Major grant boosts SIU’s genetic therapy research

In a laboratory at Southern Illinois University School of Medicine in Carbondale, scientists are working quietly but ambitiously toward a future that could change the outlook for families affected by rare neurodevelopmental disorders. At the center of that work is Phil Jensik, PhD, associate professor in the Division of Molecular and Integrative Physiology, who has laid out a multi-year plan to tackle a rare but serious disorder known as DEAF1‑Associated Neurodevelopmental Disorder (DAND).

The lab recently received a major boost when the Nancy Lurie Marks Family Foundation awarded nearly $800,000 over four years to advance Jensik’s research. The funding strengthens SIU’s research capabilities and offers hope for families seeking advanced treatments close to home.

From curiosity to commitment

An Illinois native, Jensik earned his master’s and doctoral degrees at SIU. He joined the Carbondale campus as a technician and worked his way up to associate professor, driven by a fascination with how genes govern brain development.

“We study a gene called DEAF1,” Jensik said. “We want to understand its role in neurodevelopment and what happens when it’s mutated.”

Mutations in DEAF1 were first linked to autism spectrum disorder and intellectual disabilities in 2014. Jensik seized on the discovery, and his lab has since mapped how the mutations alter the gene’s DNA-binding domain and disrupt key brain-cell functions. His team, including veteran research technician Stacy R. McGee and Ph.D. student Oluwatosin Tewogbola, have developed model systems to study the impact of DEAF1 loss or mutation.

A grant to expand treatment possibilities?

The Nancy Lurie Marks Family Foundation, one of the Nation’s leading supporters of autism research, has long emphasized genetics, neurobiology and systems biology in its funding portfolio. The foundation awarded the grant to Jensik’s team starting October 1, 2025, for four years, totaling $798,960, subject to progress reports in 2027. The project has full institutional backing from SIU School of Medicine and the SIU system, including access to equipment, lab space and personnel support.

The funding will help Jensik’s team:

• Develop an adeno-associated virus (AAV)-based delivery system to target DEAF1 variants. This delivery system uses a re-engineered AAV virus to carry therapeutic genetic material into cells to treat genetic diseases.
• Determine a therapeutic window for DEAF1 replacement.
• Test a potential DAND genetic therapeutic system in two genotype-appropriate models of DAND.

 
 “Competitive research support like this from the Nancy Lurie Marks Family Foundation highlights the excellence of our faculty, students and research at SIU,” said Don Torry, associate dean for research at SIU School of Medicine. “We’re grateful for their partnership in advancing Dr. Jensik’s innovative work on neurodevelopmental genetics and strengthening SIU’s role as a regional leader in biomedical research.”

Why it matters, and how it helps

Although DAND is rare genetic disorder, this is also true for many neurodevelopmental and psychiatric disorders. Studies estimate that up to 80 percent of these disorders stem from genetic changes, and DEAF1 is considered a high-confidence autism risk gene.

For patients and families in central and southern Illinois, this research matters. Rather than travel long distances to major metropolitan medical centers, this research focuses on building capabilities right here in Carbondale. By investing in this research locally, SIU is signaling that the region can be part of the innovation ecosystem, not just a passive recipient of outside breakthroughs.

Traditional treatments focus on symptom management. Jensik’s approach targets the underlying genetic cause, potentially offering treatment options for people who currently have limited or no treatments available.

“With the support of Nancy Lurie Marks Family Foundation, SIU School of Medicine and the SIU system, I hope the results from this grant will provide a step forward for local research and for the DAND families,” Jensik said.