Current Trainees
Juan Arboleda
My graduate work has involved developing a novel DM1 CNS mouse model by driving repeats in excitatory CamkIIa-expressing neurons, in collaboration with the Bassell lab in Emory University using the TREDT960i mouse originally generated in the Cooper Lab. I am also working to understand molecular mechanisms driving sleep dysregulation and increased sensitivity to anesthesia seen in individuals living with DM1, by using novel and previously established CNS mouse models of DM1, including the TREDT960i; CamkIIa-tTA, Mbnl2 KO, and DMPK-480 KI mouse lines.
Mackenzie Davenport
Mackenzie received her PhD in Genetics, Genomics, and Bioinformatics from the University of Alabama at Birmingham. Mackenzie is currently a postdoctoral fellow in the laboratory of Dr. Maurice Swanson in the University of Florida Center for NeuroGenetics, where her research focuses on muscle regeneration and muscle wasting in myotonic dystrophy.
Cameron Niazi
My graduate research investigates unexplored pathogenic effects of RNA foci in myotonic dystrophy type 1 (DM1) as well as improving gene therapies for muscle diseases. I focus on understanding how the MBNL family of RNA binding proteins interact with expanded DMPK mRNA in DM1, and explore the possibility that MBNL may tether its normal target RNAs into RNA foci, potentially contributing to disease pathogenesis. Additionally, I work on enhancing gene therapy strategies for skeletal muscle by increasing therapeutic cargo efficacy and distribution, and testing novel approaches such as epigenetic silencing to address muscle diseases more effectively.
Emma Shea
My research focuses on developing and testing muscle treatments for DM1 and DM2. My initial work used peptide-conjugated-repeat-targeting PMOs to rescue DM phenotypes. We also used these fast-acting PMOs to prove that transcript rate of replacement can impact observed splicing rescue during dynamic shifts of MBNL. Now, I am interested in exploring other therapeutic platforms, including some with different therapeutic mechanisms. Additionally, my research aims to elucidate the lifecycle of the expanded DMPK transcript, especially in response to treatment with various therapeutics, and specifically, the contribution of nuclear vs cytoplasmic degradation pathways that may be involved in turning over expanded DMPK transcripts.
Laura Tufano
Laura is a neurologist and neuromuscular specialist. During her residency, her primary research interests were focused on muscle diseases, particularly Myotonic Dystrophy type 1. Her research explored muscle histology-MRI matching in muscle diseases and the development of outcome measures for Myotonic Dystrophy type 1. After completing her residency at Sapienza University of Rome in 2023, she transitioned into a PhD program to continue her research studies, under the mentorship of Dr. Matteo Garibaldi. Currently she is working on clinical research projects on Myotonic Dystrophy at the University of Rochester, where she is mentored by Dr. Johanna Hamel. She has been evaluating the test-retest reliability of remote functional assessments and sleep data collected through wearable devices as part of the REACH-DM project. In addition, Laura is focusing on Central Nervous System involvement of Myotonic Dystrophy as captured by the National Registry.