[New York, NY, December 17, 2024] – Jack’s Tomorrow announced a new collaboration with The Jackson Laboratory (JAX) Rare Disease Translational Center to expand its research on PURA Syndrome. The gene overexpression project will intentionally overproduce the PURA gene in mice to determine the health effects, if any, of higher-than-normal amounts of PURA protein in living animals. Gene overexpression studies are vital for advancing gene therapies from the laboratory to clinical trials. They validate genes as safe and appropriate targets for biological therapies and can help guide dosing.  

PURA Syndrome is a neurodevelopmental disorder traced to defects in the PURA gene. The PURA gene directs the production of a protein named Pur-alpha, which is present in all human tissues where it helps copy DNA and make other proteins. Gene therapy to restore, or even amplify, levels of PURA protein in individuals with the disorder may be a promising future therapeutic strategy for this disease characterized by low muscle tone, developmental delays, moderate to severe intellectual disability, seizures, feeding difficulties, and sleep apnea. There are currently over 700 patients diagnosed with this disorder; a number that continues to grow as genetic testing becomes more accessible.  

“We are excited to continue our work with Jack’s Tomorrow,” said Vincent Pons, Ph.D., M.B.A. Associate Study Director, JAX Rare Disease Translational Center. “These new studies complement our current work on PURA Syndrome and will answer an important question about the safety of potential PURA gene-based therapies.” 

In addition to the new gene overexpression project, following acceptance by the JAX Center for Precision Genetics in 2022, the team created three different mice strains, each with the intention to answer specific questions on PURA Syndrome and to test treatments. The team at JAX worked with Jack’s Tomorrow and collaborators to determine the best models to support the PURA Syndrome community and other scientists to learn more about the disease. With the PURA knockout mouse, significant progress has been made; due to the diligence of the JAX team, it has been established as a reliable disease model for PURA Syndrome. 

The PURA gene overexpression study will evaluate the effects of elevated levels of PURA protein in healthy C57BL/6J mice, one of the most widely used laboratory mouse models due to its well-documented genome and broad application in biomedical research. The animals will make PURA protein at levels higher than the typical baseline levels of this protein that is present in all cells. 

JAX researchers will track the mice’s health and weight daily as well as video-monitor them for brain and motor function.  Researchers will collect samples from all mice to assess the potential effects of overexpression on various organs. The study will begin this month, with results expected in 2025. 

Additionally, through the partnership with Jack’s Tomorrow, JAX created induced pluripotent stem cell (iPSC) lines that will be used to test therapeutics affecting PURA Syndrome’s main symptoms on brain function and motor control.  

Jack’s Tomorrow’s diverse portfolio of research aims to understand the mechanism of PURA Syndrome, identify critical functions and downstream targets of the PURA gene, and explore how PURA gene activity is controlled. Through separate research agreements with several leading rare disease research groups in the United States and Canada, Jack’s Tomorrow also funds research with zebrafish and worms to conduct large-scale screening of potential drugs for PURA Syndrome.  

“Jack’s Tomorrow’s evidence-based roadmap provides the most efficient pathway to identifying safe and effective treatments for PURA Syndrome,” said Andrew Steinsapir, Director and Gene Therapy Program Lead at Deerfield Discovery and Development and a member of Jack’s Tomorrow’s Scientific Advisory Board. “The results of these studies will put us on solid ground toward achieving that goal.”