Genetic muscle disease in horses
Our long-term research goals are to develop genetic tests for equine muscle diseases including PSSM2, RER, dystrophic and non-dystrophic myotonia and some forms of malignant hyperthermia that allow horse owners, veterinarians and breeders to identify individuals at risk for developing muscle disease prior to the onset of clinical signs, allowing early intervention and informed breeding decisions; and identify the functional alleles underlying these diseases, allowing for a deeper understanding of how these mutations disrupt normal muscle function, which will eventually allow us to develop specific targeted therapies.
Equine Metabolic Syndrome (EMS)
Equine Metabolic Syndrome (EMS) is characterized by three main features: obesity or regional adiposity (accumulation of fat in certain areas, particularly the neck), insulin resistance (IR) a “pre-diabetic” like state, and laminitis in horses and ponies.
Equine Recurrent Uveitis (ERU)
Equine recurrent uveitis (ERU) is the leading cause of equine blindness, resulting from chronic and painful episodes of inflammation in the uveal tract of the eye. A definitive inciting cause for uveitis has not yet been determined; however, the inflammation is widely thought to be due to an immune-mediated reaction in genetically susceptible animals.
Equine Pituitary Pars Intermedia Dysfunction (PPID)
Equine Pituitary Pars Intermedia Dysfunction (PPID) is a commonly recognized condition in the older horse population that can lead to significant losses affecting horse owners, trainers, breeders and veterinarians, ranging from loss of use to death. Our lab is actively investigating a potential genetic component to the development of this condition by identifying mutations within candidate genes linked to Parkinson’s and other neurodegenerative pathways.
Gray Horse Melanoma
Melanomas are a tumor of the melanocyte, the skin cell that produces pigment which gives the skin and hair its characteristic color. Melanomas are common in aging gray horses, with an incidence of 80% in gray horses older than 15 years old.
Osteochondrosis (OC) falls within the constellation of developmental orthopedic disorders and is very common in horses as well as other species. OC is caused by a failure of normal cartilage development at the end of long bones (such as those found in the legs) and vertebrae (in the neck and back).