A Saint Louis University genetic counselor and expert in a debilitating disease that affects one in 10,000 children has teamed up with an information technology professional and master's degree student to create a global database that will help researchers, physicians and parents to better understand the condition.
The disease is called CHARGE syndrome, a pattern of birth defects that is the leading genetic cause of congenital deafness and blindness. An extremely complex syndrome, it includes extensive medical and physical difficulties that vary from child to child. Individuals with CHARGE syndrome often are born with life-threatening defects, including complex heart and breathing problems. (CHARGE is an acronym that takes its name from the first letters of some of the features of the condition.)
Meg Hefner, a genetic counselor and associate professor in SLU's Department of Pediatrics has worked with patients and their families for years and said efforts to research the condition have been stymied by the lack of consolidated in-depth information on people with CHARGE. Parents of children with CHARGE currently are asked to complete a 15-page questionnaire to collect information on themselves and their children, but accessing and using the resulting information has been cumbersome and time-consuming.
"Although families are very eager to participate in research, they quickly tire of providing the same information over and over to different researchers," Hefner said. "In turn, each researcher has collected slightly different information, making collaboration difficult."
Last year Hefner submitted a request for technical support from the Information Technology Services division, where she eventually met Kevin Ballard, a full-time database administrator. Ballard also is a master's degree candidate in health informatics, a discipline that combines information science, computer science and health care.
"I recognized this as a very worthwhile project, so I started talking with Ms. Hefner. After a few conversations, it occurred to me that this project could also serve as my final project," Ballard said.
Together they are creating a sophisticated relational database that will be easily accessible by parents of children with CHARGE syndrome to be completed initially and easily updated later. The database also will be made available to researchers globally who are studying the syndrome.
"Once a significant amount of data is in the database, it will be ripe for reporting, data mining and statistical analysis," Ballard said.
In addition, Hefner has recently established a CHARGE Syndrome Clinic at SSM Cardinal Glennon Children's Medical Center, the first such clinic in the western hemisphere.
"Our hope is that the combination of the database and the clinic will help establish Saint Louis University as a center of excellence for CHARGE syndrome - one of the world leaders in CHARGE syndrome research," Hefner said.