Kevin Hope, a graduate assistant in the Department of Anatomy and Neurobiology in the College of Medicine at the University of Tennessee Health Science Center (UTHSC), has received a grant totaling $100,000 from the Dup15q Alliance. The award will be used to study 15q Duplication, a syndrome that is caused by duplications in a chromosomal region that typically results in cognitive impairments, autism spectrum disorder and sometimes seizures.
Hope is currently in his third year of the Integrated Program in Biomedical Sciences (IPBS) on the neuroscience track in the UTHSC College of Graduate Health Sciences. He works in the lab of Lawrence Reiter, PhD, associate professor in the Departments of Anatomy and Neurobiology, and Neurology in the UTHSC College of Medicine.
This project will help to identify molecular and genetic mechanisms of Dup15q syndrome so that effective therapies can be developed to improve the lives of individuals affected by this disorder, and perhaps, individuals with difficult-to-manage epilepsy. Hope and his research team are particularly interested in investigating the seizures associated with Dup15q syndrome, since individuals with this disorder do not respond well to typical anti-seizure medications.
The majority of Dup15q research has been centered around one gene, UBE3A, which is located in the duplicated piece of DNA. However, other genes are also included in the extra DNA that have not been extensively studied. Additionally, previous research in Dup15q has focused mainly on neurons, which are one type of cell in the brain. Other cell types, such as glia — supportive cells in the central nervous system — have been largely unexplored in Dup15q research.
Hope’s project will use fruit flies to investigate how elevated levels of genes within the duplicated region act alone or potentially with UBE3A to influence various aspects of Dup15q.
“I am honored to have received an award from the Dup15q Alliance,” said Hope. “I look forward to working with them over the next few years, and I hope that my research will directly benefit kids with Duplication 15q syndrome.”
His work may reveal new insights into how these genes, when duplicated, can cause various aspects of Dup15q syndrome including epilepsy and autism.
The Dup15q Alliance provides family support, promotes awareness and targeted treatments for Dup15q syndrome. The organization has facilitated the creation of nine Dup15q clinics in major medical centers around the United States. For more information, visit www.dup15q.org.