Posted 2/21/2013 12:02 AM by Nicole Garneau | Comments
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. In Myotonic Dystrophy it is a problem of addition, the DNA of patients show multiple repeats of the nucleotides “CTG” in a gene called DMPK. This gene codes for a protein in skeletal muscle, and the higher number of repeats in the gene directly corresponds to an increase in the severity of muscle wasting that characterizes the disease. Join us as we host Dr. Alexa Dickson, who will review how researchers study genetic diseases like Myotonic Dystrophy and will present new data using these techniques that are helping doctors to better understand and treat Myotonic Dystrophy.
Alexa is a Postdoctoral Fellow at Colorado State University with PI: Carol Wilusz, PhD.