More recently, I have been finishing the work begun under Dr. Kunkel's mentorship as I develop two independent scientific projects: (1) electrophysiological investigations in the muscular dystrophies, and (2) genetic analyses of kindreds with various neuromuscular disorders, including muscular dystrophy. The first project arose in part from a desire to continue exploring the scientific questions that arose during my research training from a different perspective. It also complements my interest in clinical electrophysiology, and I ultimately hope to discover new approaches to therapy for muscular dystrophy. The second project is a translational project, and grew out of my clinical expertise as well as the genetic analyses I began performing during my training with Dr. Kunkel. We are investigating several kindreds with interesting variants of known neuromuscular disorders, as well as ones with what appear to be previously undescribed disorders. We are actively enrolling new kindreds. This project has so far resulted in two publications, one in 2006 and another in 2007.

I am also actively pursuing three clinical projects involving: (1) clinical electrophysiology, (2) Cockayne syndrome, and (3) spinal muscular atrophy. My clinical electrophysiological investigations focus on observations in the electromyography laboratory, and yielded 4 papers from 2003 to 2005, with more expected in the future. A collaboration with Dr. Edward Neilan, my colleague in the Division of Genetics, has yielded potential new therapies for Cockayne syndrome, a rare autosomal recessive neurodegenerative disease for which treatments were previously unavailable. I am also responsible for motor unit number estimate (MUNE) analysis at the Children's Hospital Boston site of a multi-center clinical trial on spinal muscular atrophy; our site is directed by Dr. Basil Darras. I welcome new collaborations for any of these projects.