Every day, I'm hearing MORE great news for the future of our angels. Seriously, if you have to face the harsh reality that your child has #angelmansyndrome (AS), NOW seems to be the very best time in history to be part of this incredible community.
I 100% believe Cami will be part of the generation that will rewrite the textbook definition for Angelman Syndrome and that this will have a profound impact on the future of many other diseases and disorders!
The researchers who discovered gene therapy techniques are still alive today. The first approved gene therapy clinical research trial took place in 1990. And yet we already know THE EXACT GENE that causes Angelman Syndrome and HAVE ALREADY CURED IT in laboratory settings.
Last week, Ovid Therapeutics announced they are entering their first patient randomized trials for what could become the FIRST medication to help treat Angelman Syndrome. This could have a major impact on the sleep, communication, motor function, socialization, daily living skills, and behavior among kids with AS.
And today, the AS community received more good news. UNC Healthcare announced $6.1M has been awarded to Mark Zylka, PhD, director of the UNC Neuroscience to develop gene therapy for Angelman Syndrome and study the UBE3A autism gene. One of the funded projects will test a CRISPR/Cas9-based gene therapy for AS.
Here's how this works:
Cami (like many people with AS) is missing a section of the maternal side of her 15th chromosome that includes a copy of the gene UBE3A. The maternal side of this gene is what is active in the brain, so when it's missing or mutated - the result is Angelman Syndrome. There is actually a copy of this gene on the paternal side of the chromosome but it is normally turned off, or silenced, in the brain. This research is using gene editing to unsilence the dormant paternal copy of UBE3A. This could be life changing for those with AS!
This video by the Angelman Syndrome Foundation helps explain further:
Friends, A CURE IS COMING for Cami and others with Angelman Syndrome and it will change the future of medicine and genetics. We've donated ourselves and have a goal to raise $1,500 to the Foundation for Angelman Syndrome Therapeutics to help find a cure.
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