Please join us for a unique fundraising event on Friday, Sept. 11th, 2015 at Boston Harbor Hotel from 7:00-11:30pm.
Enjoy great food & drinks, dancing to the band Fusion, guest speakers, silent auction, and inspiring “Lite the Night” paddle raise.
FAST is committed to raising at least $20 million to continue support of the FIRE Initiative (FAST Integrative Research Environment), the most aggressive, collaborative research initiative to date in identifying treatments and a cure for AS. The Fire Initiative spans four universities, funding more than 24 scientists working on drug discovery, gene therapies, new animal models and technologies as well as further elucidating the genetic mechanisms that cause AS.
In just 2 years, the FIRE team has identified 3 potential drug treatments, 2 potential gene therapies and is developing 2 novel animal models.
With sufficient funding, we can move these advances from the lab to our children who so desperately need them.
FAST has funded over $3 million in ground-breaking research and has recently announced the first-ever sponsored clinical trial of a potential treatment of AS scheduled to begin later this year.
Your support is our driving force! If you are unable to make it, please consider making a donation.
This year’s event is presented by: F.W. WEBB Company, Danielle Pinders, Amy Girouard Michael Cecere Maiya Dos, Judy Swanton.
Joanna Marcella a British designer and the founder of the Fashion Designers’ and Craft makers’ Network; would like to announce the insertion of an electrifying Collections Showcase in aid of Angelman Syndrome. Over thirty innovative international Fashion designers will be exhibiting their original collections at the first ever Angelman Syndrome Collections Showcase on Saturday 25 April 2015 at the Studio Arte, 265 West 37th Street, New York, NY 10018.
The Collections Showcase will provide a launching pad for up and coming emerging designers. The aim is to exhibit to a vibrant audience of consumers, fashionista’s and the press. Angelman Syndrome is an extremely rare condition that is characterised by laughter, energetic movement, hugs and a mutual fascination of all things shiny – including water.
Those with Angelman Syndrome will typically have profound special needs, some physical disability, a significant lack of verbal skills, sleep disturbance and epilepsy as well as other possible complications. Angelman Syndrome does not reduce normal life expectancy but those with the condition will always need round-the-clock care.
Joanna says, “I’m encouraged by Colin Farrell’s mission to raise more awareness. As a celebrity he is able to catch the attention of the media with the story of his own son. As a designer I and other members of the fashion industry can use this showcase to raise funds for the research, which will lead to treatments and eventually a cure.”
Established press, bloggers and other media are invited to attend to cover the show; we’re also inviting up and coming; Make up Artists, Hair Stylists, Male and Female Models, Photographers, Stage managers, Presenters/Compares, journalists, Djs and Stewards to come and support as volunteers.
For more information:
Professor David Segal heads a research laboratory at The Genome Center of the University of California Davis. A main focus of the Segal Lab is designing proteins that can bind to DNA and “turn on” or “turn off” the expression of specific genes. Such DNA binding proteins have the potential to be used in applications such as targeted gene expression therapy for conditions with a known genetic basis. For example this approach might allow people with Angelman Syndrome to make up for the loss or inactivation of the UBE3A gene on the chromosome inherited from the mother, by “turning on” or expressing the UBE3A gene inherited from the father.
Professor Segal recently co-authored a review article in BMC Neuroscience* entitled The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. The article discusses the use of DNA-binding proteins called artificial transcription factors as potential treatments for Angelman Syndrome. We asked Professor Segal about the technologies described in the review and the implications they could have for people with Angelman Syndrome.
What is targeted gene expression therapy?
In some types of genetic disease, there are genes that we would either like to turn on or turn off in order to treat the disease. Unfortunately, drugs don’t do this very well. Drugs are good at inhibiting enzymes that carry out chemical reactions in the cell, or binding to receptors on the cell’s surface to block signaling pathways. They usually cannot turn on specific genes. There are also some drugs that act on the general machinery that regulates gene expression. That would be “untargeted” gene expression therapy, because these drugs affect the expression of many genes. My lab believes that if you want to turn specific genes on or off, you should try to understand how nature does this. Nature uses proteins called transcription factors that bind to specific sequences of DNA. In this way, the transcription factors activate or repress just their target gene. We are trying to adopt this same approach to create a “targeted” gene expression therapy for Angelman Syndrome.
Why would Angelman Syndrome be a suitable condition to be treated using targeted gene expression therapy?
Angelman Syndrome is caused by loss of expression of the UBE3A gene in the brain which means that the UBE3A protein it codes for is not made. Regulation of UBE3A expression in the brain is unusually complex and the loss of expression can be due to several different types of mutations or errors that occur where UBE3A is located on the maternal chromosome, the chromosome a child inherits from the mother. However, in all cases there is a perfectly good copy of the UBE3A gene on the paternal chromosome, which is inherited from the father. In the brain this copy is normally “silenced” by the expression of yet another gene, called the UBE3A-antisense transcript. UBE3A and the UBE3A-antisense transcript lie in the path of each other, like two trains heading towards each other on the same track. Usually the UBE3A gene is the loser in this contest, so it doesn’t get to make its protein because its path is blocked by expression of UBE3A-antisense transcript. If we can either turn the UBE3A gene on stronger, so that it is more likely the winner, or if we could turn the UBE3A-antisense transcript down, so that it is more likely the loser, we may be able to restore UBE3A expression in the brain. It is worth mentioning that most other genetic diseases have both copies (maternal and paternal) of the gene mutated, and thus it doesn’t help to turn those genes up or down. In this case, the unusual gene regulation in the region of the UBE3A gene gives us a special opportunity for targeted gene therapy.
The use of artificial transcription factors for targeted gene expression therapy is discussed in your article. What are artificial transcription factors?
Transcription factors are one of the main tools that nature uses to turn genes on or off. They are proteins that are typically composed of two parts. One part is called an effector domain, which interacts with other proteins in the cell to cause the gene to be turned on or off. The other part is a DNA-binding domain, which can seek out and bind to a specific sequence of DNA and thus bring the effector domain to a specific gene. To make an artificial transcription factor, we steal an effector domain of a natural transcription factor and attach it to a programmable DNA-binding domain. A lot of scientific research has gone into how to make high quality programmable DNA-binding domains, and they are improving all the time. They go by names such as zinc fingers, TALEs and CRISPRs. The result is an artificial transcription factor that can turn on or off whatever gene to which we program it, in the case of Angelman Syndrome this is either UBE3A or the UBE3A-antisense transcript.
What advantages do you think they will have over other molecules being used or developed for gene therapy?
This approach should regulate the gene where it naturally occurs on the chromosome, and there may be some advantages to that. There is a lot about gene regulation that we don’t fully understand. For example, the UBE3A gene actually produces at least three slightly different forms of the UBE3A protein depending on variations in the process that converts the gene sequence into the protein it codes for. Although we think they are all doing pretty much the same thing, some forms of UBE3A protein end up in the cell nucleus and others in different parts of the cell. A traditional gene therapy would introduce a new healthy copy of the gene in a viral vector (a sequence of modified virus DNA) that expresses the gene using its own machinery. Using this method only one form of the protein would be made. Our method uses the cells normal machinery and would allow all the natural forms to be made.
Another important lesson we have learned about gene therapy is that dosage matters. Too little gene expression can be bad, but too much can be bad too. For example too much UBE3A expression has been associated with autism. Our approach may offer the ability to tailor the dose of gene expression to the individual, kind of like drug therapies do.
There are other kinds of therapies that target the chromosomal copy of UBE3A or the UBE3A-antisense transcript, such as the antisense oligonucleotide therapy being pioneered by Dr. Arthur Beaudet¹ at the Baylor College of Medicine. That method uses short, man made sequences of nucleic acids, the building blocks of DNA, to block the expression of specific genes by preventing their proteins being made. It may have similar advantages or different advantages to artificial transcription factors. Ultimately, several methods may be useful, or one method may prove to be much more effective than the others, we will just have to see. In any case, testing several strategies ensures that the Angelman community is always the winner, because they will know that whatever proves most useful will be the best that all of us can do, not just the best that one person can do.
¹ Editor’s note: Dr.Beaudet’s antisense oligo approach aims to block the UBE3A-antisense transcript and allow for expression of paternal UBE3A.
Will it be possible to deliver artificial transcription factor therapeutics to specific areas of the brain that are affected in Angelman Syndrome?
Our current understanding is that UBE3A expression is lost throughout the brain in Angelman Syndrome. Our preliminary data suggests our artificial transcription factors can become widely distributed in the brain, much more so than any viral vector in use today. However, delivery remains an active area of research for this project, and we will continue to make improvements and incorporate the improvements of others to do the best we can with this.
Do you think this type of therapy could offer a treatment for all of the symptoms of Angelman Syndrome?
I don’t think anybody really knows if restoring UBE3A to full activity will fix all the symptoms of Angelman Syndrome. About 70% of affected individuals have a large deletion that removes other genes besides UBE3A. Even though there is still one copy of these genes on the paternal chromosome that is active (unlike the paternal UBE3A, which is silenced), the loss of even one copy of these genes from the maternal chromosome may contribute to some of the neurologic symptoms of Angelman Syndrome. Experiments to understand this better are in progress, and this is just one more thing that we still have to learn.
Are there likely to be any side effects to this kind of therapy?
Since our artificial transcription factor does not normally exist in nature, we are always concerned about an immune response against it. This would probably not cause harmful side effects but could reduce its effectiveness. Also, like drugs, there could be “off-target” effects if the factor were to regulate other genes unintentionally. The issue of side effects is something that we really want to understand before we think about any trials in humans.
How long could it take before we know whether they might be suitable as a treatment for humans?
The researchers and the whole Angelman community are lucky to have two very well funded sources of support in the Angelman Syndrome Foundation and the Foundation for Angelman Syndrome Therapeutics. My work is mostly funded by the latter, and they are very serious about moving things quickly into something that can help people. But, to paraphrase Einstein, science should move as quick as possible, but not quicker. We need to better understand side effects and immune response. We need to examine different dosing regimens and delivery methods. Unfortunately these experiments take time to do correctly. So I can’t make any promises about when we will be ready for clinical trials, I can only promise that I will keep trying.
Can you tell us anything else about the research into Angelman Syndrome that your lab has been doing and how it is progressing?
We have been developing artificial transcription factors for targeted gene expression therapy of Ube3a in a mouse model of Angelman Syndrome. The factors are based on DNA binding proteins known as zinc finger proteins which recognize and target specific areas of DNA. The factor was designed to turn the Ube3a -antisense transcript down on the paternal chromosome, which we hoped would restore Ube3a expression in the brain. Our preliminary data suggests that we are able to inject this purified factor into mice and it is indeed able to activate expression of UBE3A in the mice brains. This is a very exciting result for us for several reasons. Most injected proteins as well as many drugs are not able to cross the blood-brain barrier, a membrane of tightly packed cells that protects the brain from foreign substances in the blood. However, our engineered protein seems able to get in. It also seems to activate the Ube3a gene, and by using a special antibody that binds to the area of interest we are fairly convinced that it is the silenced paternal copy that is getting turned on. I say “seems” and “suggests” because we have not published these findings yet, which means our work has not been peer reviewed by other scientists. We want, and the community should also want, that everyone can look at our work and agree that it is true. As a scientist I need to be the biggest skeptic of my own work, and part of that is carefully building proof that what we think is happening is actually happening. We hope to publish the first chapter of our story soon.
However, there will be more chapters because there are still many things we need to learn before we can think about trying to activate UBE3A in a person. We need to understand the potential side effects of our treatment, and if any genes besides UBE3A are affected. We need to know how long the activation lasts after treatment. And of course we need to know what affect this treatment has on the behavior of the Angelman mouse. All those studies are also in progress right now. One of the things that we and others have been learning is that the symptoms that our mouse model of Angelman Syndrome display is a lot milder than what we typically see in people. We have some ideas about why that might be, and with the help of the Foundation for Angelman Syndrome Therapeutics (FAST), we are building better rodent models of the disease. If successful, these new models will help us and the rest of the research community to test drugs and develop new targeted therapies. I think the advances that have been made in just the past few years, Dr. Ben Philpot’s discovery of a Ube3a-activating drug, Dr. Ed Weeber’s gene therapy experiments restoring Ube3a expression in mice, and Dr. Art Beaudet’s antisense termination experiments and oligonuclotide therapy, are all very exciting and certainly seem to offer hope for better treatments. I have certainly been inspired by their work and the work and support of the broader Angelman Syndrome community, and I am glad to think that I might be able to contribute to that.
* Bailus and Segal: The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. BMC Neuroscience 2014 15:76.
By Karen Hill
So my countdown to the 2014 gala is officially underway. Tickets? Check. Hotel? Check. Dress? Well, that usually happens a week before when I have determined I have no more time to lose weight before shopping. I am fortunate that this year will be my third year attending the gala, and it is just under three years since my son Logan (5 del+) was diagnosed.
Last year I was lucky enough to win a spot in the much-anticipated Colin Farrell meet and greet. As I stood in line anxiously for Paula to introduce us, waiting and watching the other families, I whispered to my husband, “that’s so and so, she has a five year old too, I recognize them from Facebook” and “they have a teenage daughter and live in California.” So many people around us I felt like I knew but had never met. Reaching the front of the line, the meet and greet entailed me smiling and nodding while my husband Todd chatted easily with Colin about our son. My lasting impression is that Colin is genuine, kind and truly cares and loves our kids.
The most powerful moment of last year’s gala for me was sitting in a room full of other parents, relatives and friends. You know – the people you don’t have to explain anything about your child to and that are not going to tell you that you look tired. This feeling is amplified as everyone attending quietly watches the Gala slideshow of all the individuals with Angelman Syndrome. It is telling how close I feel to the Angelman community that I can name so many of these children yet have never met them or their parents in real life. It’s exciting to sit at the table and wonder how many of the people you will get to meet. I am so grateful to the FAST board and especially to Paula Evans for providing this opportunity.
This year I look forward to hearing the latest from the FIRE initiative, actually taking a night off with my husband and getting to meet more amazing parents. I also really hope that this year my non-pregnant self will make it to my first after party!
This two-day event includes a science seminar on Friday, December 5, 2014, an educational seminar Saturday afternoon, December 6, 2014 and a star-studded, fundraising Gala on Saturday evening, December 6, 2014. The event takes place at the Chicago Hyatt Regency located at 151 East Upper Wacker Drive, Chicago, Illinois, 60601. Admittance to the Science and Educational Seminars is complimentary. Tickets to the Gala are $150.00 per person. The 2014 FAST Gala is a formal, twenty-one and older event. FAST has secured a discounted room rate of $114.00 per night at the Hyatt Regency; rate is valid until November 14, 2014.
To download the Corporate Sponsorship form, click here.
To purchase tickets or tables to the event, click here.
To purchase Corporate Sponsorship of the event, click here.
To book hotel room(s), click here.
To download an Auction/Raffle Donation Request form, click here.
The full event schedule is as follows:
Friday, December 5, 2014
10:00 AM to 12:00 Noon
Seizure Seminar – Featured Speakers:
Dr. Anne Anderson, Associate Professor, Departments of Pediatrics, Neurology and Neurosciences, Baylor College of Medicine and Medical Director, Epilepsy Monitoring Unit, Texas Children’s Hospital.
Dr. Douglas Nordli Jr., Ann & Robert H. Lurie Children’s Hospital of Chicago, Division Head, Epilepsy Center; Attending Physician, Neurology and Epilepsy Center; Lorna S. and James P. Langdon Chair of Pediatric Epilepsy; Fellowship Director for the Epilepsy Program, Northwestern McGaw Medical Center; Professor of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine.
Topics will include: dietary treatment options for epilepsy, cannabidiol (CBD) in the treatment of epilepsy, non-convulsive status epilepticus, best practices for treatment of seizures in Angelman Syndrome.
12:00 Noon – 1:00 PM – Complimentary Lunch Served
1:00 PM – 5:00 PM – Science Seminar – Featured Speakers:
Dr. Edwin Weeber, Professor, Molecular Pharmacology & Physiology, University of South Florida. Chief Scientific Officer, USF Health Byrd Alzheimer’s Institute, University of South Florida. Director, Murine Neurobehavioral Testing Facility, University of South Florida. Primary Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Dr. Anne Anderson, Principal Investigator, Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories, Texas Children’s Hospital. Associate Professor, Departments of Pediatrics, Neurology and Neurosciences, Baylor College of Medicine. Co-Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Dr. David Segal, Associate Director of Genomics, UC Davis Genome Center. Associate Professor, Department of Biochemistry and Molecular Medicine, School of Medicine, M.I.N.D. Institute. Associate Professor, Department of Pharmacology, School of Medicine. Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Dr. Scott Dindot, Assistant Professor, Department of Veterinary Pathobiology, Texas A&M University. Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Dr. Sarah Black, Postdoctoral Research Associate, Texas A&M University.
Topics will include: Drug discovery, Artificial Transcription Factors, novel therapeutics in the treatment of Angelman Syndrome and much, much more.
5:30 PM – 6:30 PM – New Animal Models in Angelman Syndrome – Featured Speakers:
Dr. Jorge Piedrahita, Professor of Genomics, North Carolina State University. Director, North Carolina State University Center for Comparative Medicine and Translational Research.
Dr. Scott Dindot, Assistant Professor, Department of Veterinary Pathobiology, Texas A&M University. Investigator, FAST Integrative Research Environment (FIRE) Initiative
Dr. David Segal, Associate Director of Genomics, UC Davis Genome Center.
Saturday, December 6, 2014
10:00 AM – 11:30AM – Meet the Scientists – Open Q&A on AS Research
1:00 PM – 4:00 PM – Literacy in Angelman Syndrome Workshop – Featured Speakers:
Erin Sheldon, M.Ed. Literacy and Assistive Technology Specialist
Dr. Caroline Musselwhite, CCC-SLP, Literacy and Assistive Technology Specialist
Dr. Gretchen Hanser, OT, Literacy and Assistive Technology Specialist Focus: An overview session will demonstrate practices used successfully to develop literacy and communication skills in a range of students with Angelman Syndrome. Follow-up workshops for attendees will then provide hands on
Focus: An overview session will demonstrate practices used successfully to develop literacy and communication skills in a range of students with Angelman Syndrome. Follow-up workshops for attendees will then provide hands on
instruction in how we can engage our students in a variety of literacy activities and technologies. Attendees should bring iDevices if they have one, but this is not required.
6:00 PM – Midnight – 2014 FAST Gala – Grand Ballroom – Featured Guests: Colin Farrell, critically acclaimed actor and Golden Globe winner. Films include Phone Booth, In Bruges, Crazy Heart, Horrible Bosses, and Saving Mr. Banks. Jai Courtney, critically acclaimed actor. Films include Jack Reacher, A Good Day to Die Hard, Divergent and soon to be released Unbroken. Retta, actress and comedienne best known for her role on NBC’s Parks and Recreation. Josh Peck, actor known for his role in Nickelodeon’s Drake & Josh. Films include Ice Age and Red Dawn.
Tickets to the 2014 FAST Gala include a cocktail hour from 6:00 PM – 7:00 PM, a formal three-course dinner from 7:00 PM – 8:30 PM, celebrity guest speakers, keynote speaker, silent auction and raffle and entertainment provided by The Shannon Rovers and 7th Heaven Band.
**The Science Seminar schedule is subject to changes. FAST will announce any changes made, but please check back here prior to the event****
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model
Written by Richard Newton; edits by Rebecca Burdine, Ph.D.
Angelman Syndrome (AS) is caused by loss of functional UBE3A protein expression from the maternal chromosome in affected individuals, but the specific roles this protein plays in the human brain are still being discovered.
The UBE3A protein functions as an ubiquitin ligase, adding ubiquitin to specific protein targets which typically marks them for destruction. Since ubiquitin ligases are involved in the break down and clean-up of proteins that have reached the end of their usefulness, they are sometimes referred to as “housekeeping proteins.” Housekeeping proteins are those involved in the routine maintenance of basic cell function and are thought to be expressed at fairly constant levels in different conditions (1). However, research is showing that there is more going on with how and why the UBE3A gene is expressed than is expected of a housekeeping gene.
Recent research conducted by Dr. Weeber and his team (2), funded by FAST, is shedding more light on the expression of the Ube3A gene in mouse – the triggers that cause the gene to create its protein. In their paper, Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model, Dr. Weeber and his team show that not only did they observe that neuronal activity could regulate expression of maternal Ube3a, they observed changes in the amount of paternal Ube3a expression as well.
Most of what we have learned about the expression of Ube3a protein was determined while the system was at rest. That is not to say it was static, because biological systems rarely are, but the neurons weren’t being stimulated by excitatory or inhibitory input – they were essentially “resting”. A recent paper by Greer in 2010 demonstrated that Ube3a expression was upregulated during induced seizures or in response to new environments, suggesting a link between neuronal activity and Ube3a expression (3). This current report extends those findings and demonstrates that “learning events” increase Ube3a protein levels. Intriguingly, the increase in Ube3a protein came from expression of both the maternal and paternal genes in the hippocampus. Thus, the notion that the paternal gene is “silent,” or not expressed, in the brain is beginning to be challenged.
Additionally, the research showed that lack of Ube3a protein prevented activation of other proteins, specifically the ERK (Extracellular-signal-Regulated Kinases)1/2 kinase proteins. ERK 1/2 kinases control expression of other genes and are activated by addition of a chemical phosphate (referred to as “phosphorylation“). The reduction of phosphorylated ERK in mice lacking maternal Ube3a is significant as ERK activity is well known to be necessary for synaptic plasticity and formation of memories. Thus, this may be a mechanism that contributes to reported deficits in synaptic plasticity and cognitive function in AS mice and in patients with AS.
Taken together, the findings provide new insight into both the expression of Ube3a by neuronal activity and also Ube3a’s potential role in synaptic plasticity. In the future, targets of ERK1/2 can be explored to identify potential “druggable” targets to explore for AS therapeutics. The findings also highlight the need to explore the mechanisms that control expression from the paternal chromosome. These may reveal additional ways we can utilize to increase the levels of UBE3A in individuals with AS, but should also be taken into account with current efforts to reactivate the paternal allele.
To read the abstract on PubMed, click here.
1. Human housekeeping genes, revisited. Eisenberg E, Levanon EY. Trends Genet. 2013 Oct;29(10):569-74. PMID:23810203
2. Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. Filonova I, Trotter JH, Banko JL, Weeber EJ. Learn Mem. 2014 Jan 16;21(2):98-104. PMID: 24434871
3. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME. Cell. 2010 Mar 5;140(5):704-16. PMID: 20211139
The Amazing 2014 International Angelman Day Awareness Campaign
by Paula Evans, Chairperson, FAST
We tweeted, we posted, we gathered with family and friends and we called in some heavy hitters, all to help us raise awareness of Angelman Syndrome in the most unique and fun campaign to date for International Angelman Day 2014.
It began with a simple message, Ainsley is my reason #cureangelman, and quickly spread like wildfire throughout Facebook. Newsfeeds were flooded with pictures of our beautiful children and messages of hope and inspiration. The Angelman community took a crash course in tweeting and wasted no time in flooding Twitter with tweets about Angelman Syndrome and our cause.
Foundation for Angelman Syndrome Therapeutics (FAST) spokespersons Colin Farrell, Jai Courtney and Retta created personal, heartfelt video messages to share with the world. They were quickly joined by Josh Peck, Wilmer Valderrama, Shenae Grimes, Josh Beech, Melissa Peregrym and the NBA Washington Wizards who all wanted to help us reach as many people as possible with our awareness campaign. Enrique Iglesias took time out during a concert performance to re-tweet out a message from FAST to his millions of followers. People.com, Just Jared and Wonderwall were just some of the online websites to cover our story.
In other words, it was huge!! It is impossible to tell just how many people we were able to reach but we know it was at least 4,950,382 on Twitter, 83,230 on Facebook and 22,463 via YouTube – absolutely amazing!!
After the community worked their fingers off on this very successful social media campaign, we all went out to dinner at Ruby Tuesday restaurants to celebrate and raise money. The Ruby Tuesday Give Back program raised over $9,500.00 for FAST. Online donations stand at $31,797.96 and counting. Other community events such as Skate for a Cure, Hoops for Hope, Spaghetti Lunches and other community and restaurant fundraisers should bring our total to at least $65,000.00 – enough to fund much needed research.
To view celebrity videos, please visit our website at www.CureAngelman.org. FAST cannot possibly thank everyone who participated in International Angelman Day 2014 and made it more successful than we could have ever imagined. Well done Angelman community, well done!!
Angelman syndrome is a neuro-developmental disorder..
Angelman syndrome is a neuro-developmental disorder that occurs in 1 in 15,000 live births. Individuals with Angelman syndrome often show characteristics similar to those affected by autism, cerebral palsy and Prader-Willi syndrome. That’s why it’s important to increase awareness and understanding of Angelman syndrome, as misdiagnosis is a prevalent problem among individuals with this developmental disorder. To learn more, go to www.angelman.org/diagnosis
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (“FAST”) is pleased to announce that the 2nd Annual Global Summit on Angelman Syndrome will take place on Friday and Saturday, December 6-7, 2013 at the Hyatt Regency Chicago. You will not want to miss this year’s excitement as we have more free seminars, more guest speakers and even more celebrity attendees!
The Annual FAST Gala will take place Friday evening, 6:00 PM to Midnight, in the Regency Ballroom of the Hyatt Regency Chicago. Guest speakers this year include Dr. Edwin Weeber and Dr. Rebecca Burdine. Guest of Honor is Golden Globe winning actor and fellow parent,Colin Farrell. Additional celebrity attendees will be announced in the coming months! Entertainment will be provided by 7th Heaven Band. Additional entertainment will be announced in the coming months.
There will be two seminars on Saturday afternoon, December 7th, 2013, one on challenging behaviors in Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome. Dr. Chris Oliver, world expert on challenging behaviors in Angelman Syndrome, will host the seminar on behaviors and Dr. Keith Allen, Professor of Psychology and Pediatrics, will host the sleep seminar, both will have a parent Q&A session immediately following. To view videos of the Educational Seminar and Scientific Round Table hosted at the 2012 FAST Global Summit on Angelman Syndrome, please visit the FAST YouTube page.
A Scientific Round Table panel will be held on Saturday, December 7th, 2013. Speakers include renowned Angelman Syndrome experts, Dr. Edwin Weeber, Dr. Scott Dindot and Dr. David Segal. Additional speakers will be announced in the coming months. The Scientific Round Table discussion will be the most comprehensive and up-to-date overview of the current landscape of Angelman research. Immediately following the informative discussion, the scientists will answer any questions from audience members in a Q&A session.
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome:
Friday – Saturday, December 6-7, 2013
Hyatt Regency Chicago, 151 E Wacker Dr, Chicago, IL 60601
Friday night – Annual FAST Gala
Saturday afternoon – 2 educational, Angelman-specific seminars
Saturday afternoon – Scientific Round Table
To purchase corporate sponsorship, please click here.
To purchase program advertisement, please click here.
To purchase an announcement for family or a friend, please click here.
Silent Auction Donation:
To download the silent auction donation form, please click here.
Admission to all seminars will be free to the Angelman community.
Tickets to the Gala are $150.00 per person. Tables of ten (10) and twelve (12) are available for purchase. FAST is releasing a limited supply of tickets at this time. You may purchase tickets by clicking here.
The FAST room rate at the Hyatt Regency Chicago is $109.00 per night plus tax. This rate is available from 12/03/2013 to 12/09/2013. This rate is only valid if you book before November 15, 2013. You may book your room by clicking here.
Rules & Restrictions:
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala venue.
Children are permitted and welcome to attend the seminars.
Tickets and table purchases are non-refundable.
Colin Farrell Ticket Giveaway:
The Colin Farrell Ticket Giveaway will be announced this September. Every Angelman family will be eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala. The ticket giveaway will be announced via email and on the FAST Facebook page. There are a very limited amount of tickets in this drawing, so please note that entry in the drawing does not guarantee you will receive tickets.
Guaranteed Complimentary Tickets and Lodging:
The Summit is so much fun and so educational, that we often forget its main purpose is to raise funds for research! We encourage all of you to secure Corporate Sponsorship, Program Advertisement or Program Announcements from your employer, local businesses, friends and families for this very exciting event. Individuals who secure either a $1,000.00 Corporate Sponsorship or $1,000.00 in Program Advertisement and/or Announcements will receive two complimentary tickets to the Gala. Individuals who secure a $5,000.00 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency Chicago. Click here for sponsorship forms. Click here for a Program Advertisement and Announcement Form.
The Gala will be a sold-out event. We are not able to live-stream the Gala on the web this year. FAST intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship. If you want to ensure your attendance at the event, please purchase your tickets now or win them by securing Corporate Sponsorships. If you have any questions about the FAST Global Summit on Angelman Syndrome, please send an email to info@CureAngelman.org.
Uncharted Waters – An Update From FAST On The Minocycline Clinical Trial
In March of 2013, the Tampa 24, wrapped up their final visits to Tampa General Hospital for the human clinical trial to test the efficacy of minocycline in treating symptoms of Angelman Syndrome (AS). The “Tampa 24” is the name penned by the Angelman community for the 24 children randomly chosen to participate in the clinical trial. Since that time, members of the Tampa 24, board members of the Foundation for Angelman Syndrome Therapeutics (FAST), and the team at University of South Florida have all been asked about the results of the minocycline clinical trial.
It may feel as if it has been a long time since we started this journey, but we should try to put this into perspective. First, we, the community, raised enough funding for FAST to support the initial studies conducted by Dr. Edwin Weeber, testing four compounds in the AS mouse model for potential therapeutic benefit. Those studies were initiated in January 2011, and minocycline was quickly identified as having great potential. Two weeks of treatment with minocycline restored motor function and cognition in the AS mice.
In the summer of 2011, we voted our hearts out to win the Vivint Gives Back Contest, which allowed FAST to fund a small human clinical trial to test the efficacy of minocycline in 24 individuals, aged 4 to 12. Dr. Weeber’s clinical trial commenced in February of 2012 with the first 12 participants visiting three times over sixteen weeks. Two participants were seen per week in the trial. Once the first 12 were through the trial, the second set of participants began the trial in the Fall of 2012. Those visits ended in March of 2013.
Bringing a scientific finding from the bench to a human clinical trial in one year is practically unheard of. There are few rare disease groups that have worked this hard to make the possibilities of science a reality for our children. That being said, we are now sailing in uncharted waters of bringing potential treatments for AS into medical practice.
As we eagerly await the official result of the minocycline trial, FAST is committed to sharing all available information that affects our community as soon as we are able to do so. In our journey through these unchartered waters, we at FAST have consulted with clinicians and officials at the National Institutes of Health. We were advised that asking Dr. Weeber to release specific results from the trial, prior to its submission for publication, would not be in the community’s best interest as the work has not had a chance to be peer-reviewed and assessed by experts in relevant fields. This is essentially a quality control step to ensure the data is being interpreted accurately and fairly. Additionally, releasing results before they have been properly evaluated and peer-reviewed could damage any attempts to expand or start new clinical trials for this or other potential therapeutics for AS.
This means we will all have to wait a little while longer to have the specific results from the trial. Dr. Weeber has previously mentioned that preliminary results suggest that minocycline treatment improved behavior, attention and communication in children with AS; however, Dr. Weeber also emphasized that the data was preliminary and that any conclusions about minocycline as an effective therapeutic would have to wait for the conclusion of the clinical trial. Now that the patient portion of the trial has concluded, Dr. Weeber and the team at the University of South Florida are analyzing all of the data to determine what the results of the trial are and to see if any of the findings are statistically significant. The results will then be submitted to a journal for peer-review and publication. Dr. Weeber has stated that he hopes to submit his article for publication by the fall of this year. Given the standard turnaround time for peer-review, the earliest we might hope to see the results “in press” would be this winter. Once the article is in press, we will be able to bring the specific findings to the community.
If the results remain positive, it will be imperative to conduct larger, placebo controlled trials to legitimize the use of minocycline in individuals with AS. These trials are critical to obtaining approval by the FDA for labeling minocycline for this purpose. And, if we have an FDA approved treatment for at least some of the symptoms of AS, it would help us push to have AS added to the newborn screen for genetic disorders. – very exciting!
Various groups, both in the United States and abroad, that are in a position to conduct larger clinical trials in the AS population, are currently organizing and applying for funding to support the larger trials if they are warranted. Dr. Wen-Hann Tan has applied to several sources for funds to conduct a trial of minocycline through the RDCRN for teenagers and young adults. Other groups are trying to arrange trials to extend the current findings within a similar age range to the Tampa trial.
Once the minocycline clinical trial results are available, and if the results are positive, the AS community will be called upon to help support these trials. As such, recruitment for larger clinical trials would hopefully begin soon thereafter.
What does this mean for our Angelman community? Qualified candidates will be needed to participate in trials if we want FDA approved treatments for AS. As Helen Keller once said, “No pessimist ever discovered the secret of the stars, or sailed to an uncharted land, or opened a new doorway for the human spirit.”
We are sailing to that uncharted land and are very optimistic that we are on the right course. To that end, FAST is committed to raising the funds necessary to find potential therapeutics and ultimately, a cure for AS. We want to have the funds on-hand to support new clinical trials when they are ready to go so the community doesn’t have to wait any longer than necessary for these opportunities.
We are happy to announce that the Fast Integrated Research Environment (FIRE) initiative is underway and the four inaugural researchers involved are already examining new compounds for their therapeutic potential. FAST expects more clinical trials will be developing as the FIRE researchers continue their studies.
As always, we will bring you updates on the FIRE projects and on the clinical trial as soon as we are able to do so. Your continued support is the fuel that is driving us toward a cure; we are raising hope through research and changing lives together.