Myotonic Dystrophy (DM) is a multi-systemic inherited disease that affects at least 1 in 2,100 people or over 150,000 individuals in the US alone (Johnson et al, Neurology 2021). It affects newborns, children and adults and is one of the most genetically diverse diseases studied. DM affects all tissues in the body, although its’ name is derived from the hallmark myotonia (an inability to relax muscle after contraction). Other symptoms include muscle weakness and wasting, cardiac arrhythmia, profound hypersomnia and fatigue, cognitive deficits, and gastrointestinal distress.
Myotonic Dystrophy is one of the most variable and complicated disorders known. The systems affected, the severity of symptoms, and the age of onset of those symptoms vary greatly between individuals, even in the same family. In general, the younger an individual is when symptoms first appear, the more severe symptoms are likely to be. However, prognosis is as variable as the symptoms of this disease.
Our Research on DM
Our research on DM involves understanding the role of the repeat expansions (CTG for DM1 and congenital DM1, CCTG for DM2) in RNA processing defects and repeat associated non-AUG (RAN) proteins associated with the disease. Understanding, monitoring, and countering the effects of the toxic RNA on RAN proteins in the cell is a major focus of our research.
Get Involved with Research
If you would like information about any of the opportunities listed below, please contact Deborah Morrison.
We are currently recruiting for a variety of trials and studies. Click the link below to learn more about our work and to see if you’re eligible.
Patients with neurodegenerative diseases being treated at the Fixel Institute may participate in these ongoing studies. The goal is to collect biospecimens to study in the lab.
Are you a passionate student or post-doc looking making to an impact on Neurogenetic research at the University of Florida? Candidates are encouraged to contact individual CNG faculty members to inquire about research opportunities in the CNG.