Saturday, December 8, 2012

UBE3A Gene: Why This Is Important in Seizure Research



According to Dr. Olson, the UBE3A Gene is responsible for seizures in people with Angelman Syndrome. This has been known for years, and recently groups like the Angelman Syndrome Foundation, have been putting money into research to look at this angle. They are of course located at www.angelman.org, and are the biggest non governmental entity, with regards to researching this medical diagnosis. So what's the big deal about the UBE3A gene? Well, considering that its been isolated, this could not only lead to seizure treatments for "angels," but for people with generalized epilepsy as well. This gene has been shown in people also across the autism spectrum, which why at all haste more research needs to be done, and the sooner the better.

I have been trying to learn as much as possible about this particular gene, and how it has been researched at places such as UNC Chapel Hill. It is with profound interest, if finding a way to develop this in mice and other creatures, could lead to breakthroughs for human beings. While a lot of the scientific journals are above my head, some of what I have read and digested, has been encouraging in many regards. The coming year I hope there are more discoveries, along with a way for this UBE3A gene to develop, some anti-seizure methods that can not only stop people from having seizures, but ultimately save lives. 50,000 plus people per year die from seizures, and its time that number is dropped closer to zero.

The researchers who have doctorates from prestigious schools, have accomplished so much, and with the advances of technology there's no doubt discoveries are going to be made. Yet even with this information, we cannot be complacent. Rather, we must continue to let our legislators know of the importance of medical work, as it is a moral battle that can ultimately save lives. If this gene is prevalent to angels and those across the autism spectrum, where seizures are common place, then it may lead to work that can help everyone. That's what matters, and from my heart, I hope that people will be generous towards groups like the Angelman Syndrome Foundation, and other organizations that are working for a cure. The road has not been easy, and the cure has not come soon enough, for too many children and adults with this condition. Yet we must not give in, and sit on our laurels, but rather roll up our sleeves and make these discoveries continue to grow in abundance.

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