[New York, New York, May 13, 2025] – Collaboration between The Jackson Laboratory and Jack’s Tomorrow advances a crucial step toward identifying potential treatments.

Scientists at The Jackson Laboratory (JAX) Rare Disease Translational Center, in collaboration with Jack’s Tomorrow, have developed a new mouse model to study PURA Syndrome, a rare neurogenetic disorder. The new model mirrors important aspects of PURA Syndrome in humans and has a strong and consistent phenotype, providing researchers with a reliable tool for studying the disorder and testing potential treatments. Findings from the study that led to the development of the mouse model will be presented at the 2025 American Society of Gene & Cell Therapy Annual Meeting, representing an important step for the advancement of research on PURA Syndrome.

PURA Syndrome is a rare neurogenetic disorder caused by mutations in the PURA gene. The condition can lead to developmental delays, low muscle tone (known as hypotonia), seizures (epilepsy), speech difficulties, and other health challenges. To date, roughly 750 people have been diagnosed with PURA Syndrome globally, across 60 countries — although this number is likely to grow with increased access to genetic testing. Currently there are no approved treatments for PURA Syndrome.

“Our greatest mission is to help people with rare diseases and their families live happy, healthy lives,” said Vincent Pons, Ph.D., M.B.A. Study Director, JAX Rare Disease Translational Center. “We now have a reliable mouse model that scientists can use to study PURA Syndrome, which is crucial for expanding our understanding of the disorder, enabling research on potential treatments, and working toward a cure.”

“The development of this mouse model and its presentation at the ASGCT Annual Meeting represents a milestone moment, putting PURA Syndrome on the map and opening the door to research that was not possible before,” said Kyle Czepiel, cofounder of Jack’s Tomorrow. “We look forward to continuing to partner with leaders in the scientific community to expand the research and to urgently find a treatment for PURA Syndrome.”

To help provide researchers with key tools to study PURA Syndrome, Jack’s Tomorrow — a nonprofit focused on funding research to find a treatment and cure for PURA Syndrome — proposed the development of a mouse model to Cat Lutz, Ph.D., M.B.A., Vice President of the Rare Disease Translational Center at JAX. To create a model that would reliably mirror PURA Syndrome in humans, the JAX team used CRISPR/Cas9 to cut out a portion of one of the two copies of the PURA gene in mice and generate what is known as a “knockout” mouse model (PURA-KO Mouse). This resembles how the condition presents in people, as PURA Syndrome occurs when one of a person’s two copies of the PURA gene is altered.

The researchers found that these PURA knockout mice produced less PURA protein, experienced fatal seizures, and had shorter lifespans compared to the non-altered mice. These results indicate that the new PURA mouse model has a strong phenotype, creating a platform for scientists to study PURA Syndrome and test potential therapies to treat PURA Syndrome.

The team also generated an additional PURA model, which can be used to study PURA gene knockouts in specific organs and tissues (Conditional Knockout PURA Mouse). Researchers can use this model to further understand PURA Syndrome biology in a detailed and controlled manner.

JAX and Jack’s Tomorrow are continuing to collaborate on a number of research projects, including a gene overexpression study to help validate whether the PURA gene is a safe and appropriate target for biological therapies. This research collaboration aims to further scientists’ understanding of the role of PURA, and to help inform the development of potential therapies and treatments.

The poster, #1056, will be presented at the 2025 American Society of Gene & Cell Therapy Annual Meeting, on Wednesday, May 14, between 5:30-7:00 pm CT.

The knockout PURA mouse model and the conditional knockout PURA mouse model are available for researchers to order on the JAX website.