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Office
4260 Plymouth Rd
Ann Arbor, MI 48109Phone+1 734-764-6831
Summary
- I am the inaugural Bucky and Patti Harris Collegiate Research Professor of Neurology at the University of Michigan. As a physician scientist, I head a translational research lab focused on inherited neurodegenerative disorders. We study how nucleotide repeat expansions cause or contribute to human diseases, including Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Fragile X-associated disorders (FXS and FXTAS), Myotonic Dystrophy, and Huntington’s Disease. We utilize models in drosophila, mice, cell culture, and human tissues to explore the mechanisms underlying these disorders with a long term goal of identifying novel therapeutic targets. Much of our current research focuses on how repeat expansions trigger a non-canonical translational initiation process known as repeat associated Non-AUG (RAN) translation and what consequences this process has on neuronal function and neurodegeneration. Additional studies are exploring other mechanisms by which disease associated RNA repeats are pathogenic.
In addition to my work as a scientist, I am a board certified neurologist with subspecialty training in movement disorders and neurogenetics and an expertise clinically in inherited neurodegenerative disorders. I regularly see patients with Frontotemporal Dementia, ALS, and other neurodegenerative disorders at the University of Michigan and Ann Arbor VA neurology clinic. I direct the Neurogenetics Clinical Research Program at UM aimed at improving our approach to obtaining genetic diagnoses in patients with neurological disease. I co-direct the UM Fragile X clinic and UM Cerebellar Ataxia clinic, both of which draw patients from across the country.
Education & Training
- University of MichiganFellowship, Neuromuscular Medicine (Neurology), 2008 - 2010
- University of Pennsylvania Health SystemResidency, Neurology, 2005 - 2008
- University of Wisconsin School of Medicine & Public HealthClass of 2004
Certifications & Licensure
- MI State Medical License 2008 - 2027
- PA State Medical License 2004 - 2008
- American Board of Psychiatry and Neurology Neurology
Awards, Honors, & Recognition
- Michigan Medicine Dean’s Award for Basic Science Research University of Michigan, 2017
- Hagerman Award for groundbreaking research on Fragile X-associated disorders National Fragile X Foundation, 2014
- S. Weir Mitchell Award American Academy of Neurology, 2010
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Publications & Presentations
PubMed
- Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.Kinsey Van Deynze, Camille Mumm, Connor J Maltby, Jessica A Switzenberg, Peter K Todd
Nucleic Acids Research. 2024-12-16 - Stress granule formation helps to mitigate neurodegeneration.M Rebecca Glineburg, Evrim Yildirim, Nicolas Gomez, Genesis Rodriguez, Jaclyn Pak
Nucleic Acids Research. 2024-09-09 - 1 citationsAAGGG repeat expansions trigger-independent synaptic dysregulation in human CANVAS neurons.Connor J Maltby, Amy Krans, Samantha J Grudzien, Yomira Palacios, Jessica Muiños
Science Advances. 2024-09-06
Press Mentions
- Covid-19: Government Poised to Amend Regulations to Allow Use of Unlicensed VaccineSeptember 28th, 2020
- Brain-Damaged UK Victims of Swine Flu Vaccine to Get £60 Million CompensationAugust 12th, 2020
- Disease-Causing Repeats Help Human Neurons FunctionFebruary 18th, 2020
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Grant Support
- Pathogenic Mechanisms In Fragile X Tremor Ataxia SyndromeNational Institute Of Neurological Disorders And Stroke2010–2012
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