Preclinical firms donate mouse models for rare disease study
The preclinical services company says it will donate the models to the Rare Disease Science Challenge: Be HEARD, an annual event at which industry sponsors donate services to help rare disease research.
Taconic is one of the sponsors of the event and has funded a $50,000 award to a project on Vici Syndrome submitted by Michael Harris, a biomedical informatics researcher at Georgetown University, D.C., and the father of a Vici patient.
“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 Harris, a researcher at Georgetown University.
CRISPR tech
The disease is a rare, severe congenital disorder which prevents the corpus callosum region of the brain from developing. Patients also suffer from cardiomyopathy, cataracts, hypopigmentation of the skin, eyes and hair, and combined immunodeficiency.
Taconic will use CRISPR technology to develop a model with the EPG5 gene mutation found in Vici patients. It will also cryopreserve the mice to safeguard against genetic drift or natural disasters.
Project investigators at King’s College London and St Thomas’ Hospital, London, aim to use Taconic’s model to identify therapies and screen compounds.
“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 functions; we don’t know how it operates and the impact of the mutation is unpredictable,” said Mathias Gautel, chair of molecular cardiology at King’s College’s British Heart Foundation Research Excellence Centre. “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, a paediatric neurologist at St Thomas’ added “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.”
Software donations
Other companies are donating their services to rare disease research via the BeHEARD (Helping Empower and Accelerate Research Discoveries) awards. Jackson Laboratory is providing mouse models and repository mouse strains for a variety of diseases. Biovista has donated its drug repositioning services for the study of acid sphingomyelinase deficiency, and companies Tute Genomics, Cypher Genomics, Maverix Biomics, and DNA Software have contributed design and genome analysis software.
