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Mission
The mission of the Center for Neurodegenerative Disease Research (CNDR) is to promote and conduct multidisciplinary clinical and basic research to increase the understanding of the causes and mechanisms leading to brain dysfunction and degeneration in neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD), Lewy body dementia (LBD), Frontotemporal degeneration (FTD), Amyotrophic lateral sclerosis (ALS), Primary lateral sclerosis (PLS), Motor neuron disease (MND), and related disorders that occur increasingly with advancing age. Implicit in the mission of the CNDR are two overarching goals: 1.) Find better ways to cure and treat these disorders, 2. Provide training to the next generation of scientists.
“My goal for CNDR is not only to collaborate with researchers at Penn and from institutions across the globe with the mutual goal of finding better ways to diagnose and treat neurodegenerative diseases, but also to inspire and encourage the next generation of scientists on the importance of investigating these disorders that occur more frequently with advancing age.” – Virginia M.-Y. Lee, PhD, Director, CNDR
John Q. Trojanowski, MD, PhD | 1946 - 2022
In loving memory of John Q. Trojanowski, MD, PhD
Latest Research
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Choroidal evaluation of FTLD-Tau and biomarker-determined Alzheimer's disease
Wednesday, July 2, 2025
Frontotemporal lobar degeneration with tauopathy (FTLD-Tau) can present clinically similar to Alzheimer's disease but lacks a biomarker. Alzheimer's disease has been associated with choroidal thinning compared to controls. We compared the choroid of 25 probable FTLD-Tau (pFTLD-Tau) patients (42 eyes), 26 biomarker-determined probable Alzheimer's disease neuropathologic change (pADNC) patients (49 eyes), and 53 normal controls (80 eyes). Cerebrospinal fluid biomarkers determined presence of ADNC....
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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
Tuesday, July 1, 2025
OBJECTIVE: A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss-of-function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation and the details of the associated epilepsy and movement disorders.
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Identifying common disease trajectories of Alzheimer's disease with electronic health records
Tuesday, July 1, 2025
BACKGROUND: Alzheimer's disease (AD) is a leading cause of dementia and an escalating public health concern. Although recent research has identified multiple AD risk factors, most studies examine isolated comorbidities rather than complex, sequential progressions. In this study, we sought to identify multi-step trajectories culminating in AD by analysing longitudinal electronic health records (EHRs).