Gerard D Schellenberg

About

Gerard D Schellenberg is a Professor of Pathology and Laboratory Medicine at the University of Pennsylvania's Perelman School of Medicine. He holds a Ph.D. in Biochemistry with a minor in Cell Biology from the University of California at Riverside, obtained in 1978, and a B.S. in Biochemistry with a minor in Cell Biology from the same institution, earned in 1973. His department affiliation is with the Department of Pathology and Laboratory Medicine, and he is part of the Genomics and Computational Biology graduate group. His research focuses on genetic and neuropathological factors related to Alzheimer's disease and other dementias, contributing to the understanding of genetic variants, risk factors, and molecular mechanisms underlying neurodegenerative conditions.

Research topics

• Genetics
• Biology
• Neuroscience
• Medicine
• Pathology
• Gerontology
• Psychiatry
• Computational biology
• Internal medicine
• Psychology

Selected publications

• Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

  Nature Communications · 2020 · 484 citations

  Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer's dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer's dementia cases and controls. APOE2/2 was associated with a low Alz…

  PublisherOA PDFDOI

• Transmission of tauopathy strains is independent of their isoform composition

  Nature Communications · 2020-01-07 · 184 citations

  articleOpen access

  The deposition of pathological tau is a common feature in several neurodegenerative tauopathies. Although equal ratios of tau isoforms with 3 (3R) and 4 (4R) microtubule-binding repeats are expressed in the adult human brain, the pathological tau from different tauopathies have distinct isoform compositions and cell type specificities. The underlying mechanisms of tauopathies are unknown, partially due to the lack of proper models. Here, we generate a new transgenic mouse line expressing equal r…

  PublisherOA PDFDOI

• Genetic variants and functional pathways associated with resilience to Alzheimer’s disease

  Brain · 2020 · 141 citations

  Approximately 30% of older adults exhibit the neuropathological features of Alzheimer's disease without signs of cognitive impairment. Yet, little is known about the genetic factors that allow these potentially resilient individuals to remain cognitively unimpaired in the face of substantial neuropathology. We performed a large, genome-wide association study (GWAS) of two previously validated metrics of cognitive resilience quantified using a latent variable modelling approach and representing b…

  DOI

• Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

  Nature Genetics · 2022 · 55 citations

  The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the genetic influences on autism. Using a new statistical approach, we identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of…

  PublisherOA PDFDOI

• Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

  Molecular Neurodegeneration · 2024-08-16 · 26 citations

  articleOpen access

  Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions/deletions (indels) and structural variants (SVs). Method In this study, we performed whole genome sequenci…

  PublisherOA PDFDOI

Recent grants

• NIH Grant P01AG014382

  NIH · $13.4M · 2009

• NIH Grant UF1AG047133

  NIH · $12.6M · 2019

• Admin Core: Identifying genes and Pathways that impact Tau Toxicity in FTD

  NIH · $12.3M · 2016–2022

Frequent coauthors

• Margaret A. Pericak‐Vance

  Dr. John T. Macdonald Foundation

  347 shared

• Lindsay A. Farrer

  Framingham Heart Study

  317 shared

• Jonathan L. Haines

  Case Western Reserve University

  308 shared

• Richard Mayeux

  Columbia University

  288 shared

• Eden R. Martin

  University of Miami

  257 shared

• Gary W. Beecham

  University of Miami

  234 shared

• Thomas D. Bird

  University of Puget Sound

  199 shared

• Brian W. Kunkle

  University of Miami

  194 shared

Similar researchers at University of Pennsylvania

• John Q. Trojanowskih-296
• Craig B. Thompsonh-277
• Daniel J Raderh-236