Our approach is constantly evolving with the diseases we are studying, the horses and tissues we have available and the expertise of our collaborators. The Neuromuscular Diagnostic Laboratory receives muscle samples from referring veterinarians that we use as the basis for our research. We develop confidential relationships with owners of horses affected by the specific diseases we are studying, perform epidemiologic studies to define the diseases and their inciting causes and in some cases take donation of horses for further study. We also collect samples by travelling to farms and obtaining muscle biopsies from horses to support our research. None of the names of horses, owners or farms are ever disclosed. We often perform a physical and neurologic examination of the horses, take photos and videos and take a blood sample to isolate DNA. Depending on the disease we are studying, we may obtain a muscle biopsy sample using a needle the size of a ballpoint pen, which does not affect the horse’s ability to train the next day. We currently have a database of over 5,000 muscle biopsies and 10,000 DNA samples from horses with a variety of neuromuscular disorders and from healthy
Our laboratory techniques are constantly evolving. Currently, we use histopathologic analysis of frozen sections, histochemistry, immunohistochemistry and immunofluorescence, enzyme and substrate assays and gene expression profiles to characterize diseases. For disorders with a suspected genetic basis, genome wide association analysis (GWAS), whole genome sequencing and Sanger sequencing are used to locate and specifically identify genetic variants associated with disease.