Lab Members
Principal Investigator
Dr. Jim Dowling
MD, PhD, Professor of Neurology and Genetics
Email
Dr. Jim Dowling is a clinician-scientist focused on gene discovery and therapy development for neurogenetic and neuromuscular diseases across the lifespan. He is currently a Professor of Genetics and Neurology at the University of Pennsylvania and Director of the PNTC. He is also a staff clinician and scientist at the Children's Hospital of Philadelphia. He joins the PNTC from the University of Toronto and the Hospital for Sick Children, where he was a staff clinician, senior scientist, and Mogford Campbell Family Chair of Paediatric Neuroscience. Dr. Dowling received his BSc and MSc from Yale University and his MD/PhD from the University of Chicago. He did his residency in child neurology at Children's Hospital of Philadelphia and completed postdoctoral research at the University of Pennsylvania and the University of Michigan.
In addition to his clinical and research programs, he has held several leadership positions, with TREAT MMD, World Muscle Society, the Canadian Pediatric Neuromuscular Group, and the Ontario Provincial Genetics Program. He continues to serve on several advisory boards in academia, non-for-profit groups, and industry including the US Muscular Dystrophy Association and the RYR1 Foundation.
Staff
Rachel earned her PhD from Johns Hopkins in 2013 and has been at Penn ever since. She enjoys mentoring younger scientists and helping to develop the Dowling Lab research program at Penn. When she isn’t in lab, she enjoys spending time with her boys, the Philly theater scene, and watching Jeopardy.
Rachel Stine
Gui works on developing gene therapies for Nemaline Myopathy using Zebrafish models.
Gui Hu
Shiva's research focuses on understanding how mutations in RYR1, with environmental heat exposure and epigenetic regulation, influence susceptibility to malignant hyperthermia and environmental heat stroke by using mouse models and multi-omics approaches.
Shiva Shrestha
Zachary completed his PhD at Johns Hopkins in Human Genetics and did his post-doc in cancer metabolism at the University of Pennsylvania. His research focuses on gene therapy and the development of disease models for assessing gene therapy.
Zachary Stine
Amethyst Aragon
Kehinde assists with mouse husbandry, behavioral assays, tissue collection, histology, and day-to-day laboratory operations.
Kehinde Adeaga
Postdoctoral Fellows
Matt completed his PhD at UPenn where he studied mechanisms controlling pancreatic beta cell regulation of glucose homeostasis. As a postdoc, he studies the role of MTM1 in XLMTM & muscle development. Outside the lab, he enjoys exploring Philly, trying new foods, & spending time with loved ones.
Matthew Haemmerle
Dr. Wright studies how pediatric genetic diseases affect gastrointestinal function. She is interested in understanding why bowel dysmotility occurs in diseases such as myotonic dystrophy, and in using intestinal organoid models to uncover disease mechanisms and identify therapeutic targets.
Christina Wright
Kengo’s previously researched the disease mechanisms of congenital muscle disorders and developing novel therapies. In the Dowling Lab, he is working on developing genetic therapies for NEB-related nemaline myopathy.
Kengo Kora
Graduate Students
Yingxuan’s research investigates the molecular mechanisms and immunological determinants of progressive liver disease in XLMTM, focusing on how MTM1 deficiency-induced lipid dysregulation drives systemic innate immune hyperactivation. She aims to improve the safety of AAV gene therapies.
Yingxuan (Cynthia) Zhu
Aastha’s research focuses on ADCA-DN, a rare neurodegenerative disorder. She is working to study the mechanism of disease and developing gene therapy approaches, including base editing and ASOs, to restore neuronal function in mouse and iPSC-derived neuronal models of ADCA-DN.
Aastha Gandhi
Sophia studies how muscle expression of phosphoinositide kinase, Pik3c2b, modulates whole body metabolism. Her work aims to understand novel pathways that can reduce obesity and be targeted as an alternative therapeutic to GLP1's. She uses AAV and RNAi based gene therapies in her studies.
Sophia Han
Maggie's research focuses on identifying genetic regulators of nonsense mutation-associated pathways and developing genetic therapies for rare inherited diseases.
Meijie (Maggie) Pan
Haploinsufficiency (HI) occurs when loss of one gene copy leaves the remaining healthy allele unable to produce enough protein. Angela develops gene therapies using ASOs and CRISPR activation to boost healthy allele expression and treat HI diseases.
Angela Nan
Laminopathies are disorders caused by pathogenic LMNA variants. Jane’s research focuses on LMNA-related congenital muscular dystrophy, developing base-editing strategies to correct common variants, and restore muscle function in patient-derived iPSC models, including 3D muscle and cardiomyocytes.
Jane Thompson
Sara’s research explores how dysregulated RNA processing contributes to neurodevelopmental disorders, with the goal of translating these insights into genetic therapies for neurodevelopmental disorders.
Sara Serdy