelman syndrome symptoms, particularly seizures, and to develop dietary regimens for individuals that further assist in the reduction of symptoms.  Furthermore, the clinic has the unique ability to enhance education and learning for individuals with Angelman syndrome, thus helping them achieve their full developmental potential.  With the ultimate goal of improving quality of life for individuals with Angelman syndrome, the 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 all specializing in Angelman syndrome.

“Partnerships, such as the one we are announcing with MGH, enable the Angelman Syndrome Foundation to provide direct support and access to resources that individuals with Angelman syndrome and their families need,” said Tim McCarty, president of the ASF’s board of directors.  “The MGH staff care deeply about helping improve quality of life for individuals with Angelman syndrome and it is through research spearheaded by MGH that several advancements have been made in helping enhance quality of life for those with Angelman syndrome and their families.”

Earlier this year, Dr. Thibert announced that a low-glycemic index treatment (LGIT) for individuals with Angelman syndrome has proven successful in significantly reducing seizures by up to 90 percent in most individuals on the diet.  Often a life-threatening symptom, this dietary treatment is relatively easy to implement and interferes little, if at all, with other treatments prescribed for other symptoms.  The LGIT study was funded in part by the ASF.

The Angelman Syndrome Clinic is located at MGH’s main campus at 55 Fruit St., Boston, Mass. 02114.  Elias Shaaya is the clinic coordinator and can be reached by contacting patient services coordinator Veronica Robinson at 617-726-6540.

For more information about MGH, please visit www.massgeneral.org.

ABOUT MASSACHUSETTS GENERAL HOSPITAL
Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine. In July 2012, MGH moved into the number one spot on the 2012-13 U.S. News & World Report list of “America’s Best Hospitals.”

03 Aug

Reducing Seizures in Angelman Syndrome

Dietary Treatment Proven Successful in Reducing Seizures in Angelman Syndrome by up to 90 Percent

The Angelman Syndrome Foundation (ASF) is very excited to announce today that clinical research published in Epilepsia on July 10 has found that a low glycemic index treatment (LGIT) is successful in reducing seizures in individuals with Angelman syndrome. Seizures are a potentially life-threatening symptom that 90 percent of individuals with Angelman syndrome experience and are very difficult to treat. The research, which was funded by the ASF, has widespread, positive implications for the Angelman syndrome community because of the relatively low risk and ease of implementing this type of dietary treatment regimen, particularly compared to other more stringent dietary treatments.

“The purpose of our research was to assess the effectiveness of the LGIT’s high-fat, low-carb diet for the treatment of seizures in pediatric patients with Angelman syndrome, and the research was even more successful than we had anticipated,” said Dr. Ron Thibert, D.O., neurologist and pediatrician at Massachusetts General Hospital, and leader of the group that embarked on this clinical research study. “This was the first study assessing LGIT for this use in this population and the results are very exciting, particularly because the similar ketogenic diet is very strict and difficult to maintain on a daily schedule, and while it can provide similar results, it can also create additional side effects. We are thrilled that the LGIT can provide even more hope for families of individuals with Angelman syndrome.”

The LGIT is a high-fat, limited-carbohydrate diet that was administered to six children with Angelman syndrome, ranging from one to five years of age, for a period of four months. All participants experienced a decrease in seizure frequency, with five of the six exhibiting a more than 80-percent reduction, and all experienced no significant adverse effects. Five of the six participants remained on the LGIT after completion of the trial, and after one year, experienced a 90-percent reduction. A neurologist and dietician conducted clinical examinations before and during the trial, which also included electroencephalography (EEG) and neuropsychological assessments. These assessments also indicated improvement, or a decrease, in seizure activity.

“In addition to seizure reduction, parents also noted developmental gains, and although these gains were not statistically significant on neuropsychological assessment, it illustrates the effectiveness of this treatment and may indicate its compatibility with treatments for other symptoms or effects of Angelman syndrome,” said Thibert. “Furthermore, the results indicate a potentially higher degree of effectiveness for LGIT for the Angelman syndrome population than that observed in the general epilepsy population.”

The staples of the LGIT diet are meats and cheeses, which provide a higher fat intake and lower carbohydrate intake, as well as select fruits and vegetables. The purpose of the diet is to reduce the total carbohydrate intake and consume carbohydrates that have less sugar, which ultimately helps keep patients’ insulin levels stable and low. The LGIT does not require special preparation of the foods used.

“We are thrilled with the results of this clinical study, as our ultimate goal is to fund research that seeks to improve the quality of life of individuals with Angelman syndrome,” said Eileen Braun, executive director of the ASF. “Families who are interested in learning more about this study are welcome to contact our office, and we will put them in touch with the appropriate resources to further explore this possible treatment.”

The LGIT clinical research study was conducted by Ronald L. Thibert, Heidi H. Pfeifer, Anna M. Larson, Annabel R. Raby, Ashley A. Reynolds, Amy K. Morgan and Elizabeth A. Thiele at the Department of Neurology, Pediatric Epilepsy Program at Massachusetts General Hospital.

For more information about this research study, please contact the ASF at info@angelman.org or 800-432-6435, or contact Massachusetts General Hospital’s Pediatric Epilepsy Program.

21 May

Possible Cause of Seizures in Angelman Syndrome

Research Reveals Possible Root Cause of Seizures in Autism-related Angelman Syndrome

Research published on June 6th in the scientific peer-reviewed journal Neuron has discovered the possible underlying cause of seizures in individuals with Angelman syndrome, a neuro-genetic disorder similar to autism that occurs in one in 15,000 live births. Seizures are a potentially life-threatening symptom that 90 percent of those with Angelman syndrome experience.  Funded by the Angelman Syndrome Foundation (ASF), the research was conducted by a team of scientists at the University of North Carolina (UNC) at Chapel Hill. The team’s leader, Ben Philpot, Ph.D., professor of cell and molecular physiology at UNC, was also the research lead on the discovery announced in December 2011 about a potential treatment for Angelman syndrome using drugs currently used in the treatment of cancer.

“Our goal with this research was to identify brain defects that might contribute to cognitive impairments or seizures that people with Angelman syndrome experience. The ultimate goal of this research is to help identify treatments to improve cognition and prevent seizures from occurring, as seizures experienced by individuals with Angelman syndrome are very difficult to treat,” said Philpot. “Individuals with Angelman syndrome already experience atypical neuronal developmental; however, this study specifically revealed how a dramatic imbalance between neuronal excitation and inhibition may contribute to cognitive impairments and seizures in Angelman syndrome.”

Angelman syndrome is a congenital disorder causing 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 development delay, lack of speech, seizures, and walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

Using electrophysiological methods to record neuronal activity in mice with Angelman syndrome, the team at UNC found defects in the neurotransmitter signals sent from inhibitory neurons to decrease activity in excitatory neurons. A balance between inhibitory and excitatory neurons is essential for proper neuron function, yet individuals with Angelman syndrome experience an imbalanced decrease in both neurons’ activities. However, this research discovered a disproportionately large decrease in inhibition compared to a smaller decrease in excitation, creating a hyper-excitable state that is believed to contribute to seizures in many individuals in Angelman syndrome. This fluctuating, improperly regulated brain activity might also underlie cognitive impairments in Angelman syndrome.

“For families of individuals with Angelman syndrome, this is incredible news because seizures are a major concern, as sadly they have claimed the lives of many loved ones with Angelman syndrome,” said Eileen Braun, executive director of the ASF. “The Foundation was founded to provide families with direct support and aid important research endeavors, and today’s announcement is a direct reflection and accomplishment of our mission. The Foundation is committed to helping ensure that this research—as well as other important research initiatives—continues so that ultimately quality of life is improved for individuals with Angelman syndrome.”

Organizations such as the National Institute of Neurological Disorders and Stroke, the Simons Foundation, the National Eye Institute, and the National Institute of Mental Health granted the UNC team additional funds for the project. The research was conducted at UNC’s Carolina Institute for Developmental Disabilities in the Department of Cell and Molecular Physiology by Michael L. Wallace, Alain C. Burette, Richard J. Weinberg and Benjamin D. Philpot, Ph.D.

21 Mar

Possible Treatment for Angelman Syndrome

Research Reveals Possible Treatment for Autism-related Angelman Syndrome

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. By creating the motivational environment and access to resources that launched this research initiative in 2009, the Angelman Syndrome Foundation (ASF) is enthusiastic about the results of the work conducted by a team of scientists and doctors at the University of North Carolina (UNC) at Chapel Hill. The research, which is being continually funded by the ASF, has revealed that drugs currently used in the treatment of cancer may also be useful in treating Angelman syndrome.

“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 and one of the lead researchers behind this project. “The ASF provided the initial seed grant to launch this research project, and after countless hours of research and lab testing, our team has discovered a unique approach that may help treat individuals with Angelman syndrome and help them lead normal lives.”

Angelman syndrome is a congenital disorder causing 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 development delay, lack of speech, seizures, and walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

“This discovery is groundbreaking for the entire Angelman syndrome community, creating a sense of hope for individuals with Angelman syndrome, their families and caregivers that we have previously never experienced,” said Eileen Braun, executive director of the ASF. “This is exactly why the ASF was founded: to provide support for those affected by Angelman syndrome and to fund research that will lead to scientific breakthroughs such as today’s news. We are optimistic about the future and are looking forward to seeing what the next phase of this research uncovers.”

Through the research conducted, and 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. The researchers then further experimented with those compounds with chemical derivatives of each compound to further enhance and target the intended affect of awakening the Ube3a gene.

“We have an exceptional team of 15 scientists, doctors and researchers at UNC who have spent the last three years focused on this project,” said Philpot. “Thanks to the intellectual ability, curiosity and experience of our team, and the in-house availability of technology and equipment at UNC that is usually only found at major pharmaceutical companies, we have made a significant advancement that will now lead us to the next phase.”

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. Since the compounds that were found effective in activating the Ube3a gene are similar to drugs used to treat cancer and can be found in chemotherapy treatments, side effects may be similar to those experienced by individuals being treated for cancer, necessitating further research.

The ASF provided the initial grant in 2009 of $200,000 to launch this research and drug discovery endeavor. Organizations such as the Simons Foundation, the National Institutes of Health (NIH), and others then granted the UNC team additional funds for the project. In September 2011, the ASF granted another $400,000 to the research team for further drug discovery research and pre-clinical investigational work, creating a cumulative total of more than $3.6 million in grants to date. The research was conducted at UNC’s Carolina Institute for Developmental Disabilities in the Department of Cell and Molecular Physiology. Ben Philpot, Ph.D., Mark Zylka, Ph.D., and Bryan Roth, M.D., Ph.D. led the project with peer researchers Hsien-Sung Huang, John A. Allen, Angela M. Mabb, Ian F. King, Jayalakshmi Miriyala, Bonnie Taylor-Blake, Noah Sciaky, J. Walter Dutton Jr, Hyeong-Min Lee, Xin Chen, Jian Jin, and Arlene S. Bridges.

01 Mar

Dr. Ian King Research Fellowship Recipient

ASF Announces Research Fellowship Recipient

The Angelman Syndrome Foundation’s dedication to research is again today front and center for the Foundation with today’s announcement of the first Joseph E. Wagstaff Postdoctoral Fellowship. Dr. Ian King, University of North Carolina-Chapel Hill, is the first recipient of this prestigious two-year fellowship award.

“It is a tremendous honor to be the first recipient of the Wagstaff postdoctoral fellowship and I am extremely grateful to the ASF for this award – it will be a huge boost to our research toward a potential new pharmaceutical treatment for the root cause of AS. Research funds are always scarce, and this generous award puts my work on solid footing for an extended time. It’s really exciting to be involved with a project that has the potential to pioneer a new approach to treating AS, and I’m really pleased that the ASF finds the work we’re doing as exciting and promising as we do” said Dr. Ian King, 2011 Wagstaff Fellowship recipient.

About the award
This is an award funded by the Angelman Syndrome Foundation (ASF). The Dr. Joseph E. Wagstaff Postdoctoral Fellowship Award is a two-year fellowship awarded for studies in preclinical, translational and clinical research areas that investigate all aspects of Angelman syndrome. The purpose of this award is to:

  • Promote Angelman syndrome-related research in a young investigator
  • Support novel or innovative research initiatives
  • Further support and encourage existing Angelman-related research projects

All post-doctoral research applications considered for funding by the ASF are reviewed by the ASF Scientific Advisory Committee (SAC). This committee is comprised of researchers, physicians and other professionals from both academia and industry who have expert knowledge on Angelman syndrome. Funding is $55,000 for each of the two years, for a total funding amount of $110,000.

“Awarding this first fellowship is an important milestone in ASF’s research funding because the Wagstaff award enables young, talented investigators to work more closely within the sphere of the Angelman community. The Wagstaff award now expands ASF’s research funding to include young as well as established researchers, and new treatment successes for those with Angelman syndrome depends on the work of these committed scientists” said Dr. Charles Williams, ASF SAC Chair.

Dr. King’s fellowship work at UNC-Chapel Hill will be overseen by his mentor, Dr. Mark Zylka, Assistant Professor, Department of Cell and Molecular Physiology. “Through almost daily conversations with Dr. Ben Philpot, a current ASF grant award recipient, I learned about Angelman syndrome and the acute need for treatments for this lifelong genetic disorder. These informal discussions lead to a highly productive scientific collaboration with Dr. Philpot and Dr. Bryan Roth (who is also at UNC). Our collaborative work at UNC has blossomed with the discovery of a small molecule (UNCilencer1) that epigenetically regulates expression of Ube3a in cultured cells and in animals. I feel deeply honored to have the spotlight of the ASF shine on our lab with the awarding of the first Wagstaff Postdoctoral Fellowship to Dr. Ian King. With this fellowship support, Ian can continue and accelerate his groundbreaking research on a new small molecule that potently regulates expression of Ube3a in neurons.”

About Dr. Joseph E. Wagstaff
Dr. Joseph E. Wagstaff was a consummate pediatrician, medical geneticist and researcher. As much as anyone in the world, he advanced the scientific understanding of the Angelman syndrome (AS). He also diagnosed and treated scores of children and adults with AS and selflessly gave of his time to provide much needed counsel to their families. Dr. Wagstaff was also an invaluable contributor to the Angelman Syndrome Foundation (ASF) and his work on the Scientific Advisory Committee was instrumental in soliciting and evaluating the high caliber of scientific proposals that ASF and ATRI are proud to fund.
Dr. Wagstaff dedicated his life to the benefit and compassionate care of his patients and support of their families. Through the Joseph E. Wagstaff Postdoctoral Fellowship Grant, ASF seeks to honor Dr. Wagstaff’s legacy by supporting clinical and basic science research on the Angelman syndrome.

The Joseph E. Wagstaff postdoctoral Fellowship has been fully funded through the generosity of the Schiller Family Foundation. “We see the Joseph E. Wagstaff Postdoctoral Fellowship 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”, 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. “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.

01 Mar

Collaborative Research Partnership Announcement

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
403-931-4237
cass@davincibb.net

01 Mar

First Angelman Syndrome Clinic

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

Inaugural Wagstaff Fellowship

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.