Current Research and Scholarly Interests
Our Neuromuscular Division organizes a comprehensive effort to combat and conquer diseases of the peripheral nerves and muscles, including the muscular dystrophies (myotonic, Duchenne, limb girdle, facioscapulohumeral, and congenital muscular dystrophies), motor neuron disorders (ALS and SMA), neuromuscular junction disease (MG, CMS), and peripheral neuropathies (CMT, CIDP). While keeping the patients and families foremost in mind, our research seeks to: define and understand genetic causes; clarify the molecular and cellular consequences of genetic change; determine the multisystemic features that are underappreciated but clinically significant consequence of these diseases; develop and improve methods for managing and treating each disease.
We have identified the genetic cause of several neuromuscular disorders, most notably myotonic dystrophy type 2, which we continue to study to advance understanding of all forms of myotonic dystrophy. We have also contributed to genetic understanding of Duchenne muscular dystrophy, and other muscle and ataxic disorders. We are continuing to investigate the epigenetic and molecular consequences of these diseases through investigation of patient-derived specimens.
We have focused on defining the central nervous system features of neuromuscular disorders, which severely impact patients and families but have been incompletely investigated, explained or managed. Detailed neuropsychological and brain MRI studies are helping to define the developmental and progressive CNS aspects of these conditions, for which we then seek molecular and cellular explanations through cell-based studies of patient-derived specimens.
To assure our research is translatable to clinical practice, we are simultaneously involved in collaborative clinical research on novel treatments for neuromuscular disease, including antisense oligonucleotides and pharmacologic manipulation of muscle function, viral gene therapies and cell-based treatments.
In summary, we work with patients to define neuromuscular disorders more rigorously and understand them more thoroughly, so novel treatments will successfully combat these devastating disorders.
Clinical Research Studies:
2014- “Clinical and Genetic Characterization of Myotonic Dystrophy”- PI: Dr. John Day, MD, PhD
“Clinical and Genetic Characterization of Myotonic Dystrophy-cont.(Sleep Study)”- PI: Dr. John Day, MD, PhD/ Co- Investigators: Dr. Chad Ruoff and Dr. Brian Wandell
2014- “Subject Database and Specimen Repository for Neuromuscular and Neurodegenerative Disorders”- PI: Dr. John Day, MD, PhD
2014-“Insulin Resistance and Insulin Secretion in Patients with Myotonic Dystrophy”- PI: Dr. John Day, MD, PhD/ Co-PI: Dr. Josh Knowles, MD.
2014-“ Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy (CHRI protocol on DM)”- PI: Dr. John Day, MD, PhD/ Co-PI: Dr. Tesi Rocha and Karolina Watson, NP
2014- “CHAR0312 Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping”,- PI: Dr. John Day, MD, PhD/ Co-PI: Dr. Tesi Rocha.
2014-“ A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients with Nonsense Mutation Dystrophinopathy”- PI: Dr. John Day, MD, PhD/ Co-Investigator-Carly Siskind
2014-Clinical Study of Spinal Muscular Atrophy (PNCR/SMAF protocol)".