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NIH awards MUSC $11.3 million to study autism, other neurodevelopmental differences

MUSC autism lead Dr Chris Cowan

The National Institutes of Health has awarded the Medical University of South Carolina $11.3 million dollars to create a Center of Biomedical Research Excellence, or COBRE, focusing on neurodevelopmental conditions.

Scientist and College of Medicine professor Christopher Cowan, Ph.D., will direct the center. “As I was thinking about developing the COBRE concept, I realized that we had the potential at MUSC to develop a critical mass of researchers and clinicians investigating common neurodevelopmental conditions, such as autism, attention-deficit and hyperactivity disorder and intellectual disability,” he said.

Scientists say there’s a huge need for this work because there’s so much more to be learned about the causes and new treatments for these syndromes. Much of Cowan’s recent research has focused on autism in particular. It’s estimated to affect 1 in 36 people.

“South Carolina, interestingly, has a higher rate of autism compared to other states. And those individuals with an autism diagnosis in our state have a disproportionately high rate of intellectual disability.” The reason for those relatively high numbers is unclear, Cowan said.

“I knew that if we could get support to recruit and strengthen and maintain an infrastructure here, both intellectual infrastructure as well as physical infrastructure, then we can start to make some significant progress at MUSC and across South Carolina understanding and eventually being able to better support autistic people and others.”

The $11.3 million grant funds the first phase of the center’s work, a five-year effort involving the development of that critical mass of investigators Cowan referred to. They’ll be assisted with competing for independent research funding and improving infrastructure in the center’s research area.

Phases two and three would take place in the 10 years following that. The NIH says the overall goal is to create a collaborative multidisciplinary research environment with pilot project programs, mentoring and training.

Cowan said his growing team is well-positioned for the project. “The [COBRE grant] reviewers were really impressed with the caliber of research investigators that we have been hiring at MUSC. We’ve been recruiting talented faculty from research-oriented universities and institutions with international renown. I think the reviewers were very impressed by the cadre of faculty that we have in the pipeline and could see how we could continue to leverage those talents to develop MUSC as a world-class center in understanding neurodevelopment.” 

Another asset: Cowan’s team has already been taking a big-picture approach, working with colleagues at the University of South Carolina, Clemson University and the Greenwood Genetic Center through the South Carolina Autism and Neurodevelopmental Disorders Consortium

“It’s a grassroots group of researchers like me who are interested in various aspects of autism and neurodevelopment. I think the NIH could see that not only was this something that could impact MUSC, but that there are already relationships established across the state.”

Those relationships have borne fruit. Cowan, working with Greenwood Genetics and Clemson, found a difference on the MEF2C gene that appeared both in laboratory research and in patients with autism at Greenwood Genetics. Cowan said it raises new possibilities for treatment.

But the study of neurodiversity is still in its early stages. “Almost everything in biology is an interaction between nature and nurture. And there is an interweaving of those two factors that is really hard to disentangle,” Cowan said.

“My group and many others, including the Simons Foundation, have found that the genetic link to neurodevelopmental differences like autism is quite strong and that understanding the environmental influences, which are varied from individual to individual, are challenging to get a handle on. The focus on genetic factors in autism has been incredibly productive and has greatly advanced our understanding of the underlying biology,” Cowan said. 

“Now that we are getting a handle on the genetics of neurodevelopmental differences like autism, we can begin to understand the function of key genes and to create precision medicine approaches to develop candidate therapeutics for addressing co-occurring challenges in idiopathic autism, intellectual disability and other childhood conditions.” “Idiopathic” means the cause is unknown. 

Technology will be a key part of the new center’s work, which will include both genomics, which is the study of a person’s genes, including how they interact with each other and the environment, and bioinformatics, which involves the use of computer science, math, physics and biology to analyze and interpret genetic data.

Cowan has high hopes that it will all lead to important advances in scientific knowledge about neurodevelopment. “I think we are poised to utilize these funds to make a big impact. I would like to see this evolve from an NIH-based supportive infrastructure grant to larger centers of excellence around autism and related conditions,” he said.

“And I’d love to see us leverage these growing research strengths at MUSC into opportunities to better interface with the autistic community, with the ADHD community and with individuals and families to improve quality of life for people across the state, nation and world.” 

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Tamia Sumpter

Tamia is a driven senior undergraduate Bioengineering student currently enrolled at Clemson University. With a strong foundation in her field, she has honed her skills through hands-on experience in research and development at Eli Lilly & Company. During her time in the ADME department, Tamia contributed significantly by working on siRNAs and their applications in finding In Vitro-In Vivo Correlation (IVIVC). Looking ahead, Tamia has set her sights on a promising career in law. She aspires to specialize in Intellectual Property Law, with a particular focus on serving as in-house counsel for leading medical device or pharmaceutical companies. Her enthusiasm for this role is palpable as she prepares to embark on her legal journey! She is also a proud member of the Omicron Phi chapter of Delta Sigma Theta Sorority, Inc., PEER Mentor for Clemson PEER/WiSE, and currently serves as the President of Clemson Bioengineering Organization (CBO). With her unique blend of scientific knowledge and legal interests, Tamia is poised to make a meaningful impact in the healthcare and life sciences industries.