GGC's Jones to Present Autism Panel at International Conference

04.16.12
GGC's Jones to Present Autism Panel at International Conference

Julie Jones, PhD, Director of the Molecular Diagnostic Laboratory at the Greenwood Genetic Center, has been selected to participate in the Roche-Nature Medicine Translational Neuroscience Symposium: Autism Spectrum Disorders – From Biological Understanding to Therapeutic Strategies. Jones is one of 50 attendees chosen to attend this event which will take place in Buonas, Switzerland on April 23-25. She will present GGC’s 62-gene panel for the diagnosis of syndromic autism.

The symposium aims to bring together the world’s most distinguished scientists and academics in the areas of autism and neurodevelopmental disorders to share their latest work. The objectives of the meeting are to discuss recent advances and to explore how insights from other developmental brain disorders can illuminate the quest to understand the biological basis of autism.

“I am very pleased to have been selected to attend this symposium and share the autism testing panel that we have developed here at GGC,” said Jones. “Understanding the causes of autism has been a longstanding interest of both mine and my GGC colleagues. This symposium will provide invaluable information and potential collaborations as we aim to better understand, diagnose and eventually treat and prevent autism.”

GGC spearheads the South Carolina Autism Project, an ongoing effort to identify the causes of autism. Jones’ current research focuses on the idea that epigenetic modifications influencing gene expression may cause some genes on the X chromosome to be either overexpressed or underexpressed in the brains of individuals with autism. This could explain the male predominance as well as the generally sporadic occurrence of autism.

GGC’s 62-gene Syndromic Autism Panel, developed in collaboration with Emory Genetics Laboratory and RainDance TechnologiesTM, will provide comprehensive genetic testing for a subgroup of individuals with autism in which the autistic features are part of a coexisting genetic disorder.

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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