Please note: this program is NOT available for non-interactive CE credit.
David Mack, PhD
April 22nd, 2020
This is a phenomenal medical breakthrough story with a canine hero. Dr. Mack’s laboratory is dedicated to developing therapies for childhood neuromuscular diseases, including the devastating congenital muscle disease, X-linked myotubular myopathy. This debilitating ailment causes weakness in all skeletal muscles and the diaphragm, leading to death in 50% of boys before the age of two. Those who survive are confined to a wheelchair and around-the-clock ventilator dependence. This is story of a mother’s love and devotion for her stricken son. Joshua Frase was born with XL-MTM and kept alive only by extraordinary palliative care. Two books and a movie will chronicle her journey to eventually find Vic Wagman, a cowboy in Saskatchewan, Canada who owned, “Nibs”, a Labrador Retriever female carrier of this disease.
Studies using “Nibs” and her progeny have resulted in a gene transfer technology producing tremendous results. In puppies treated with this new product, affected dogs that would otherwise be dead, are able to run and play with their normal littermate controls. Histology of muscle biopsies from affected+treated dogs is indistinguishable from normal, demonstrating that this therapy has corrected the root cause of the defect. Clinical trials in people are equally encouraging, with all treated boys no longer being ventilator-dependent and several of the boys are starting to walk.
This isn’t the only story of this kind. Canine models for Glycogen Storage Disorder type 1a was found at a breeder in North Carolina and a model for Pompe’s Disease was found in Norway. Dr. Mack is hopeful that, by making veterinary professionals aware of the links between canine and human neuromuscular disease, more canine patients with the capability to improve both human and veterinary medicine can be identified.
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