CHARGE lab increases knowledge for students


When Tim Hartshorne’s son Jacob was born, he was different than the rest of the infants delivered that day.

Jacob was one of 15,000 births to carry a rare genetic disease caused by the mutation of a specific gene, commonly known as CHARGE syndrome.

In CHARGE, the C stands for coloboma, which results in a missing piece in the eye. H stands for heart defect. A is for atresia of the choanae, which means that the openings in the back of the nose that allow air to pass are blocked. The R is for retarded growth or development. G is for genital hypoplasia and the E is for ear malformations.

 “The interesting thing about CHARGE is that the kids vary in  the extent of which they are affected by the different anomalies,” Hartshorne said. “I think the most important things about it are the multi-sensory impairments. They have lots and lots of different kinds of sensory issues which makes it very very challenging.”

The sensory impairments include visual impairments, an impaired sense of smell and balance problems because the mechanism that controls balance in the inner ear is malformed.

Hartshorne first decided to focus his research on CHARGE in the mid '90s. When the lab was created, there were only one or two students. Now the lab has grown to have seven active members, both graduate and undergraduate students.

Each student in the lab has a research project they are working in that focuses on some aspect of CHARGE syndrome. The meetings in the lab are directed towards keeping people on task with their projects and seeing if anyone needs assistance.

 “I try to put people into their own projects," Hartshorne said. "It’s a little exhausting for me because I’m supervising lots of projects, but it’s really nice because it give people a sense of identity when they’re in the lab that they are important and what they’re doing is significant.”

CMU steps up

The lab is essential for students when applying for graduate school and is equally important for graduate students who need research and dissertations.

Students get to become an expert in something that not many people know about.

“These guys know more about CHARGE syndrome than some of the professionals in the area of CHARGE syndrome,” Hartshorne said. “They get out there and they get recognized.”

Megan Schmittel, a graduate student in the school of psychology from Warrenton, Mo., said the lab is extremely beneficial in terms of research and gathering ideas for topics and how to conduct them. Traveling is also a regular occurrence when students are a part of the CHARGE lab.

“Being able to bounce ideas off of Tim and your peers is really helpful in that respect. I get social aspects from it because we do have a lot of fun,” Schmittel said. “Being able to travel, meet people around the world, learn different things from different people and spread out and connect with other professionals is great. There are a lot of really amazing opportunities.”

Schmittel is researching the development of social play in kids with CHARGE syndrome and how it could possibly hinder their ability to develop social skills.

“I want to see if social skills develops differently in kids with charge and how that affects their behavior and their self-regulation, because we do see some behavior problems and some social issues in kids with CHARGE,” Schmittel said “I’m kind of wondering if there is a connection between if they have delayed social play, if that’s affecting social skills because play is important in the development of those skills”

Rachel Malta, a graduate student in the school of psychology from Roseville, is planning on working in school systems and hopes that the lab will help her work not only with children with CHARGE, but others as well.

“It’s really great for me to be able to learn about a specific population of students and how best I can support them in the school,” Malta said. “It’s also not just for CHARGE students, because a lot of these characteristics aren’t just for kids with CHARGE, but with deaf or blindness. I could encounter kids that have that in general, and it really helps me learn how best I can address this in the schools.”

When working with kids with CHARGE, Schmittel said it is important to focus on the child and their individualities.

“You really have to look at the child in terms of how you’re going to intervene with them, and you can't just have this kind of catch all intervention,” Schmittel said. “That taught me when I’m working with any child I need to look at the kid as a person. I need to figure out who they are as a person and what kind of challenges they’re facing instead of just changing them.”

Today, Hartshorne’s son is 25 years old and on the low functioning end of CHARGE syndrome.

“It’s the best thing that ever happened to me. He made my career,” Hartshorne said. “Because of Jacob I travel the world. I’m an international expert on something. It’s just wonderful. I thank him all the time. Not everybody does research because of personal interest or personal investment.” 

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