Harley
an Angelman
Thursday 24 May 2012
Wednesday 25 April 2012
Collin Farrell
Angelman Syndrome does not discriminate; it can affect any family. Collin Farrells son James has AS and Collin has talked openly about his support for a cure for Angelman Syndrome.
Check out some of the links below to watch Collin talk on various talkshows about Angelmans
http://www.youtube.com/watch?v=8ui4SzW22rc
http://www.youtube.com/watch?v=g1jRPIrrqh4
http://www.youtube.com/watch?v=TLtx2dj-FHw
Check out some of the links below to watch Collin talk on various talkshows about Angelmans
http://www.youtube.com/watch?v=8ui4SzW22rc
http://www.youtube.com/watch?v=g1jRPIrrqh4
http://www.youtube.com/watch?v=TLtx2dj-FHw
Monday 23 April 2012
A small film from The night for the Angels
Check out the following link. Upstairs studios has made a very wonderful little film about The night for the Angels
http://upstairstudios.com/
http://upstairstudios.com/
Wednesday 28 March 2012
Harley frangipani
Harley got stuck in the worst seat on our way home from byron. To make it worse mum had frangipani cuttings in the back of car. Hes didnt seems so bothered except jasmine and I couldn't stop laughing at him
Research Insights and Updates from FAST australia
I know a lot of you have been interested in the scientifics of discovering Angelman Syndrom and hopefully its cure in the future. I can not adequately explain this so I have attached an article from the FAST website and hope you will take the time to read it and other great articles on the page
http://www.cureangelman.org.au/content/2946
http://www.cureangelman.org.au/content/2946
By Edwin J. Weeber, Ph.D. (From FAST Australia newsletter, June 2010)
What makes AS research different?
A good analogy for understanding how hundreds of laboratories around the world conduct their respective research is the tale of the three blind men examining different parts of an elephant and trying to describe to others what they think it is. In many ways this is what we do in science; each researcher looks at a different aspect of the condition and tries to see how their findings fit in the larger context. However, even if you fill the room with blind men, no consensus will ever be reached if there is a lack of open communication between the observers. This is why collaboration, synergy, and sometimes serendipity are paramount for quick advancement of a field of study. In 1998 Dr. Arthur Beaudet developed a mouse model for AS. This represented an expensive endeavor both in time and money. Can you imagine the stifling consequence to scientific discovery and the progression of AS research if Dr. Beaudet had kept this mouse model solely for his own research? Instead these animals were openly shared with whoever wanted to investigate them. I believe the collaborative spirit among the community of AS researchers today is a direct result of Dr Beaudet’s decision to share his valuable resources with other colleagues. This spirit is evident in the authorship of many AS-related scientific papers that list scientists from multiple academic institutions world-wide. Today, the community of AS researchers has remained in close communication and is continually growing.
Where is AS research now?
There have been a number of major advancements in the past year. Use of the mouse model has revealed structural changes in the cells of the brain. Changes have been identified in mitochondria, the energy suppliers of cell, and in the spines of neurons where synapses are formed and maintained (1,2). These studies suggest that morphological changes at the subcellular level play a role in the overall change in synaptic function. In two independent studies, changes in synaptic strength are seen in a specific area of the sensory cortex (3,4). These changes indicate that the dysfunction in how synaptic connections are maintained and strengthened during sensory inputs is more wide-spread throughout the brain than was previously believed. This is supported by the discovery that the AS gene product appears to be absent throughout the brain in the AS mouse model. Recent genetic research has shown that another gene mutation in the TC4 gene located on chromosome 18 were found in a small number of patients clinically diagnosed with AS, but with no identifiable genetic alteration in UBE3A (5). These identifications are important for two basic reasons. First, individuals with a clinical, but not genetic diagnosis represent approximately 12 % of all individuals diagnosed with AS. Identification of additional genetic mutations also associated with AS symptomology will reduce this percentage of unknowns. Second, identification of genetic disruption that results in AS symptoms may shed light on molecular mechanisms and down-stream biological consequences of UBE3A maternal deficiency. Finally, a recent study identified several new targets of the AS gene product, Ube3a (6). One of these targets is a protein called Arc. This protein regulates receptors at the synapse and is known to be involved in the processes that underlie the strengthening of synaptic connections and memory formation. The culmination of the studies listed above, and those not discussed due to brevity, will serve to help shape ongoing and future research.
What is the future of Angelman Syndrome research?
This may be an opportune time to talk briefly about the terms “cure” and “therapeutic”. A cure is defined as a method or course of medical treatment used to restore health completely. In essence to make a person healthy as if no malady had ever occurred. For example, a “cure” in the context of AS may represent a medical intervention after birth, or in utero, that would be given before the onset of symptoms. The “cure” in this definition for individuals with a current diagnosis of AS is extremely doubtful. With that said, the development of a therapeutic, defined as a treatment of a disease or disorder, is reasonable. However, the efficacy of therapeutics tends to be only as good as their targets. Thus, a “magic bullet” treatment for all of the symptoms associated with AS is easy to imagine given the one gene etiology, but may be more difficult to realize. This should not discount that the development of therapeutics to treat specific aspects of AS have the potential to profoundly impact individuals with a current diagnosis of AS. The development of novel drugs is an expensive and risky endeavor, but clearly not an impossible task.
Are there new drugs on the horizon?
Conclusions?
The past year has seen impressive progress of AS-related research across multiple disciplines. Increased awareness of AS in the scientific community and high profile scientific publications will continue to attract more basic and clinical scientists. The recipe for this is simple and often under-appreciated. For example, there were nearly 2000 scientific publications associated with Arc research in the past 2 years. The study mentioned above will introduce a multitude of new scientists to AS and will likely persuade some of those researchers to include Angelman Syndrome in their respective research programs. As I mentioned earlier, scientific research is a painstaking and slow progression, but a progression nonetheless. There is a deliberate and relentless march forward toward a better understanding, and one day a treatment for, Angelman syndrome.
What makes AS research different?
A good analogy for understanding how hundreds of laboratories around the world conduct their respective research is the tale of the three blind men examining different parts of an elephant and trying to describe to others what they think it is. In many ways this is what we do in science; each researcher looks at a different aspect of the condition and tries to see how their findings fit in the larger context. However, even if you fill the room with blind men, no consensus will ever be reached if there is a lack of open communication between the observers. This is why collaboration, synergy, and sometimes serendipity are paramount for quick advancement of a field of study. In 1998 Dr. Arthur Beaudet developed a mouse model for AS. This represented an expensive endeavor both in time and money. Can you imagine the stifling consequence to scientific discovery and the progression of AS research if Dr. Beaudet had kept this mouse model solely for his own research? Instead these animals were openly shared with whoever wanted to investigate them. I believe the collaborative spirit among the community of AS researchers today is a direct result of Dr Beaudet’s decision to share his valuable resources with other colleagues. This spirit is evident in the authorship of many AS-related scientific papers that list scientists from multiple academic institutions world-wide. Today, the community of AS researchers has remained in close communication and is continually growing.
Where is AS research now?
There have been a number of major advancements in the past year. Use of the mouse model has revealed structural changes in the cells of the brain. Changes have been identified in mitochondria, the energy suppliers of cell, and in the spines of neurons where synapses are formed and maintained (1,2). These studies suggest that morphological changes at the subcellular level play a role in the overall change in synaptic function. In two independent studies, changes in synaptic strength are seen in a specific area of the sensory cortex (3,4). These changes indicate that the dysfunction in how synaptic connections are maintained and strengthened during sensory inputs is more wide-spread throughout the brain than was previously believed. This is supported by the discovery that the AS gene product appears to be absent throughout the brain in the AS mouse model. Recent genetic research has shown that another gene mutation in the TC4 gene located on chromosome 18 were found in a small number of patients clinically diagnosed with AS, but with no identifiable genetic alteration in UBE3A (5). These identifications are important for two basic reasons. First, individuals with a clinical, but not genetic diagnosis represent approximately 12 % of all individuals diagnosed with AS. Identification of additional genetic mutations also associated with AS symptomology will reduce this percentage of unknowns. Second, identification of genetic disruption that results in AS symptoms may shed light on molecular mechanisms and down-stream biological consequences of UBE3A maternal deficiency. Finally, a recent study identified several new targets of the AS gene product, Ube3a (6). One of these targets is a protein called Arc. This protein regulates receptors at the synapse and is known to be involved in the processes that underlie the strengthening of synaptic connections and memory formation. The culmination of the studies listed above, and those not discussed due to brevity, will serve to help shape ongoing and future research.
What is the future of Angelman Syndrome research?
This may be an opportune time to talk briefly about the terms “cure” and “therapeutic”. A cure is defined as a method or course of medical treatment used to restore health completely. In essence to make a person healthy as if no malady had ever occurred. For example, a “cure” in the context of AS may represent a medical intervention after birth, or in utero, that would be given before the onset of symptoms. The “cure” in this definition for individuals with a current diagnosis of AS is extremely doubtful. With that said, the development of a therapeutic, defined as a treatment of a disease or disorder, is reasonable. However, the efficacy of therapeutics tends to be only as good as their targets. Thus, a “magic bullet” treatment for all of the symptoms associated with AS is easy to imagine given the one gene etiology, but may be more difficult to realize. This should not discount that the development of therapeutics to treat specific aspects of AS have the potential to profoundly impact individuals with a current diagnosis of AS. The development of novel drugs is an expensive and risky endeavor, but clearly not an impossible task.
Are there new drugs on the horizon?
An interesting development in new drugs for AS is the investigation of a novel compound developed by Ardane Therapeutics (www.ardanetherapeutics.com). Their new drug called CN 2097 is currently in a Phase I feasibility study for the potential use as a therapeutic to treat the cognitive impairment in AS. This novel drug targets a sub-type of neuronal receptor that is well known to be involved in learning and memory. In fact, a mouse genetically designed to produce more of these receptors was found to be ‘smarter’ then genetically unaltered mice. This ‘smart’ mouse was termed “the Doogie Mouse” with deference to the 80’s TV child prodigy, Doogie Howser M.D. CN 2097 is shown to reduce the threshold for synaptic plasticity; a measurable defect found to exist in the AS mouse model. While these studies are in the first stages of drug development, it indicates that these types of drugs are becoming of interest to the business-minded pharmaceutical development companies.
The past year has seen impressive progress of AS-related research across multiple disciplines. Increased awareness of AS in the scientific community and high profile scientific publications will continue to attract more basic and clinical scientists. The recipe for this is simple and often under-appreciated. For example, there were nearly 2000 scientific publications associated with Arc research in the past 2 years. The study mentioned above will introduce a multitude of new scientists to AS and will likely persuade some of those researchers to include Angelman Syndrome in their respective research programs. As I mentioned earlier, scientific research is a painstaking and slow progression, but a progression nonetheless. There is a deliberate and relentless march forward toward a better understanding, and one day a treatment for, Angelman syndrome.
- Mardirossian, S., Rampon, C., Salvert, D., Fort, P., and Sarda, N. (2009) Exp Neurol 220, 341-348
- Su, H., Fan, W., Coskun, P. E., Vesa, J., Gold, J. A., Jiang, Y. H., Potluri, P., Procaccio, V., Acab, A., Weiss, J. H., Wallace, D. C., and Kimonis, V. E. (2009) Neurosci Lett
- Sato, M., and Stryker, M. P. Proc Natl Acad Sci U S A 107, 5611-5616
- Yashiro, K., Riday, T. T., Condon, K. H., Roberts, A. C., Bernardo, D. R., Prakash, R., Weinberg, R. J., Ehlers, M. D., and Philpot, B. D. (2009) Nat Neurosci 12, 777-783
- Takano, K., Lyons, M., Moyes, C., Jones, J., and Schwartz, C. Clin Genet
- Greer, P. L., Hanayama, R., Bloodgood, B. L., Mardinly, A. R., Lipton, D. M., Flavell, S. W., Kim, T. K., Griffith, E. C., Waldon, Z., Maehr, R., Ploegh, H. L., Chowdhury, S., Worley, P. F., Steen, J., and Greenberg, M. E. Cell 140, 704-716
The tampa twenty-four
http://www.firstgiving.com/fundraiser/lendahelpingwing/lendahelpingwing
The current article was copied from the above website link. It higlights that clinical trials are very much underway in the USA.
The current article was copied from the above website link. It higlights that clinical trials are very much underway in the USA.
Lend A Helping Wing
Fellow Angelman Community Members:
As you know, the Minocycline Clinical Trial is about to begin. Twenty-four children with Angelman Syndrome, now affectionately known as The Tampa Twenty-Four, have been selected to participate in this potentially life changing trial. Each family participating in the trial must travel to Tampa, Florida, USA three separate times, at their own expense, as a part of their commitment to the trial. While many of us applied to participate and were not selected, and many of us could not apply due to the expenses involved, we can all contribute to help defray the significant costs to the families who were selected and were willing to make the sacrifice for the good of the whole community.
While each family's costs will vary, our goal is to raise a minimum of $3,000 per family, or $72,000.00. $120,000 would be even better. This may sound ambitious; but it is the Angelman community, and their friends, family and loved ones, a formidable and supportive force, that have brought us all to this point in time. We can all participate in our own way in this groundbreaking trial, by making it possible - and less expensive - for those who will actually be taking part. These raised funds are in addition to the $1,000 provided to each family by FAST. One organization can only do so much: We, the Angelman community, through this grassroots effort, can do the rest!
Please give generously and ask those around you to give generously. This could literally be a historical moment in Angelman Syndrome history and YOU can help make it happen.
For more information, including disbursement schedules, details on fund management and other specifics, please click here.
Sincerely,
Marc Bissonnette
Dale Jackson Van Hal
Tony Vidray
As you know, the Minocycline Clinical Trial is about to begin. Twenty-four children with Angelman Syndrome, now affectionately known as The Tampa Twenty-Four, have been selected to participate in this potentially life changing trial. Each family participating in the trial must travel to Tampa, Florida, USA three separate times, at their own expense, as a part of their commitment to the trial. While many of us applied to participate and were not selected, and many of us could not apply due to the expenses involved, we can all contribute to help defray the significant costs to the families who were selected and were willing to make the sacrifice for the good of the whole community.
While each family's costs will vary, our goal is to raise a minimum of $3,000 per family, or $72,000.00. $120,000 would be even better. This may sound ambitious; but it is the Angelman community, and their friends, family and loved ones, a formidable and supportive force, that have brought us all to this point in time. We can all participate in our own way in this groundbreaking trial, by making it possible - and less expensive - for those who will actually be taking part. These raised funds are in addition to the $1,000 provided to each family by FAST. One organization can only do so much: We, the Angelman community, through this grassroots effort, can do the rest!
Please give generously and ask those around you to give generously. This could literally be a historical moment in Angelman Syndrome history and YOU can help make it happen.
For more information, including disbursement schedules, details on fund management and other specifics, please click here.
Sincerely,
Marc Bissonnette
Dale Jackson Van Hal
Tony Vidray
Monday 26 March 2012
FAST- Foundation Angelman Syndrome therapeutics
Get Involved
FAST is focused on one goal: developing treatments for, and ultimately curing, Angelman Syndrome. Your involvement is critical in helping us reach this goal as quickly as possible. Whether you are looking to donate or fundraise, there are countless ways you can help us cure Angelman Syndrome. Below are just a few suggestions:Click on this link to find out all you can
http://www.cureangelman.org/
A night for the Angels
Last week I attended my first ever fundraiser benefit; it was not the kind of fundraiser hosted by the local RSL, where you win a meat raffle and a bottle of the finest chardonnay. It was a very classy event where you dressed up in fancy clothes, sipped lovely champagne and bet in the silent auction, and it was all for a very good and close cause to me, The Foundation Angelman Syndrome Therapeutics.
One of my closest friends accompanied me knowing that this was something she wanted to support not only for me but for my brother too. I was disappointed that my Mum didn’t want to attend but I can understand she is very guarded and sceptical when it comes to discussing progress in the world of Angelmans. Before attending the event I was extremely nervous. I did not know what to expect and I did not want to talk about Harley with these strangers. Harley is one of the oldest Angels I have come across in the community so far, and I didn’t want to answer a question truthfully in case it wasn’t what they wanted to hear. What if I broke the spirit an AS parent? I wanted them to still have hope but I didn’t want to provide false hope. How wrong could I have been? My perspective changed as soon as we arrived at Miramare Gardens.
I ran into my brother Rhys in the car park, I had forgotten he was going to do the photography for the event. As we walked into the lobby we were overwhelmed by the assortment of silent auction items. It wasn’t just a couple of out of date items but hundreds of great things ranging from cases of wine, to surf lessons, to holidays, paintings and even a gorgeous diamond ring. I turned to my friend “whatever you do don’t let me bet on anything”, she nodded in agreement. As we made our way through the throngs of gifts we spotted my vice, a brand new GHD. Well both being woman we decided that betting on one item was ok and well we’d get our money’s worth out of a GHD. We also purchased two cute yellow paper Angels, excitement boiling over when we discovered that our little Angels came with prizes and were not just the decorative wall features we thought they were.
As we were ushered to our dining chairs, I couldn’t believe that there were four hundred and seventeen people in this room; the most important being Michaela Townsend who organised this grand event. I also realised I was sitting at a table of people who had AS children. At first I didn’t let them know I had an AS brother but I listened as they spoke about their sons and daughters and then without nerves I admitted my older brother had AS. Instead of bombarding me with questions they did none of the sort, we obviously discussed AS but I discovered that I was being overactive before. We were all just trying to expand our knowledge and find a supporting community; it was great to be able to discuss with a group of people that understood you instead of trying to understand what you are going through.
Not a dry eye was seen during the formalities when a video played highlighting all the young angels in the community. My friend gripped my hand; I don’t think she expected this reaction from either of us. Then Meagan Cross was introduced to the stage. I had informally met Meagan through our cyber networks and it was great to see her. She gave a wonderful and hopeful speech about finding a cure for AS. In the USA AS therapeutics was on the forefront, they had found a cure for AS in mice and that human clinical trials were on the Horizon. Then Meagan spoke of her daughter with AS. It was a lovely illustration of her daughter who like Harley has so many difficulties and so many outstanding qualities. My friend gripped my hand a second time, as my eyes unforgiving gave me away again. I needed to meet Meagan in person.
I decided to keep a distance as I saw everyone wanted to talk with Meagan but finally she made her way to our table. I sat next to her and introduced myself and she knew instantly who I was. At the same time my brother had joined our table and we talked and talked and talked. I was slightly star struck, filled with hope that in Harley’s lifetime there might be a cure, or some kind of therapy. We talked about how we can get involved more in the community, my brother and I walking away with a new sense of purpose. I could tell you about all the other AS families I met but theres too much to tell and too many people to talk about.
Back to the auction, the event raised over $70,000. This far exceeded the generosity I thought people we were inclined to give. Two people bet $4500 on nothing, an extremely generous donation for something that does nothing and needs nothing. As the night the night concluded I had my new GHD under one arm (it was a lengthy battle but I beat out a man named Kevin to claim my prize) and under the other a bottle of won Vodka. I felt elated I never thought people would care so much about a relatively unknown syndrome but I was proved wrong.
Sunday 8 January 2012
A night for the angels
For the last six months my blogs have been very infrequent as I was out exploring the world. I have now returned to Australia and will continue to post my ever lasting stories of Harley.
As for now, I would like you to all go to this website
http://www.anightfortheangels.org/
If you are in Sydney at the time, please buy a ticket and come along to the fundraiser and support families affected by Angelman syndrome.
As for now, I would like you to all go to this website
http://www.anightfortheangels.org/
If you are in Sydney at the time, please buy a ticket and come along to the fundraiser and support families affected by Angelman syndrome.
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