October 25, 2024

Tuberous sclerosis complex is a rare genetic disease that impacts people at all stages of life, from infancy to adulthood. TSC affects approximately 50,000 individuals in the United States and nearly 2 million people globally. The disease causes non-cancerous growths throughout the body, including the skin, brain, eyes, kidneys, heart, and lungs. TSC's impact on the brain affects a patient's quality of life because the disease can cause seizures, developmental delays, intellectual disability, and autism. According to the National Institutes of Health, there is currently no cure for this disease.

Congress first appropriated funds to the Tuberous Sclerosis Complex Research Program in FY02 for research to address gaps in our understanding of TSC. In FY24, the CDMRP received $8 million in congressional appropriations for the TSC research program. These funds bring the program closer to improving the lives of Service Members and their Families, Veterans and the American public.

"Researchers are breaking new scientific boundaries to advance how we understand, diagnose and manage TSC." Stan Niu, Program Manager at the CDMRP, said. "TSCRP-funded research will continue to drive advancements, leading to better patient outcomes and improved health."

The Connection Between Tuberous Sclerosis Complex and Epilepsy

Individuals with TSC are at an increased risk of developing epilepsy. An estimated 80 percent of individuals living with TSC also experience seizures due to TSC-associated epilepsy. This type of epilepsy is linked to developmental delays and attention hyperactivity disorder.

The TSCRP prioritizes understanding, preventing and treating neuropsychiatric disorders, such as epilepsy, associated with TSC.

Here's a look at recently funded FY23 awards in progress, including studies focused on emerging therapies and new tools to improve TSC with epilepsy.

A TSCRP-funded Clinical Translation Research Award led by Liberty Hamilton, Ph.D. at the University of Texas at Austin and Howard Weiner, M.D. at the Baylor College of Medicine, investigates children with TSC and epilepsy. Epilepsy in TSC is often resistant to drug treatment, leading to surgery to reduce or eliminate seizures.

As part of clinical management of seizures after surgery, clinicians insert electrodes into the patient's brain to aid in identifying the location of the seizures in the brain. Using these already-placed electrodes, the team will record electrical activity from the language processing centers of the brain, with the goal to identify how TSC tumors affect brain functions that are important for communication.

This project may guide future surgical approaches and prevent adverse outcomes associated with TSC-related seizures impacting children's communication abilities.

With a TSCRP-funded Idea Development Award, Yunfei Huang, M.D., Ph.D., and his team at Albany Medical College, New York, seek to learn more about how a normal brain transforms into a brain with increased susceptibility to seizures, a process referred to as epileptogenesis. Initial research from the team, funded by other sources, identified microglia, a type of brain cell, as playing a significant role in epileptogenesis.

The team will expand on these initial findings to identify cellular signaling pathways within microglia that promote epileptogenesis in TSC. If successful, this study may not only improve understanding of epileptogenesis, but it could lead to new treatments that stop or alleviate seizures in TSC patients.

About the Congressionally Directed Medical Research Programs

In FY24, the CDMRP received over $1.5 billion in congressional appropriations for 35 research programs dedicated to enhancing the lives of Service Members and their Families, Veterans, and the American public. This funding targets critical gaps in research by focusing on innovative, high impact projects that will lead to cures or improvements in patient care, or breakthrough technologies and resources for clinical benefits.

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