Myotonic Dystrophy (DM) Types 1 and 2

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.

Now Recruiting

Clinical Trials and Studies

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.

unidentifiable female researcher at a bench in the lab

Ongoing RECRUITING

Banking Study

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.

Hand shows the brain in the sun and sky.

ONGOING RECRUITMENT

Work in a 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.

three women working side-by-side in the lab

DM Researchers at the CNG

Laura P W Ranum
Department: Molecular Genetics & Microbiology

Laura P W Ranum

Kitzman Family Professor Of Molecular Genetics And Microbiology; Director Center For NeuroGenetics
Phone: (352) 294-5209
Jodi L Bubenik
Department: Molecular Genetics & Microbiology

Jodi L Bubenik

Assistant Scientist (faculty)
Phone: (352) 273-8156
John D Cleary
Department: Molecular Genetics & Microbiology

John D Cleary

Assistant Scientist
Phone: (352) 273-5847
Belinda Pinto
Department: Molecular Genetics & Microbiology

Belinda Pinto

Assistant Scientist (faculty)
Phone: (352) 273-9236
Sub Subramony
Department: MD-NEUROMUSCULAR NEUROLOGY

Sub Subramony M.D.

Professor
Phone: (352) 273-5000
Maurice S Swanson
Department: Molecular Genetics & Microbiology

Maurice S Swanson

Professor And Associate Program Director
Phone: (352) 273-8076
Lukasz J Sznajder
Department: Molecular Genetics & Microbiology

Lukasz J Sznajder

Research Assistant Professor
Phone: (352) 273-8183
Eric Wang
Department: Molecular Genetics & Microbiology

Eric Wang

Associate Professor
Phone: (352) 273-7601
Tao Zu
Department: Molecular Genetics & Microbiology

Tao Zu

Research Assistant Professor
Phone: (352) 273-5847