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Mice Study Sheds Light on Angelman Syndrome

There are a variety of disorders and conditions on the autism spectrum, as well as several that have overlapping symptoms with ASD. A new study focuses on an autism-related genetic disorder called Angelman Syndrome.

The study focused on the seizure aspect of the disorder, as ninety percent of children with Angelman Syndrome experience seizures.

A mutated or complete lack of a specific group of neurons, called UBE3A, is linked to the disorder. The researchers aimed to pinpoint how the neurons, or lack of, can influence the brain network, which could be resulting in the seizures.

“If we can home in on how UBE3A loss is altering circuitry, I think that will give us more clues as to what therapeutics will help,” said lead researcher and professor of neuroscience at the University of North Carolina at Chapel Hill, Benjamin Philpot.

Using mice as test subjects, Philpot and his fellow researchers found that the rodents that lacked the gene also had a dwindling level of inhibitory activity. The mice were put into sets based off how the scientists deleted the gene from their neurons, those that increase brain activity, and those that decrease it. Seizures from the inhibitory neurons, the ones that decreased activity, were triggered in the mice by specific convulsant drug or loud noises.

A sleeping drug was shown to improve the motor coordination problems in the mouse with Angelman Syndrome.

The mice with the mutated inhibitory neurons were also shown to have issues in brain activity, evident from electroencephalography. This resulted in seizures that were more severe than those that completely lacked the neurons. Fifteen percent of the mice with these mutated neurons died before they were ever three months old.

For more information, check out the source for this blog post, Spectrum News.

Researchers Aim To Create Largest ASD Registry in US

Studies have varied in size for years, from just a few select control groups to thousands across the globe. Now, researchers are striving to create the largest genetic registry in the nation to help ASD research.

A project called SPARK, funded by the Simons Foundation, has a goal to find information of 50,000 people on the autism spectrum in hopes to represent a small percent of the 3.5 million Americans that have autism. The registry will also provide information on the families of those with autism.

The study will be done by participants sending in saliva, in order to cover a wide variety of minorities that are normally not included in average studies. The researchers will then examine the DNA to sequence each genome protein-coding part.

The criteria that the registry is based on is demographic, family medical and psychiatric histories, and the completion of a questionnaire to analyze the person’s social skills, called the Social Communication Questionnaire. Medical records with a confirmed clinical diagnosis must also be uploaded by the family.

Recruitment is being done through social media reach out and events. The goal is to have 10,000 participants by 2017.

The research study is being led by Wendy Chun, assistant professor of pediatrics at Columbia University in New York, and she believes that the technology advancement is the spine of the registry project.

“The ability of so many individuals to get online, either on their smart phones or from work or home, has allowed us to do things that we could not have done five years ago,” says Chung.

The researchers hope that the details will help families find proper and effective treatment for the children.

Dianna Varady, director of the Arkansas Autism Resource and Outreach Center, believes that the simplicity of the registry will lead to its success.

“It’s about as easy as anyone could make it,” Varady said.

For more information, check out the blog post, Spectrum News.

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