Identifying Genetic Cause
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.
Central Nervous System Features
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.
We are applying new computational techniques, including supervised and semi-supervised machine learning algorithms, to previously collected MRI, DTI, and neuropsychological testing datasets to gain insight into complicated signatures and effects of myotonic dystrophy and similar neurodegenerative diseases on the brain. Our methods can identify and predict myotonic dystrophy based on both long-term and short-term fluctuations caused by the disease process with a high level of accuracy, sensitivity, and specificity. Additionally, we are developing DM brain biomarkers using white matter tract profiles spectral content and energy.
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.