Taconic Biosciences has announced that it will fund the development and breeding of a custom mouse model to study Vici Syndrome. Taconic is donating the work as a Corporate Sponsor and Ultimate Technology Sponsor of the 2015 Rare Disease Science Challenge: Be HEARD. The winning project was submitted by Michael and Rachel Harris, whose 9-year-old son David was diagnosed with Vici Syndrome in early 2015.
Hosted by the Rare Genomics Institute, the Rare Disease Science Challenge is an annual event in which industry sponsors donate services to accelerate rare disease research. From a field of 60 applicants, the winning project was selected for the Taconic-sponsored award valued at $50,000.
“Development of a relevant mouse model is a critical first step in understanding the mechanisms of rare diseases like Vici Syndrome and ultimately developing effective therapies,” said Bob Rosenthal, CEO, Taconic Biosciences. “Taconic will make the first step possible by delivering an integrated solution which leverages our comprehensive portfolio of model generation, breeding and cryopreservation capabilities in support of this vital work.”
Vici Syndrome is a rare, severe congenital multisystem disorder characterized by a failure to develop the corpus callosum region of the brain, along with cardiomyopathy, cataracts, hypopigmentation of the skin, eyes and hair, and combined immunodeficiency. Taconic will employ technologies such as CRISPR gene editing to develop a model with the specific EPG5 gene mutation demonstrated to recur in patients in multiple families. Taconic will also breed a cohort of mice for the participating researchers’ use and cryopreserve the line to safeguard against genetic drift or natural disasters.
The two investigators on the project see the Taconic model as essential to elucidating how the disease progresses and the therapies it may respond to. “Apart from its recognized role in the autophagy pathway, a fundamental intracellular quality control mechanism, the EPG5 gene offers no clues to its more precise function(s); we don’t know how it operates and the impact of the mutation is unpredictable,” said Mathias Gautel, BHF Chair of Molecular Cardiology at King’s College London BHF Research Excellence Centre. “We hope this model will help us unravel the basic biology of Vici syndrome and eventually identify therapies and screen compounds.” He added, “Working with Taconic, the speed at which we can get to a usable colony is much faster, and speed is a major factor.”
Heinz Jungbluth, Reader and Consultant in Paediatric Neurology at the Children’s Neuroscience Centre at St. Thomas’ Hospital in London, noted that “Vici Syndrome is one of the most extensive conditions I’ve encountered in my clinical practice over the years, and there’s been a lack of suitable models that accurately replicate the phenotype seen in humans. The Taconic model will help us conduct research with the potential to lead to therapeutic approaches that can ameliorate some of the disease symptoms.”
Michael and Rachel Harris view the availability of a mouse model specific to the disease as critical to the future of their son and other patients. “Through the model we hope researchers will find therapies that can dramatically improve the quality of life for David and others with Vici Syndrome,” Rachel said. “Because the model will have the exact gene mutation that is seen in multiple families with the condition, we expect it will help researchers understand how the disease progresses and then test new therapeutic approaches,” said Michael, a researcher at Georgetown University.