11 May

2016 Walk Receives Local Coverage in Utah

The Deseret News in Utah published a story on ASF Walk Coordinator, Michelle Gilbert, and her son Aiden.

Aiden Gilbert is a happy 11-year-old from South Jordan. He likes to spend time with his family, and he is very social.

“He is a really fun kid,” said his mother, Michelle Gilbert. “It’s just a real joy to interact with him.”

When he was almost 2 years old, Aiden was diagnosed with Angelman syndrome . . .

See the full Deseret News article here.

20 Apr

Research has answered some questions about UBE3A’s role in seizures

ASF-funded research conducted at Dr. Ben Philpot’s lab at the University of North Carolina-Chapel Hill has answered some questions about UBE3A’s role in seizures in individuals with Angelman syndrome, and also illustrated additional work that needs to be done.

Published in the prestigious research journal, Neuron, the research sought to answer the question: how are seizures affected by where—not just when—UBE3A is expressed in the brain?

The research team, led by Matt Judson, PhD in Philpot’s lab, found that UBE3A loss specifically from GABAergic neurons can cause seizures in an Angelman syndrome mouse model. It was previously unclear which cell classes were relevant, and there were reasons to believe that UBE3A loss in both excitatory and inhibitory neurons was important. The research showed that loss of UBE3A from inhibitory neurons, but not excitatory neurons, is enough to cause seizures. This illustrates that both timing AND location of UBE3A restoration are important in reducing seizures in AS. This is relevant to gene therapy and other treatment approaches. More work needs to be done to determine different cell types and pathways to further understand the link between UBE3A and seizures in Angelman syndrome.

See an article about the research in Spectrum.

Access the full issue (requires paid subscription).

05 Jan

Our Gift to YOU!

Angelman Syndrome Family Retreat at Center for Courageous Kids
April 1-3, 2016

The holidays aren’t over yet! Our gift to you is a family weekend retreat at the Center for Courageous Kids, a camp designed exclusively for children with disabilities and their family members.


“CCK offers an amazing weekend for families to relax and be together … treating all kids, with or without special needs, as equals. We enjoyed the fellowship at meals, swimming, horseback riding, fishing, bowling … And we had a great volunteer to assist us with our kids. We look forward to going back this year!”

– Christi Gould, AS mother who previously attended the camp with her family.

 

Here are the details:

  • Thirty — yes, 30! — AS families will have the opportunity to come together for a full weekend of fun, fellowship, acceptance and respite.
  • The camp is designed for the entire AS family to attend together. Children with  AS must be at least five years old.
  • Families will enjoy a number of fun activities, including archery, bowling, canoeing, horseback riding, arts and crafts, and so much more!
  • The weekend retreat goes from Friday afternoon to Sunday afternoon; families must commit to the entire weekend.
  • The ASF is partnering with the Center for Courageous Kids to jointly fund this weekend getaway as a gift to you! Families only need to cover their travel costs to and from camp.

Want to see pictures of families enjoying the camp? Visit the Center for Courageous Kids’ Facebook page!

Don’t miss this incredible opportunity!

Families interested in attending should complete the Family Retreat online application as soon as possible before space fills up, as only 30 families will be able to attend. The Center for Courageous Kids will review all family applications and notify you of your acceptance into the family weekend, at which time more detailed information will be provided.

CAMP INFORMATION

Center for Courageous Kids
1501 Burnley Road
Scottsville, KY 42164

Office of Camper Recruitment
Contact: Alvin Farmer
Phone: (270) 618-2912
Email: alvin@courageouskids.org

 

IMPORTANT DATES

February 1, 2016 – Deadline to Apply for a Volunteer Position
February 15, 2016  – Deadline to Register
April 1-3, 2016 – ASF Family Weekend Retreat

 

VOLUNTEER OPPORTUNITIES

Calling all volunteers who want to attend and help our families! Twelve volunteer slots are available for those who want to help and support families during the weekend retreat in various roles. It’s a three-day commitment including attendance at the volunteer orientation at the start of the weekend. All food and lodging costs are covered; travel to the camp is the responsibility of the volunteer. Center for Courageous Kids provides a complete list of detailed volunteer job descriptions. Background checks will be required.

To apply for a volunteer position contact Kelli Firquin, Volunteer Recruiter at kelli@courageouskids.org and complete the online application.

 

30 Nov

Mayo Clinic, ASF Celebrate Opening of New Clinic

One-Stop Facility Provides Comprehensive Support for Individuals with Angelman syndrome from Infancy through Adulthood

ROCHESTER, Minn., November 30, 2015 – Mayo Clinic and the Angelman Syndrome Foundation (ASF) announced today the opening of Mayo Clinic’s Angelman Syndrome Clinic, one of only three Angelman syndrome-specific clinics in the country. The facility, established by Mayo Clinic with support from the ASF, focuses 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 leverages the variety of expertise and specialized care available at Mayo Clinic to help individuals with Angelman syndrome from infancy through adulthood.

Occurring in one in 15,000 live births, Angelman syndrome is a neurogenetic disorder often misdiagnosed as autism or cerebral palsy that causes severe neurological impairment, 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.

Mayo Clinic’s mission is to inspire hope and contribute to health and well-being by providing the best care for each patient through integrated clinical practice, education and research.  “We provide each patient and family with a team of experts using integrated case management to conduct a complete evaluation of the patient’s condition, for which a treatment plan is then developed and tailored to each patient’s needs. We are thrilled to provide this very specialized care for individuals with Angelman syndrome and their families with the help of ASF,” said Ralitza Gavrilova, M.D., a Mayo Clinic neurologist and geneticist who will lead the effort.

With the goal of improving quality of life for individuals with Angelman syndrome, Mayo Clinic provides seamless access to a care team of pediatric and adult specialists in the following areas: clinical genomics, epilepsy, sleep medicine, psychiatry, speech pathology, clinical nutrition, orthopedics, neuropsychiatry, gastroenterology, physical medicine, rehabilitation and social work. Upon arrival at Mayo Clinic, patients first meet with Clinic Director Dr. Gavrilova, and one of the Clinic Co-Coordinators, Sarah Mets or Marine Murphree, who are both certified genetic counselors. A review of past medical history, a comprehensive family history is conducted and discussion of a care plan occurs, followed by several days of consultations and testing with specialists who are all experts in Angelman syndrome. At the completion of the visit, a summary meeting occurs with the genetic counselor, who offers recommendations for the patient’s local health care providers.

“Our foundation has focused its mission on providing tangible, accessible support for individuals with Angelman syndrome and their families, and this clinic is another representation of that and further delivers on our promise of helping open a total of 17 clinics across the country during the next few years,” said Eileen Braun, executive director of the ASF and mother to a young woman with Angelman syndrome. “To have the exceptional team and vast medical resources available at Mayo Clinic accessible to our families is tremendous, and we could not be more proud to support the Mayo Clinic to bring the Angelman Syndrome Clinic to life to help our families when they need it most.”

The Angelman Syndrome Clinic is located at Mayo Clinic’s main campus at 200 First St. SW, Rochester, Minn. 55905. Patients can contact Mayo Clinic after Dec. 1 to request an appointment through the central appointment office at (507) 538-3270, with coordinated visits to the Angelman Syndrome Clinic to begin in Feb. 2016. Referring physicians can call (800) 533-1564 or click here to refer a patient.

For more information about Mayo Clinic, please visit www.mayoclinic.org.

ABOUT MAYO CLINIC

Mayo Clinic is a nonprofit organization committed to medical research and education, and providing expert, whole-person care to everyone who needs healing. For more information, visit http://mayocl.in/1ohJTMS or http://newsnetwork.mayoclinic.org/.

 

06 Aug

ASF-funded research at UNC published in Cell

Angelman Syndrome Foundation-Funded Research at University of North Carolina-Chapel Hill Leads to Breakthrough in AS- and Autism-related research

Research from the lab of Dr. Mark Zylka, a leading AS researcher and associate professor of cell biology and physiology at the University of North Carolina-Chapel Hill, has made a few exciting discoveries related to Angelman syndrome. The research, which has implications for AS and shed light on many genetic intricacies not previously known about autism, was published today in Cell, a top neuroscience publication—a tremendous accomplishment for the research team.

The team’s research has identified a pathway that regulates the activity of the UBE3A enzyme. If a specific phosphate is attached to the UBE3A enzyme, the enzyme is turned off. If that phosphate is removed, the UBE3A enzyme is turned on. The research published in Cell discusses the implications for Dup15q syndrome, where the UBE3A enzyme needs to be turned off; and for AS, where research needs to both produce more of the enzyme activity, by turning on the paternal copy of the UBE3A gene, as well as turn on the UBE3A enzyme.

“What the exciting work by Zylka and colleagues indicates is that UBE3A levels are (almost certainly) very tightly regulated during development, and treatments designed at restoring UBE3A expression must be undertaken with great care, due to the potential dangers of overexpression and excessive UBE3A activity,” said Lynne Bird, M.D., Professor of Clinical Pediatrics at the University of California-San Diego.

You can click here to read UNC’s press release, which further discusses the research’s implications for autism and Dup15q syndrome.

You can click here to access the full paper in Cell.

The Angelman Syndrome Foundation funded this research in its 2013 research grant cycle. The National Institutes of Health, the Foundation for Angelman Syndrome Therapeutics, and Autism Speaks also funded this research.

AS father to climb Mt. Kilimanjaro to raise awareness
22 Jul

AS father to climb Mt. Kilimanjaro to raise awareness

Kyle Rooney is father to 19-month-old Madden, who was diagnosed with Angelman syndrome at six months old. Until that diagnosis, Kyle and his wife were just like any other family—excited young parents, eager to watch their twin sons grow and prosper. But when Madden received the diagnosis, they became ‘Angelman parents’: scared and overwhelmed at first, learning to adjust to their new reality.

This is when Kyle became exceptional: Kyle will be climbing Mount Kilimanjaro around New Year’s 2016 to raise awareness for Angelman syndrome. From Kyle himself:

Summit 4 AngelmanMy trek to the top of Mt. Kilimanjaro is a small tribute to my son Madden and everyone with Angelman syndrome. Those with AS work tirelessly every day to accomplish simple tasks that most of us surely take for granted like feeding themselves, standing and communicating. Madden lives a life harder than most, but you couldn’t tell by the smile on his face. He doesn’t waiver and he never quits. He’s my inspiration to try to climb Mt. Kilimanjaro, the ‘roof of Africa.’

If trekking up one of the tallest mountains in the world motivates someone to ask me, “Why are you doing this and what is Angelman syndrome?” then I’ve accomplished by goal. Trekking to the summit of Mt. Kilimanjaro is for Angelman syndrome and the accomplishments my son Madden reaches every day.

What is your Summit?

Every single one of us has daily Summits we reach. No matter how big or small, these accomplishments can be inspiring, moving, and even funny.Please share your personal Summit story of accomplishment on Facebook and Twitter and include the hashtag, #Summit4Angelman. It is our hope that we will all find strength, motivation and escape from these stories of hard work, persistence and accomplishment. What is your Summit?

Visit Kyle’s personal blog at www.summit4angelman.com to find out more about Kyle’s journey.

How else can you help?

Kyle’s goal is to raise awareness, and he wants to reach 19,341 people. That’s one new person introduced to Angelman syndrome for every foot that Mt. Kilimanjaro is tall. (Mt. Kilimanjaro is 19,341 feet tall.) With your help in introducing Summit 4 Angelman to as many new people as possible, we can reach that goal!

You can also encourage these newly introduced individuals to make a donation in support of AS research and family support services. Funds raised will be donated to the ASF in support of the AS community and finding a cure.

THANK YOU for your support of Kyle and his goal to broaden awareness of AS across the world!

 

10,000 People Walk In 35 Cities Nationwide To Find A Cure For Angelman Syndrome
19 May

10,000 People Walk In 35 Cities Nationwide To Find A Cure For Angelman Syndrome

Congressman Todd Rokita (R-IN) enjoys the ASF National Walk in Indianapolis with his wife and two sons, one of whom, Teddy, is diagnosed with Angelman Syndrome.

Congressman Todd Rokita (R-IN) enjoys the ASF National Walk in Indianapolis with his wife and two sons, one of whom, Teddy, is diagnosed with Angelman Syndrome.

Over the weekend, more than 10,000 people marched to raise awareness and funds to support improving the lives of those affected by Angelman syndrome, a severe, neurogenetic disorder often misdiagnosed as autism or cerebral palsy. Families, friends and individuals with Angelman syndrome participated in the Angelman Syndrome Foundation (ASF) National Walk in 35 cities across the country to raise funds to support the ASF, a national nonprofit organization dedicated to advancing the awareness and treatment of Angelman syndrome.

More than $1 million has been raised (in preliminary totals) towards the $1.25 million fundraising goal, with fundraising continuing until the goal is achieved. Individuals are encouraged to donate or help fundraise in support of the Angelman syndrome community.

“We are in awe of the love, support and dedication that everyone who participated in or supported the ASF National Walk expressed for our individuals with Angelman syndrome,” said Eileen Braun, ASF Executive Director, walk founding organizer, and mother of Kaitlin, who has Angelman syndrome. “It is an exciting time in the Angelman syndrome community as research continues to advance and develop treatments as we move closer towards an eventual cure, and more and more services are becoming available to help individuals with Angelman syndrome and their families. Without the support for the ASF National Walk, a number of these advancements would not be possible, and we are incredibly grateful for everyone who is helping us achieve our fundraising goal in support of our loved ones with Angelman syndrome.”

Angelman syndrome is caused by the loss of function of a particular gene during fetal development, resulting in severe neurological impairment present at birth and lasting for a lifetime. Symptoms vary and include severe developmental delays, speech impairments, seizures, walking and balance disorders, and frequent laughter and excitability. While there is no definitive count, it is estimated that Angelman syndrome occurs in one in every 15,000 live births.

The ASF National Walk supports the community’s ultimate goal of finding a cure for Angelman syndrome. Since the event began in 1999, more than 80,000 individuals have participated, raising more than $9 million for the ASF. These valuable dollars fund research initiatives, support services for families and caregivers of individuals with Angelman syndrome, and informational and educational programs for those battling the disorder including families, educators, health care professionals and researchers.

“There is still much work to be done when it comes to meeting the future funding needs on behalf of the Angelman syndrome community and achieving the ultimate goal of finding a cure for Angelman syndrome,” added Braun. “The ASF National Walk is the perfect opportunity to help us reach our goals as a community.”

This year, the ASF National Walk expanded internationally with a new Walk site in Ontario, Canada, which is being held this coming Saturday, May 23. Several other new cities also joined the cause this year as 2015 ASF National Walk sites—Olathe, Kan., International Falls, Minn., Lake of the Ozarks, Mo., Durham, N.C., and Warwick, N.Y, which all held their Walks this past Saturday. The following cities hosted a Walk this year:

Alabama (Huntsville)
Arizona (Tempe)
California (Los Angeles)
California (Sacramento)
California (San Diego)
Colorado (Denver)
Connecticut, (Hartford)
Florida (Orlando)
Illinois (Naperville)
Indiana (Indianapolis)
Kansas (Olathe)
Kansas (Wichita)
Louisiana (Breaux Bridge)
Massachusetts (Boston)
Michigan (Auburn Hills)
Minnesota (Hutchinson)
Minnesota (International Falls)
Missouri (Lake of the Ozarks)
Missouri (St. Louis)
Nevada (Las Vegas)
New York (Buffalo)
New York (Warwick)
North Carolina (Durham)
Ohio (Cincinnati)
Ontario (Canada)**
Oregon (Eugene)
Pennsylvania (Philadelphia)
Pennsylvania (Pittsburgh)
South Carolina (Columbia)
Tennessee (Nashville)
Texas (Dallas)
Texas (Houston)*
Utah (Salt Lake City)
Washington D.C.
Washington (Seattle)

*The Houston, Tx. Walk was held Sunday, May 17.
**The Ontario, Canada Walk will be held Saturday, May 23.