Researchers from The Jackson Laboratory were awarded a 5-year, $22.8M grant from the National Institute of Neurological Disorders and Stroke (NINDS) to implement a novel gene editing-based research tool, known as preclinical genomic editing, to develop promising therapies for rare neurological genetic diseases.

The target diseases are Friedreich ataxia (FA), spinal muscular atrophy, Huntington’s disease, and Rett syndrome.

“There are many obstacles to developing safe, effective treatments for rare diseases, including small patient populations, high costs and regulatory barriers. Our goal is to remove or move past the obstacles, bring a highly promising new therapy strategy to the clinic, and directly benefit individuals with these diseases,” said Cathleen Lutz, PhD, vice president of the Rare Disease Translational Center and principal investigator of the study.

The preclinical genomic editing tool offers the advantage of making precise alterations without cutting the DNA or requiring a donor template.

Read more about FA etiology

The awarded project reunites a multidisciplinary team of researchers with vast experience in developing, validating, and optimizing preclinical mouse models of diseases, and producing virus-based gene-editing therapy delivery to tissues, as well as extensive knowledge on preclinical evaluation of gene-editing therapeutics and investigational new drug (IND) submission.

Their ambition is to shorten the time between preclinical research that has produced promising rare disease therapy strategies and the actual clinical delivery of safe and effective treatments to patients.

Therefore, by the end of the project, Dr. Lutz and colleagues expect to advance at least 1 lead candidate therapy through a successful IND application, thereby revolutionizing treatment for at least 1 target disease. If successful, this project will pave the way for a wide range of rare genetic diseases.

“Genetic mutations can cause some of the most rare and devastating disorders of the nervous system and throughout the body,” said Walter Koroshetz, MD, director of the NINDS and co-chair of the Somatic Cell Gene Editing Program.

“Thanks to large-scale efforts like the Somatic Cell Genome Editing Program, we are starting to bring tools into the clinic to edit out these gene mutations. While there are still challenges to overcome, the level of hope for effective treatments is high.”


Moving preclinical genome editing to the clinic. News release. The Jackson Laboratory; June 2, 2023.