[New York, New York, July 16, 2024] – Jack’s Tomorrow today announced a new research collaboration with The Jackson Laboratory (JAX) Rare Disease Translational Center to help develop a laboratory model for functional testing and screening of PURA therapeutics. With funding from Jack’s Tomorrow, JAX will engineer several induced pluripotent stem cell (iPSC) lines. These powerful tools are used to create any cell or tissue in the body, allowing scientists to study diseases in a culture dish.

PURA Syndrome is a neurodevelopmental disorder characterized by low muscle tone (hypotonia), developmental delays, moderate to severe intellectual disability, seizures, feeding difficulties, and sleep apnea. PURA Syndrome is considered a new disease, because the culprit PURA gene was discovered only about 10 years ago. There are currently 650 people living with the disease globally, and new cases are being diagnosed every week due to increased access to sequencing.

The new project with JAX builds upon Jack’s Tomorrow’s strategic investment in research that can one day make a difference in the lives of individuals living with PURA Syndrome and their families. JAX will create several iPSC lines that can be used to test therapeutics that affect the disease’s main symptoms on brain function and motor control.

“We are incredibly grateful to continue to partner with JAX, who are also creating a PURA mouse model,” said Kyle Czepiel, co-founder of Jack’s Tomorrow and Jack’s father. “Their high-quality research and full embrace of data and resource sharing will speed progress toward conquering PURA Syndrome with future precision treatments and cures.”

The research kick-start is especially important to encourage more scientists to study PURA Syndrome. Because researchers need access to cutting-edge tools, Jack’s Tomorrow is strengthening basic and clinical research on PURA Syndrome, toward finding a treatment.

“Jack’s Tomorrow is leading the way toward rapidly advancing the study of rare diseases like PURA Syndrome,” said Vincent Pons, PhD, Associate Study Director, JAX Rare Disease Translational Center. “In this era of artificial intelligence, generating and sharing high-quality data through use of multiple targeted tools like iPSCs and model organisms will be key to taking full advantage of emerging data science strategies to identify precision treatments for rare diseases.”

Currently, no PURA Syndrome therapeutics exist to restore cognitive or motor function. Jack’s Tomorrow is forging ahead with targeted research guided by a research roadmap developed in 2022. The roadmap’s goals include i) understanding the mechanism of PURA Syndrome, ii) identifying critical functions and downstream targets of the PURA gene, and iii) exploring how PURA gene activity is controlled. Jack’s Tomorrow is accomplishing these goals through the development and use of in vitro and in vivo models, including cell lines and animal models.

In addition to this new research and the PURA mouse model work that is under way at JAX, Jack’s Tomorrow is also supporting research in zebrafish, worms, and fruit flies to conduct large-scale drug-screening in these model organisms.

“Through our continued research collaborations with premier institutions like JAX, Yale University, Baylor College of Medicine, and The Hospital for Sick Children in Toronto, every day brings new hope for people and families affected by PURA Syndrome,” said Jean Weinberg, co-founder of Jack’s Tomorrow and Jack’s mother.