The Angelman Syndrome Foundation at http://www.angelman.org/, has always had a special spot, in the hearts of many parents, families, and loved ones who have a child or friend with the condition named in this charity's name. Angelman Syndrome, which is caused by a deletion of chromosome 15, occurs roughly in 1 in 15,000 or 20,000 births. That is at least the best guess, but there are thousands of people whom have this condition, and we must do all we can to help enable them. Dr. Ben Philpot at the University of North Carolina Chapel Hill, may have just been the first to deliver the first real concrete steps, in research for improvements or a cure. How can a child with smiles and laughter not be perfect? This is very true a valid argument, and its for each parent, each family that has an angel in their life, to decide what is best for them. Recently, Dr. Philpot discovered that topoisomerase I inhibitors, these are anti-cancer drugs, can bring back dormant genes to life. This could very well lead to a cure for Angelman Syndrome, other conditions on the Autism Spectrum, and is the most exciting research to date on all of these.
It is incredible what the Angelman Syndrome Foundation, parents, families, and angels have done to make this a reality. Dr. Philpot and his team, and all of those who've been involved in this, should pat themselves on the back, for a job well done. While the work is far from over, the fact that these drugs are already FDA approved, should certainly bring human trials in a safe manner, up to speed much quicker than if they were not. So bring out that University of North Carolina Tarheels hat, and wear it with pride, because the Angelman Syndrome Foundation, has delivered upon a grant, that organizations hundreds of times its endowment amounts, have only dreamed about. It has not been an easy ride for many. Angels have been lost along the way to accidents and seizures, or there have been injuries due to mobility and other issues caused by this medical condition. Angels generally can speak but only a few words, if any, and this has a direct affect on their personal safety.
Dec 21 2011 was the official release from the Angelman Syndrome Foundation, of this great news, that was also published in Nature Magazine. For those not familiar with this publication, it is among the most respected scientific journals that can be found. Ask any scientist, medical professional, and the consensus will be a complete "thumbs of approval." This work has not been easy, whether it be the staff and volunteers who have given countless hours wearing multiple hats, or people doing all that they can do, to make sure that their angel has the best possible life. These are exciting times, and this very much follows what Steve Jobs said about "technology and biology coming together like never before." We must continue, the Angelman families across the world, to stand united. This is our time, and all the blood, sweat, and tears are now paying dividends. Thank you to all who have been on this battle, and this opening shot of sorts, is going to lead to even more discoveries ,for all that have been out on the front lines.
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