Medical Student Research Fellowship for Summer 2010
Mentor: Dr. Susan Iannaccone
Department: Pediatrics/Pediatric Neurology
Room number: CMC
Mail Code: 9036
Phone number: 214-456-5220
Project title: Limb girdle muscular dystrophies
Human subjects IRB approved project number (where applicable): not obtained yet
Animal subjects IRB approved project number (where applicable): na
Project Type patient-based research
Brief Description of Project:
Limb girdle muscular dystrophies are a large, genetically heterogeneous group of muscle disorders characterized by a specific distribution of weakness, progressive course and a dystrophic pattern on muscle biopsy. Genetic characterization of each case is now very important as new therapies are emerging and new therapeutic trials are expected in the near future.
Through a retrospective chart review, we want to identify all patients with Limb girdle muscular dystrophy seen in the pediatric Neuromuscular clinic, classify them based on their genetic diagnosis and identify their specific clinical features (genotype/phenotype correlation). We are also interested to find out the proportion of patients for whom a specific genetic diagnosis was not reached. This proportion will then be compared to those reported in literature. Review of individual cases may allow specific testing to be pursued.
The medical student will identify all the patients with Limb girdle muscular dystrophy from our internal database and retrospectively review their medical records. Elements to be extracted from the medical record include: genetic abnormalities or mutation analysis, age of onset, clinical features, age at diagnosis, muscle biopsy findings, EMG findings and clinical course.
Previous Research Activities or Publications with Medical Students: ? ?
2004 Erin Buethe Medical Student
Doris Duke Scholar Mentor Wrote protocol for PK study of riluzole in infantile spinal muscular atrophy
2006 - 2007 Sarah Davis Medical Student Doris Duke Scholar Mentor Completed pilot study of HRQOL in Duchenne muscular dystrophy patients
2009 April Taylor Medical Student
Doris Duke Scholar Mentor Completed database of Charcot-Marie-Tooth (hereditary peripheral neuropathy) patients with genotype/phenotype corelation
Davis SE, Hynan LS, Limbers CA, Andersen M, Greene MC, Varni JW, and Iannaccone ST: The PedsQL in Pediatric Patients with Duchenne Muscular Dystrophy: Feasibility, Reliability, and Validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales. J Clin Neuromuscular Disease, In Press, 2010