Genetics can solve many complex questions about disease and the human body, and when science is met with passion, incredible discoveries can result. In the case of discovering AHDC1 deficiency, also known as Xia-Gibbs Syndrome, Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor, had personal motivation to solve the puzzle of what was behind his grand-niece’s genetic condition.
Originally the first case of its kind, once Gibbs and his colleague, Fan Xia, identified the genetic root of the condition, they were able to connect with other physicians and researchers to identify 31 additional cases across the globe. “I think there are hundreds of families living with this condition worldwide,” Gibbs said.
Xia-Gibbs Syndrome is characterized by cognitive developmental delay, low muscle tone, sleep apnea, mild dysmorphia, seizures and delayed speech.
Many of these families have been able to connect and network through social media groups dedicated to the condition. When Gibbs’ niece connected with one patient family who lives in Clear Lake, she and Gibbs, along with the local family, decided to plan a family retreat in the area, inviting these affected families to come together for a family-friendly weekend of activities, education and support.
“The ultimate goal in bringing these patients and their families together is to create a network for studying and eventually curing this condition,” Gibbs added.
All in all, 15 families, or about 80 people, signed up to travel to the Houston area for the symposium, which was held April 21-23.
The symposium also fostered research, offering a phlebotomist to collect blood samples from willing participants in order to further the study and understanding of how the condition behaves in different people.
Several expert colleagues and collaborators joined in the effort to educate, understand and research the Xia-Gibbs Syndrome, many of whom spoke to the families at the event. In addition to Gibbs and Xia, the symposium hosted Drs. James Lupski, Amy McGuire, Jennifer Posey, Yunyun Jiang and Michael Wangler, among others, who presented about the Human Genome Project and DNA developments, the discovery of the condition, genetics and childhood diseases, the genome ethics debate and the mechanism for Mendelian disease.
“It was exciting to be part of this program, where researchers and families affected by this rare genetic condition are partnering to advance the science in important ways,” said Dr. McGuire, director of Baylor’s Center for Medical Ethics and Health Policy. “The symposium offered an opportunity for families from around the globe to meet and support each other, and for them to engage with scientists and learn about opportunities to participate in research to help improve our understanding of this rare condition.”
“It is overwhelming to see the supportive response from so many of my peers to advance the understanding of this disease” Gibbs said. “The Baylor clinical and scientific teams are among the best in the world and donating their time means so much to the childhood diseases community.”