For as long as he can remember, Geoff Rhyne has loved food – especially when he gets to cook it. After all, it was this passion and creativity that led him to become a chef in the first place. So when he had to come up with a fundraising idea to spur Kleefstra syndrome research, after his daughter Ella’s diagnosis, Rhyne went back to what he knows and loves: food. As reported by The Post & Courier Greenville, Rhyne is holding the second annual Southern Roots: A BBQ Reunion on April 20, 2023. Proceeds from the event will support IDefine, a nonprofit organization founded by parents within the Kleefstra syndrome community (including Rhyne himself) that is dedicated to providing community and advancing research.

Ella was diagnosed with Kleefstra syndrome in 2019. Immediately, Rhyne dove into research – but was shocked to learn that there wasn’t a wealth of information out there. More frustratingly, research wasn’t moving forward due to lacking funding. Soon after, Rhyne and other families formed IDefine to make a difference for their children.

This difference has already come to fruition. The funds raised from the first Southern Roots event were used to develop a Kleefstra syndrome clinic at Boston Children’s Hospital. This clinic has worked to gain research funds and run a sleep study, since many children with Kleefstra syndrome often experience sleep disturbances or other sleep-related issues.

Now, this year’s Southern Roots hopes to continue this moment. Over 30 pitmasters and chefs (some of whom are James Beard nominees) are joining together to provide 15 delicious, locally sourced meals. They are all happy to join in for such a meaningful cause.

What is Kleefstra Syndrome?

Kleefstra syndrome is a rare genetic disorder that can affect multiple parts of the body. Normally, EHMT1 produces instructions to create euchromatic histone methyltransferase 1, an enzyme that modifies histones. By adding a methyl group to histones, this enzyme can help suppress gene activity and plays a role in normal development. People with Kleefstra syndrome have a missing or severely mutated EHMT1 gene, which causes the characteristic symptoms of this disorder. Symptoms relating to this condition may include:

• Developmental delays
• Intellectual disability
• Congenital heart defects
• Hypotonia (weak/poor muscle tone)
• Little to no speech
• Genitourinary abnormalities
• Microcephaly (small head size)
• A wide skull
• Rolled lips, a large tongu, and a protruding jaw
• High birth weight
• Childhood obesity
• Seizures
• Severe respiratory infections

For a full list of features, head to kleefasyndrome.org.