It takes a committed community to develop effective treatments for a new disease. With that hope, scientists and families will come together in a Houston suburb July 30- Aug. 2 to build up the community around Christianson Syndrome, a genetic intellectual disability disorder, often associated with autistic features, first discovered 16 years ago.
In fact, the retired South African scientist who made the discovery, Arnold Christianson, will be one of more than a dozen scientific speakers during the the first-ever, international scientific conference about the disease. Those proceedings will be integrated with the second meeting among families of the Christianson Syndrome Association, founded by Deborah Nash, of Cypress, Tex., who has a son with the disorder. The first family meeting occurred at Brown University in June 2013.
Boys with Christianson Syndrome often develop moderate to severe intellectual disability, epilepsy, inability or difficulty with walking and talking, attenuated head and brain growth, and hyperactivity. Another trait of the condition, however, is an unusually happy demeanor. Scientists, including speaker Petter Stromme of the University of Oslo, have found that the disorder is caused by a genetic mutation in the SLC9A6 gene on the X chromosome. The mutation turns out to disable production of a neurodevelopmentally important protein called NHE6.
The conference at the Hyatt Place Hotel in The Woodlands, Tex., will unite scientists, patients and their families, said Dr. Eric Morrow, an associate professor at Brown University and psychiatrist at the E.P. Bradley Hospital in East Providence, R.I. In 2014, Morrow published the first diagnostic criteria for the condition.
"One of the things that's really exciting about this conference is it's bringing together people from all aspects of the science, from very basic to clinical research, and that's a pretty disparate group," said Morrow, who co-organized the conference with Professor Steven U. Walkley of the Albert Einstein College of Medicine including obtaining funding from the National Institute of Neurological Disorders and Stroke and The Company of Biologists. "Bringing people from different parts of the problem together will help define the most important questions and drive the field as it brings about answers to those questions. Those networks will be in place."
The keynote speaker, Baylor University pediatric neurologist Huda Zoghbi, has worked for decades on Rett Syndrome, providing a model for where Christianson Syndrome research could lead, Morrow said.
About a dozen families, meanwhile, are coming from distances near and far. The Kloss family, for example, will attend thanks to the support of their supporters and neighbors in Ingersoll, Ontario.
Morrow is coming from Brown with about a dozen people, including a high school student who is working with him for the summer, undergraduates, graduate students, postdocs and colleagues Julie Kauer, professor of neuroscience and John Robson, administrative director of the Norman Prince Neurosciences Institute.
At the conference, that dozen will be take part in a greater sum.
"I would like to build an international network for clinical research and treatment for this community," Morrow said. "In any one community such as Rhode Island the number of families might be small, but across the world this condition affects a bigger number of people."