Gene Machine Makes a Big Difference in the Big Easy

07.03.12
Gene Machine Makes a Big Difference in the Big Easy

The Greenwood Genetic Center’s mobile science laboratory, the Gene Machine, attended the 7th World Rett Syndrome Congress in New Orleans last month. The Congress, a meeting of physicians and scientists who specialize in Rett syndrome as well as individuals with Rett syndrome and their families, is hosted by the International Rett Syndrome Foundation. This was the first time this prestigious global meeting has been held in the US.

Rett syndrome is a genetic neurodevelopmental disorder, mainly affecting females, causing a regression of development, seizures, severe language deficits and intellectual disability. GGC is one of four centers in the US participating in the Rett Syndrome Natural History Study funded by the National Institutes of Health.

While in New Orleans, the mobile lab was open for tours by all conference attendees. Additionally, GGC’s Clinical Research Coordinator, Fran Annese, and Genetic Counselor, Lauren Baggett conducted activities onboard the Gene Machine for interested family members to help them better understand the genetics behind the diagnosis of Rett syndrome. Participants engaged in a hands-on laboratory simulation of the Rett syndrome diagnostic testing done at GGC. Dr. Steve Skinner, GGC’s Director, also provided a formal lecture for families, and he and Baggett provided individual consultations onboard the bus to review specific genetic testing results and answer families’ questions.

Paige Nues, Director of Family Support for IRSF and Director of the Congress, invited GGC to bring the mobile lab to the meeting. “Having the Gene Machine at the World Rett Syndrome Congress demonstrated the Greenwood Genetic Center’s commitment to the children and families they serve, showing how much they care about the people behind the test results,” expressed Nues. “These activities were a great way to help explain things to whole families getting everyone, including parents, siblings and grandparents, ‘on-board’! “

“Everyone we met was very impressed with the mobile lab and appreciative of the time we spent educating them on the genetics of Rett syndrome,” said Annese. “They were also excited that we were reaching out with the mobile lab to educate high school students.”
The Gene Machine is available to visit high schools across South Carolina to provide hands-on genetics laboratory activities for students. For more information contact GGC’s Division of Education at education@ggc.org.

Photo: GGC’s Fran Annese (far left) and Lauren Baggett, MS, CGC share the genetics and technology behind Rett syndrome testing with family members of those with the diagnosis.

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The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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