It’s a Beautiful Day in the Neighborhood
In the Angelman Syndrome community, we often get to hear heartwarming stories of the good in other people. Maybe it’s the perspective we gain from loving a child with special needs. Maybe our experiences do sometimes bring out the best in other people, giving them the opportunity to be more like the people they aspire to be. Whatever the reason, we’ve read of the friends that helped pay for a family to attend their first FAST Gala, the children’s group that has run a bake sale or created a video to support another child, the fundraisers to help pay the way of a child to participate in a clinical trial or to purchase a much-needed piece of medical equipment, dinners and golf tournaments and races that help fund FAST’s research mission. The international community of friends, family, acquaintances, work friends and strangers on the street who all voted in the Vivint contest to help FAST win $250,000.
I have such a friend and just such a story to share.
Let me go back to the beginning, through the mental snapshots in the photo album of our friendship.
My across-the-street neighbor, Natalie, and I were pregnant at the same time. When we met, she was in maternity overalls, and I was in what I envisioned was a professional-looking maternity suit. We delivered our boys two weeks apart in the early spring. We ordered food trays from the same restaurant for our respective family gatherings when our boys were 8 days old. Our husbands shared breastfeeding advice. Then our paths started to diverge.
I remember looking out of my bedroom window in the middle of the night. Her windows were dark, and I was sure her son was peacefully sleeping in his own crib, while my Ethan was screaming and awake. Ethan hadn’t really slept since he was born, and neither had I.
I remember sitting on her lawn with our husbands and our boys. Her infant son was none too pleased with the new sensation of the scratchy summer grass on his hands and feet sticking out of his onesie. I felt lucky that my Ethan was smiling and happy, enjoying the sensations and the company.
I remember being at a Fall religious service with our boys in their strollers. Her son was sitting forward, seeming eager as he grasped the bar and looked around. My Ethan was slouched back in the seat like a newborn. Hmm… should he be sitting better than that, I asked myself.
As Ethan started home therapies, I remember feeling like I had a revolving door to my home, and multiple cars parked in my driveway and on the street every day. (Another mom has joked of her visiting therapists that she was sure her neighbors suspected she was having affairs!) I knew Natalie’s son, instead, went to library time and play groups.
I have another son three years older than Ethan, who loves his little brother fiercely. The boys all attended each other’s birthday parties. As they got older, I remember climbing after Ethan in the ball pit and through the tunnels at the party gym, looking below at Natalie and the other mommies having adult time and eating pizza. I mused that I was having a better time, with an excuse to play despite the strain on my wrists and knees from crawling, but I felt lonely and different.
We compared notes about ear infections and feeding issues, childcare and balancing work and home.
Then Ethan received his diagnosis of Angelman Syndrome, and much of the next few years is more of a blur. Driving through tears, working, taking care of my children, more therapies, more sleep deprivation. Guilt and grief and having to push through because that’s what moms have to do no matter what.
Natalie and I compared notes about preschools. Her son was to go to the same school we had selected for my older son, a place we loved. Ethan could not attend that school because he was not potty trained, and there was another school that could better meet his needs, that we would grow quickly to love for our precious son. Yet she never looked at Ethan with pity; she knew him for the funny and mischievous person he was. She passed down to Ethan some of her son’s outgrown board and pop-up books, which was lovely and appreciated and just a little painful. Ethan ate only a few of the pages.
We shared a house at the beach, Ethan’s favorite place in the world. The younger boys tagged along with my older son’s brigade of friends, digging and building, although Ethan was best known for his demolition work .Natalie patiently listened to what I learned about Angelman Syndrome. She supported our fundraising efforts and walked in the ASF walks.
When FAST was born and I was invited to serve on the board, Natalie shared that her law firm had recently been part of a case in which there were monies remaining from a legal settlement that had been contributed to a non-profit health organization. When she visited a fundraiser held by The Creative Living Room, our local community arts organization that selected FAST as their annual charitable beneficiary, Natalie shared that she was aware of an opportunity about which FAST might want to learn more. I squealed like a little girl at the thought. Even then, I had no idea of the magnitude of the suggestion.
Natalie is a class action lawyer. When such a case results in a payment of damages, not all of the proceeds can successfully be distributed to all the members of the class. The remainder is contributed to charitable organizations that must be determined by the judge to be appropriate “stand ins” for the injured parties. With documentation from FAST submitted to the court, the individuals with Angelman Syndrome served by FAST were determined to be eligible. Natalie’s firm is not a stranger to charitable work. They have participated in numerous class actions in which residual funds were designated to deserving organizations. The firm’s name can be seen emblazoned on local Little League team shirts and in the programs of fundraising events. They support through leadership and by financial support our local Arc, a national organization that serves individuals with intellectual and developmental disabilities.
More than a year passed after my squeals. We learned FAST would, indeed, be receiving funds. Months passed and I tried (unsuccessfully) not to ask if it would really happen, when, … how much. I received a phone call from another law firm involved in the proceedings, to confirm the mailing address for FAST and to inquire if we were still in business as a charitable organization.
More weeks passed. Then my husband told me Natalie was in our front hallway with her family. He whispered that he thought it was about FAST. I came downstairs, and Natalie handed me an envelope. It was addressed to FAST. The first few words were promising, like a college acceptance letter. And behind the letter was a check. I laughed, I cried, I hugged. I hugged Natalie and her husband and her son. I hugged Natalie again. $190,693.74. One of the single largest gifts FAST has received to date. Meaning that, in 2012, with the anonymous gift of $250,000, nearly $150,000 from Eastside, $50,000 from Chase, and all the family-directed fundraising, FAST will far surpass 2011, the year of Vivint. Meaning that, in 2012, the non-governmental funding in the U.S. for Angelman Syndrome will nearly double.
Just as so often happens for the FAST organization, the funds could not have been received at a better time. They were used to support the 2012 FAST Summit Educational Strategy Seminar and Scientific Roundtable, appropriate since the monies were designated to FAST because our loved ones with AS are so dependent on computer technology for communication and education. These life-changing seminars had approximately 300 in attendance on-site and over 2,000 views on the live feed, with all attending in person or on line for free. All individuals interested in Angelman Syndrome, and those affected themselves, were welcome to attend. With the taping and dissemination of the sessions, we can safely say that this important and empowering information was and will be delivered to thousands of individuals looking to ensure individuals with Angelman Syndrome are able to reach their highest potential.
The designation of these funds also means that FAST can continue to provide educational and communication resources to the Angelman community in the future, without reaching into the funds donated to our primary mission of scientific research towards treatment and a cure. The impact of these sessions is already evident. Erin Sheldon’s presentation of her work in educational and community inclusion and the use of iPad and Smart Board technology to foster academic goals, literacy, and social interaction created palpable energy in the room. This meant the new realization for some, and the reinforcement for others, that our children can not only participate, but be welcomed by and make meaningful contributions to their communities and schools, especially if technological supports are offered appropriately. (Because of Erin’s influence and example, I personally credit her with my Ethan’s participation in Cub Scouts and my courage to try to change the mindsets within our district).
Erin and our beloved Mary-Louise Bertram presented in team fashion. Mary-Louise’s examples forced families, both of young children and of older adults, to quickly dispel their own beliefs that their own children aren’t ready for, or capable of, meaningful communication. Her respect for our children as learners and communicators encourages parents to take the steps necessary to ensure their children have access to autonomous communication systems. Even the “low tech” modalities (such as Pragmatic Organization Dynamic Display or P.O.D.D. books) require high-tech hardware and software to create, which can be intimidating. Mary-Louise has lifted the mystique and made us all braver; discussions are taking place all over the internet as parents support each other and Mary-Louise and Erin continue to offer their expert advice, to utilize technology on behalf of those with Angelman Syndrome. The recordings of the sessions, and the materials parents are beginning to acquire, can be used to further help to inform and convince the professionals who educate and support our children.
I tell you, just as I promised Natalie in my front hallway: FAST will use that money well. We will pinch its many (many) pennies, and make sure it goes a long way to forward FAST’s mission to improve the lives of our loved ones with Angelman Syndrome.
I am overwhelmed with gratitude to Natalie and her firm, Shepherd, Finkelman, Miller and Shah, LLP, for their hard work and their kindness toward FAST, and the impact this has already had and will continue to have on our community.
It truly was a beautiful, hopeful, bright day in my neighborhood, and the entire international neighborhood of families touched by Angelman Syndrome.
What the Gala means to me
From my first encounter with the Foundation for Angelman Syndrome Therapeutics (FAST), shortly after my youngest son’s diagnosis of Angelman Syndrome in November of 2011, I have been overwhelmed by emotion; however, none of those emotions compared to what I felt while attending my first FAST Global Summit on Angelman Syndrome (AS) as the newest FAST board member.
The minute my husband and I walked into the Renaissance Downtown Chicago Hotel on Gala Eve, so many familiar faces and smiles greeted us. Whatever apprehension we may have had prior to arriving quickly vanished because, in a strange way, it felt as if we had finally found a “home” amongst people who truly understood. “For the once a year I get to see so much of my angel family, I can not express enough the love and understanding there is. One amazing place I never feel alone,” is how fellow parent Jeff Mears describes it. After communicating with the Angelman community via Facebook for nearly a year, I was eager to experience first-hand the magic and camaraderie of the Gala that so many had spoken about. In all honesty, I was also hoping that it would begin the healing process, after a year filled with tremendous highs and lows following a diagnosis of AS, little did I know it would provide all of these things and so much more!
The FAST Summit kicked off on Saturday, December 1, 2012, with a FAST-sponsored Education Seminar led by Erin Sheldon and Mary-Louise Bertram. I felt the Education Seminar was the beginning of a complete and more inclusive journey with my own son; a day full of inspiration, of sharing and connecting as a community and I felt enthusiasm starting to swell.
The Gala commenced at 6:00 p.m. with the Cocktail Hour and as I scanned the room, I was overcome with the beauty and joy from everyone gathered to celebrate. Entertainment, delectable food, inspiring and heartfelt speeches made it a night to remember. Sharing the evening with individuals on the same journey that my husband and I are on was priceless. Gala guest and father to both Becca and Kayla, Jason Berkley, exclaimed, “Gala weekend is the one weekend a year Cindy and I get to relax, and party like people without an Angel at home.” Friends, old and new, enjoyed signature cocktails such as the Blue Angel and butler-passed hors d’oeuvres while browsing the extensive silent auction display. Even those unable to make it to Chicago were able to participate in the auction this year thanks to FAST partnering with QTEGO, a wireless bidding technology company.
As the Gala unfolded, over 600 guests spanning 12 countries, as well as nearly 2,000 virtual participants who joined via live web stream throughout the weekend, came together to celebrate the impact that FAST has had on all of our families; restoring HOPE within our community. The Gala opened with wonderful entertainment provided by the incredible Shannon Rovers Irish Bagpipe Band, as well as the famed Trinity Irish Dancers, donating their time to support FAST and the Angelman cause. Despite every attempt possible, a filming conflict prevented Guest of Honor, Colin Farrell, from being able to attend in person and no one was more disappointed than Colin himself. He arranged with the hotel to appear via Skype so he could address the attendees at the Gala, and feel, in some way, as though he was there himself. Colin spoke directly to fellow parents and shared with them the struggles and joys he experiences being the father of a child with AS. He was most disappointed about not seeing his two favorite Gala guests, Billy Yoakam and Stevie Kobela, and took the opportunity to speak directly to them and their families. He joked back and forth with FAST Chairperson, Paula Evans, but Colin became serious when he praised the Board of Directors of FAST for their hard work and dedication to the Angelman community. In turn, Paula thanked Colin for his continued support and invaluable contributions, specifically in regards to his efforts in raising awareness.
Paula expressed her love and appreciation for all of the enriching relationships and experiences AS has provided her and gave an overview of the many accomplishments of FAST in its mere four years of existence; including funding ground-breaking scientific research, a human clinical trial for a potential therapeutic, several FAST-TRAC Grants, over $360,000 in Postdoctoral Fellowship Grants and most recently, the launch of FAST’s Integrative Research Environment (FIRE) – the most novel, aggressive and comprehensive AS research project to date.
Eagerly awaited Keynote Speaker, Dr. Edwin Weeber took the stage to speak about the current human clinical trial on Minocycline in the treatment of Angelman Syndrome, and although unable to share any specifics regarding the trial until its conclusion in early 2013, he did indicate that early signs appear “positive”. He stated that it would be in the best interest of parents of individuals with AS to register with the RDCRN (click here to register) in the event of a potential Phase III Minocycline trial expansion. Joining the contact registry with the RDCRN will assist researchers to identify and recruit patients who are eligible for participation in future research studies. Dr. Weeber credited the Angelman community for the advancements and excitement surrounding AS research, telling the audience that when the book is written on Angelman Syndrome, no one scientist, medication or intellectual property will emerge the hero, rather it will be the parents and the community that will be credited for this miracle in the making.
FAST Chief Science Officer, Dr. Rebecca Burdine discussed the FIRE Initiative and the inaugural consortium of AS experts, consisting of Drs. Anne Anderson, Scott Dindot, David Segal, and Edwin Weeber. Dr. Burdine announced a commitment of at least $1 million a year for the next four years to the FAST Initiative and made a direct call to action for support from the community to locate potential donors and raise critical funds necessary to support and expand the project.
I will be working in my role at FAST to introduce a new and exciting signature fundraiser that will be released in the coming months to support these efforts. This signature event will provide the community with the proper tools and capability to raise funds anywhere that it is implemented – stay tuned for additional details.
Dr. Burdine also announced a project-specific goal to raise $25,000, allowing FAST to fund the creation of an Angelman Syndrome assessment tool, enabling professionals to measure skills of an individual at any point in time; perfect for ongoing and future clinical trials.
The evening also provided an opportunity to recognize those who have played instrumental roles in the FAST mission this year: Corporate sponsors who made the Global Summit on Angelman Syndrome possible; fellow AS parent Kim Haynes for her commitment and boundless energy in Eastside High School’s 2012 Spirit Week; Eastside students – Molly and Maddie Wike, Addie Patterson Wilson, and Isaac Rodgers from Eastside who presented the $150,000 check on stage and earned a deserved standing ovation.
Debbie Guagliardo (the only FAST board member who is not a parent of a child with AS) was chosen by the community and awarded the Angelman Syndrome Family Gratitude Award (ASFG) in honor of her tireless commitment and volunteer hours spent as a key member on FAST’s Board of Directors.
After the speeches, the awards and the recognitions, guests enjoyed a delicious dinner and dessert and then danced the night away to the fabulous 7th Heaven Band. Lisa Tomik Riso, mother of Madie and Vince, poignantly expressed her feelings regarding the evening, “The gala is my Christmas. The one night of the year when I get all dressed up, put on makeup, and celebrate my kids with my dear friends and 500+ parents who understand my life. All while raising money for a great cause; a cure for Angelman Syndrome because that is the greatest gift of all”.
The following day, FAST hosted a Scientific Symposium with three of the four researchers from the inaugural FIRE Initiative; Drs. Weeber, Dindot and Segal and moderated by Dr. Burdine. Members of the audience, joined by a vast online contingent, were able to ask questions and receive responses in real time. Parents from numerous countries, ranging from Columbia to France to Guatemala posed important and relevant enquiries to the panel. Members of the audience also had the opportunity to speak with panel members one on one during the break and at the end of the Symposium. After the Symposium ended, attendees and online participants were left with excitement and HOPE for their loved ones and every individual living with Angelman Syndrome. Rob Manning, father to Arianna, shared his feelings about the weekend stating, “I am amazed year after year how much love and support can be generated from our community. Once a year, hundreds of us can gather together with the goal of how to better the lives of our loved ones and ultimately defeat AS. We are able to lift each other up if our year was difficult and also celebrate our loved ones’ accomplishments. With the addition of the conference this year, we had the platform to share our knowledge with each other. We are a gifted, loved and cherished family and Gala weekend is our Thanksgiving.”
I felt enveloped by the HOPE that awaits each of our loved ones in the months to come. Every one of my experiences and each person that I met filled my soul with love, pride and the determination to work harder. FAST has much to do in embarking on the journey with FIRE, but as I witnessed throughout this magical weekend, strength and momentum grow when we support one another. I am thrilled to work with such a strong, dynamic and dedicated group of individuals and with an equally passionate community. I cannot wait to see all that is accomplished as we continue to work together for a common goal of meaningful therapeutics for Angelman Syndrome.
As I return home with an incredible realization that my family has indeed now expanded in scope, I thank you for making my first Gala so amazing and enjoyable.
I cannot wait for 2013!
Happy Holidays!
Danielle Pinders
A message from the Chair
This is normally my very favorite time of year. December brings with it the FAST Gala and Christmas all in one month. It is a time filled with so much celebration and hope. However, like every parent across the country and around the world, this year I am struggling with the senseless tragedy that befell our nation last week and am finding it very difficult to feel the joy that usually carries me through the holidays. After much thought and prayer, I came to the decision that the best way for me to honor the victims is to make sure I live my life to its fullest every day; to make sure I don’t take a second of my children’s lives for granted; to make sure I tell the people in my life how much they mean to me; to practice simple acts of kindness and to love the work that I do and to do it to the very best of my abilities every day.
There are so many people to thank for making the inaugural FAST Global Summit on Angelman Syndrome a resounding success. The Gala itself was only possible because of the very generous support of our Corporate Sponsors Innovative Mag-Drive, Western Beef, Hulu, Morgan Stanley Smith Barney and Harbinger Strategic. FAST was able to sponsor 300 parent tickets because of the support we receive from actor Colin Farrell and friends and family of Angelman parents. Additionally, FAST was in a position to host the inaugural Education and Science Seminars because FAST was selected as a beneficiary of a class action lawsuit as discussed in this newsletter and because Erin Sheldon, Mary-Louise Bertram, Dr. Dindot, Dr. Segal and Dr. Weeber graciously volunteered to share their knowledge and expertise with our community. FAST treated our parents and individuals with AS to a delicious Sunday Brunch due to a generous sponsorship from Yahoo! Sports and Union Pacific Railroad. FAST was able to provide a complimentary lunch at the Education Seminar due to the generosity of local restaurant owner Jimmy Bannos of Heaven on Seven.
Gala attendees were magnificently entertained by the Shannon Rovers, Trinity Irish Dancers, vocalist Jenna Urbaniak and pianist Beckie Cornelison, all of whom sacrificed their Saturday night and graciously donated their time to perform at the FAST Gala. Hundreds of companies, artists and individuals donated so generously to FAST for our silent auction. Graphic Designers Jeff Steffgen and Harry Bass volunteered their time and talents in designing the summit logo, invite, tickets and program. In addition to being one of our largest sponsors, Innovative Mag-Drive sent an army of volunteers to assist in setting up the space and helping out wherever we needed them. Long-time FAST supporter Leo Bassett arrived early in the morning to set up the live feed and stayed well past midnight, helping us out the entire day. Jason Bernstein of Angel Runners even managed to get the Chicago Trolley Company to donate a trolley to transport our Angel Runners to and from the Santa Hustle and to take Angelman parents sightseeing!! The Renaissance Hotel staff went above and beyond to ensure all of our guests had a wonderful weekend. We are so very grateful to each and every person and business that played a role in ensuring the success of the 2012 FAST Global Summit on Angelman Syndrome.
It never ceases to amaze me how many kind and generous people are attracted to the Angelman community and our cause, from the amazing students at Eastside High School in Greenville, South Carolina, to the couple of strangers that spent time with Angelman parents at the hotel bar the night before the Gala and, after speaking with our fellow parents about why they were there, decided to pick up a $600.00 bar bill for them. People are drawn to us and want to help in any way they can.
FAST will be launching an innovative, global fundraising and awareness event in 2013 to support the FIRE Initiative. This will be a fundraiser that you can invite your family, friends, co-workers and all the people whose lives your children touch to participate in, giving all of them them an opportunity to show their support and do what they can to make a difference in the lives of those with Angelman Syndrome.
With your support, commitment and dedication and by identifying creative sources of revenue such as the Vivint and Chase contests, Eastside’s Spirit Week, and being selected as a beneficiary of class action lawsuits and estate settlements, FAST, in just four years, has been able to fund over $1.35 million in scientific research solely focused on developing treatments for the symptoms of Angelman Syndrome. With the help of 
spokesperson and actor Colin Farrell, FAST has made tremendous strides in raising awareness of Angelman Syndrome. However, our job is far from over and we need your help. Please read about the FIRE Initiative in this issue and ready your personal networks to support this groundbreaking project through the global fundraiser being launched in 2013. Those looking to support the FAST mission right now can do so by visiting www.CureAngelman.org.
On behalf of the Board of Directors of the Foundation for Angelman Syndrome Therapeutics, I thank you from the bottom of my heart. We wish you all a very happy and healthy holiday season and a New Year full of joy, success and milestones.
Sincerely,
Paula Evans
Chairperson
Lighting a fire; FAST Integrative Research Environment (FIRE)
The Foundation for Angelman Syndrome Therapeutics (FAST) is proud to announce the launch of the most aggressive, novel and innovative research program to date into finding treatments and a cure for Angelman Syndrome (AS).
The FAST Integrative Research Environment (FIRE) is a coordinated consortium of leading researchers working together to identify, characterize and implement new therapeutics for the treatment and ultimate cure of AS.
Evidence strongly suggests that therapeutic intervention can ameliorate many, if not all, of the symptoms associated with AS, which include seizures, severe verbal impairment, cognitive and motor challenges.
The underlying cause of AS is the loss of function of the maternal copy of the UBE3A gene. In the brain, the paternal copy of UBE3A is intact, but is epigenetically silenced in most regions. The FIRE team will aim to identify new therapeutics to treat AS and associated symptoms while simultaneously identifying ways to safely reactivate the paternal UBE3A allele, which may provide a true cure for this disorder.
FIRE launches with four prominent Angelman Syndrome researchers and an initial commitment from FAST US of $648,000 and FAST Australia of $150,000, totaling $798,000 for the first year of the project.
FAST Australia’s investment of $150,000 to the FIRE initiative will provide funding for an Australian postdoctoral fellowship, allowing for a qualified researcher to work in a US laboratory conducting Angelman Syndrome research. The expertise gained by the fellow will pave the way for expansion of research to Australia upon his/her return. Additional collaborations with other international organizations and researchers will help extend and expand the reach of FIRE worldwide. FAST intends to generate a minimum of ten million dollars to allow additional researchers and their teams to enter the initiative as funds are raised.
The four inaugural researchers bring unique expertise and perspectives to this endeavor. The combination of their abilities ensures research is not duplicated in multiple laboratories, but rather endorsed by fellow investigators, bringing results from bench to bedside in the most efficient and cost effective timeframe possible. The FIRE model allows researchers to focus on identifying, validating and implementing novel treatments for AS while simultaneously evaluating existing FDA approved drugs, novel compounds, specific interventions, and new animal models. Samples, resources and data can be shared almost instantaneously to increase efficiency and reduce overall costs. FIRE will exponentially escalate the journey towards our ultimate goal – a cure for Angelman Syndrome – by bringing together prominent AS researchers to not only collaborate but also exchange information in real-time.
The Inaugural Projects:
FIRE will focus on short and long-term strategies for therapeutic development. Short-term research will involve identifying pharmaceuticals that are, or are in the process of being, FDA approved. This category of drugs represents those that have passed rigorous testing for safety and tolerability and most have known mechanisms of action. Several potential drugs will be tested to determine their effectiveness in the AS mouse model to treat the 5 major areas of AS symptomology:
- Seizure control (in collaboration with Dr. Anderson);
- Cognitive ability;
- Motor coordination;
- Sleep patterns; and
- Synaptic function and neuronal morphology.
This research strategy has already proven to be useful in identifying potential therapeutics with the identification of Minocycline, a common antibiotic, which was found to have profound effects in the mouse model and is currently in a FAST-funded, Phase II clinical trial as a potential therapeutic for Angelman Syndrome.
Long-term research will involve a collaborative effort with Dr. Segal to develop a novel rat Angelman Syndrome model. This model will be a better experimental model for future therapeutic development and is an integral aspect of Dr. Segal’s research objectives (described below). Dr. Segal will also continue development of artificial transcription factors to reactivate the paternal UBE3A allele. In addition, collaborative efforts with Dr. Dindot will work to identify small molecule precursors to activate the silenced paternal UBE3A allele. Dr. Weeber and Dr. Dindot will use different identification approaches and cross-verify potential positive results with each other. Any positive results will be disseminated to Drs. Segal and Anderson. Dr. Weeber will also work with Dr. Dindot’s Laboratory to identify novel genetic mutations in individuals with clinically diagnosed Angelman Syndrome. The genetic testing is described below in Dr. Dindot’s research plan. Novel mutations identified by Dr. Dindot will be evaluated in the AS mouse and human tissue. This may lead to the identification of new pathways involved in AS and provide additional therapeutic targets for study.
The Inaugural Team:
Anne Anderson, M.D. – Associate Professor, Baylor College of Medicine and Director of the Epilepsy Monitoring Unit of Texas Children’s Hospital
Dr. Anderson is an Associate Professor of Pediatrics in the Departments of Neurology and Neuroscience at Baylor College of Medicine. The Anderson lab is focused on understanding the molecular mechanisms by which signaling pathways modulate neuronal excitability in the immature hippocampus. The lab is also investigating how and why seizures induce long-term changes in ion channel plasticity (acquired channelopathies) and has developed several animal models of cortical dysplasia, autism and epilepsy. Additional studies are focused on cardiac mechanisms underlying sudden death in epilepsy. In addition to her research activities, Dr. Anderson has an EEG rodent core in the Neurological Research Institute (NRI) and practices pediatric epilepsy at Texas Children’s Hospital (TCH), where she is medical director of the epilepsy monitoring unit. Because of Dr. Anderson’s role in the clinical epilepsy program at TCH, she is focused on translational research involving developmental disorders that are associated with epilepsy and brings this expertise to the current project on Angelman Syndrome.
Scott Dindot, Ph.D. – Assistant Professor, Texas A&M University
Dr. Scott Dindot is an Assistant Professor at Texas A&M University, where he has appointments in the Department of Molecular and Cellular Medicine within the College of Medicine and in the Department of Pathobiology within the College of Veterinary Medicine and Biomedical Sciences. He received his doctorate degree in Genetics from Texas A&M University, where his research focused on the study of genomic imprinting and epigenetics in domestic animals. He was a NIH Postdoctoral Fellow at Baylor College of Medicine in Dr. Arthur Beaudet’s laboratory, where he investigated the Prader-Willi/Angelman syndrome (PWS/AS) imprinted domain and the pathogenesis of AS. A major focus of research in Dr. Dindot’s laboratory is aimed at unraveling the cellular and molecular mechanisms regulating genomic imprinting of the AS gene, Ube3a. Other research topics in his laboratory include understanding the function of the human UBE3A isoforms and the dissection of elements regulating imprinting of genes within the PWS/AS imprinted domain.
David Segal, Ph.D. – Associate Professor, University of California Davis
David Segal is an Associate Professor in the UC Davis Department of Biochemistry and Molecular Medicine and in the Department of Pharmacology. He is also the Associate Director of Genomics in the UC Davis Genome Center. He received his Ph.D. from the University of Utah, Salt Lake City, UT in 1996, where his dissertation research focused on methods to stimulate recombination with double strand breaks in DNA. Seeking better methods, he pursued post-doctoral studies with Dr. Carlos F. Barbas III at The Scripps Research Institute, La Jolla, CA, where he helped develop one of the most widely used methods for engineering zinc finger DNA-binding proteins. He joined the University of Arizona as an Assistant Professor in 2002 and moved to UC Davis in 2005. Dr. Segal’s research continues to focus on engineering DNA-binding proteins as molecular tools for gene therapy and biomedical research. He is a recent recipient of a Medical Research award from the W.M. Keck Foundation. Dr. Segal’s involvement with neurologic disorders began when a group of parents and researchers contacted him about the possibility of applying zinc finger technology towards the treatment of Angelman Syndrome (AS). AS is caused by a complex set of genetic events that ultimately manifest in the epigenetic silencing of the paternal gene UBE3A in the brain. The lack of maternal UBE3A decreases synaptic plasticity, leading to profound learning impairments, such as lack of language. The Segal lab has developed zinc finger-based artificial transcription factors that appear to cross the blood-brain barrier and promote widespread activation of the silenced Ube3a gene in the brains of an AS mouse model. The treatment appears to produce a behavioral rescue for at least one phenotype in the mice.
Edwin J. Weeber, Ph.D. – Professor, University of South Florida
Dr. Edwin Weeber is a Professor at the University of South Florida in the Department of Molecular Pharmacology and Physiology. He is Director of the Neurobiology of Learning and Memory, the Cellular Electrophysiology and the Murine Neurobehavior Laboratories. His research is conducted at the USF Health Byrd Alzheimer’s Research Institute, where he is currently the Chief Scientific Officer. Dr. Weeber began his Angelman Syndrome research in 2001 as a Post-Doctoral Fellow at Baylor College of Medicine. His work has focused on understanding the molecular mechanisms underlying the cognitive disruption in the Angelman Syndrome mouse model. He is currently the Primary Investigator for a human clinical trial to determine the effectiveness of the antibiotic Minocycline in the treatment of Angelman Syndrome.
Dogsledding in Sweden
by Alistair Blackburn
Back when my son Callum (del +) was born, two great friends (Giles Derry and David Drake) kindly agreed to be his godfathers. They probably expected a baptism, a few birthday parties, a wedding, and an excuse to make sure to keep in touch to be the extent of their duties. Now Callum is nearly eight years old and together with Callum’s sister’s godfather (Paul Day) they have also become expert fundraisers in support of Callum and Angelman Syndrome. Every couple of years they come up with some crazy idea about how to raise money and capture potential donors’ sense of adventure and humor to entice them to part with fundraising dollars—and to have fun doing it! They came up with three simple rules to judge whether an idea was good:
- Rule 1: The idea must have a transport “theme.”
- Rule 2: Most people will not have done it, or even thought about doing it.
- Rule 3: Each event must be more “out there” than the next.
Past fundraisers began with a “simple” sponsored bike ride and progressed to a banger car rally across Europe (from France to Croatia) in a car purchased for less than $300, performing tasks along the way.
So for this year’s fundraiser, why not go dogsledding in North Sweden at the Arctic Circle? And why not make it a bit more hardcore by turning down the option of cabins at night and instead sleep outdoors in open air snow graves and truly experience the extreme cold conditions and winter nights?
Following the amazing success of past events, and with Callum’s health more stable than past years, I was convinced to join the three others in Yxskaftkalen in Sweden in earlier this year (I still can’t pronounce it properly, but it means Axehandle Mountain). Following some basic instruction, we were each shown our team of six Siberian Huskies who were desperate to get going, and off we went for our three day, 200km trip over mountains, across frozen lakes, and through forests. Sledding for about three hours between breaks, we found that standing on a 2-inch wide metal runner required some significant concentration. We each fell off a couple of times on the first morning going too fast around corners, but following that we got the hang of it!
We were very lucky that the weather was kind to us—sunny and about -8˚C during the 
day and ONLY about -30˚C at night. Food was luxurious boil-in-the bag high-energy food, and lots of water to stay hydrated. At night, we each had to dig our snow grave (exactly how they sound—a trench about 3 feet deep in the snow). Whilst very cold, even in about eight layers of clothes, the nights were so still and serene, and the snow not as uncomfortable as it sounds.
After the first night in snow graves, my sledding colleagues’ first comments were about how badly they had slept and asked mehow I had slept. “Much better than an average night at home,” was my response, with not having to get up to attend to an Angel for a night being a luxury for me! No more complaints from them about their sleeping after that…
The scenery was simply stunning, we ice-fished for arctic char for dinner, saw almost no sign of human existence during our three days, and were treated to a 90 minute Northern Lights display on our last night while sitting around the campfire after d
inner. Something you really can’t describe in terms of its scale, color and beauty. One of our guides has sledded there for five years and described it as the best display he had ever seen.
A warm shower and a change of clothes were most welcome after three days, and not having to dig for an hour to build your bed was a bonus. It was an unforgettable experience and an opportunity to catch up with friends and they got a thorough update on Callum and all the exciting activities going on in the Angelman world in terms of research and potential therapies. Plans for the next trip are underway—though this last trip will be hard to beat in terms of creativity and adventure for a bunch of daytime desk-jockeys (three accountants and a lawyer). Any suggestions welcome!
Money raised was divided between UK, Canadian, and US Angelman charities and we were thrilled to make an $8,000 donation to FAST in support of all the ground-breaking activities ongoing.
You can see more photos of this adventure at Callum’s website
Alistair Blackburn and his wife Heidi, together with their Angel Callum, and his sister, Keira, live in Oakville, Ontario, Canada. Giles, David, and Paul live with their families in the UK—where Alistair is from.