Corey T McMillan

About

Corey T McMillan, PhD, is an Associate Professor of Neurology at the University of Pennsylvania's Perelman School of Medicine. He is a member of several research centers including the Institute for Translational Medicine & Therapeutics, the Penn Neurodegeneration Genomics Center, and the MindCORE. Dr. McMillan is also a Fellow at the Penn Institute on Aging within the Division of Clinical and Translational Neurodegenerative Disease Research and serves as Co-Director of the Penn Frontotemporal Degeneration Center (FTDC). His research focuses on using multimodal and bioinformatic approaches to understand the biological basis of neurodegenerative conditions, with an emphasis on developing biomarkers for diagnosis, drug discovery, and clinical trial endpoints. His work concentrates on neurodegenerative proteinopathies involving misfolded tau protein, contributing to Alzheimer’s disease, primary age-related tauopathy, and frontotemporal lobar degeneration, as well as TDP-43 proteinopathies related to FTLD and ALS. Dr. McMillan's research integrates MRI, PET imaging, genomics, and clinical data to address questions in both basic science and clinical translation, aiming to improve diagnosis and treatment of neurodegenerative diseases.

Research topics

• Medicine
• Neuroscience
• Biology
• Pathology
• Psychology
• Computer Science
• Artificial Intelligence
• Genetics
• Radiology
• Internal medicine

Selected publications

• TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

  Nature · 2022 · 495 citations

  . Here we show that TDP-43 depletion induces robust inclusion of a cryptic exon in UNC13A, resulting in nonsense-mediated decay and loss of UNC13A protein. Two common intronic UNC13A polymorphisms strongly associated with amyotrophic lateral sclerosis and frontotemporal dementia risk overlap with TDP-43 binding sites. These polymorphisms potentiate cryptic exon inclusion, both in cultured cells and in brains and spinal cords from patients with these conditions. Our findings, which demonstrate a…

  DOI

• Distribution patterns of tau pathology in progressive supranuclear palsy

  Acta Neuropathologica · 2020 · 459 citations

  Progressive supranuclear palsy (PSP) is a 4R-tauopathy predominated by subcortical pathology in neurons, astrocytes, and oligodendroglia associated with various clinical phenotypes. In the present international study, we addressed the question of whether or not sequential distribution patterns can be recognized for PSP pathology. We evaluated heat maps and distribution patterns of neuronal, astroglial, and oligodendroglial tau pathologies and their combinations in different clinical subtypes of…

  DOI

• Disentangling Heterogeneity in Alzheimer’s Disease and Related Dementias Using Data-Driven Methods

  Biological Psychiatry · 2020-01-31 · 177 citations

  reviewOpen access
  PublisherOA PDFDOI

• Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

  Science · 2020 · 141 citations

  is an autosomal-dominant genetic mutation associated with neurofibrillary degeneration in part owing to reduced tau disaggregation, raising the possibility that VCP may represent a therapeutic target for the treatment of AD.

  DOI

• Tau deposition patterns are associated with functional connectivity in primary tauopathies

  Nature Communications · 2022 · 103 citations

  F-PI-2620 tau-PET in 46 patients with clinically diagnosed 4-repeat tauopathies and post-mortem cell-type-specific regional tau assessments from two independent progressive supranuclear palsy patient samples (n = 97 and n = 96). We find that inter-regional connectivity is associated with higher inter-regional correlation of both tau-PET and post-mortem tau levels in 4-repeat tauopathies. In regional cell-type specific post-mortem tau assessments, this association is stronger for neuronal than fo…

  DOI

Recent grants

• NIH Grant K01AG043503

  NIH · $642k · 2018

• NIH Grant F32HD060406

  NIH · $152k · 2012

• NIH Grant F31DC007282

  NIH · $93k · 2008

Frequent coauthors

• Murray Grossman

  379 shared

• David J. Irwin

  University of Pennsylvania

  304 shared

• John Q. Trojanowski

  University of Pennsylvania

  196 shared

• David A. Wolk

  California University of Pennsylvania

  185 shared

• Edward B. Lee

  155 shared

• Katya Rascovsky

  University of Pennsylvania

  99 shared

• Vivianna M. Van Deerlin

  University of Pennsylvania

  88 shared

• Lauren Elman

  University of Pennsylvania

  77 shared

Labs

• Corey T McMillan LabPI

Awards & honors

• Penn Institute on Aging Fellow
• Penn Frontotemporal Degeneration Center Co-Director
• Institute for Biomedical Informatics Senior Fellow
• Penn Neurodegeneration Genomics Center Member
• Institute for Translational Medicine & Therapeutics Member

Similar researchers at University of Pennsylvania

• Craig B. Thompsonh-277
• Daniel J Raderh-236