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Dr Sarah Carpanini

(She/Her)

Postdoctoral Researcher

Exploring the interplay between HLA haplotype and immune dysfunction in Alzheimer's disease

Techniques

Genomics, Stem cells / iPSCs

Research interest

Genome-wide association studies (GWAS) have shown that variants in immune system genes including complement and human leukocyte antigen (HLA) genes that encode major histocompatibility (MHC) proteins drive neurodegeneration in AD. My research is two-fold. One to identify a link between complement AD risk genes and complement indued synapse loss using induced pluripotent stem cells (iPSC) from individuals with either a low or high complement polygenic risk score to determine whether complement genetic makeup alters neuronal function and complement dysregulation. Secondly, to understand the HLA association with AD. My team use HLA typing of higher resolution whole-exome sequencing (WES) data, T-cell receptor sequencing and HLA immunopeptidomics to explore the HLA association with AD from an immune perspective.

Key publications

Stem cell reports
Published

Modeling common Alzheimer's disease with high and low polygenic risk in human iPSC: A large-scale research resource

Authors
Emily Maguire, Jincy Winston, Sarah H Ellwood, Rachel O'Donoghue, Bethany Shaw, Atahualpa Castillo Morales, Samuel Keat, Alexandra Evans, Rachel Marshall, Lauren Luckcuck, Laura Brown, Elisa Salis, Ganna Leonenko, Nicola Denning, EADB consortium, Nicholas D Allen, Valentina Escott-Price, Caleb Webber, Philip R Taylor, Rebecca Sims, Sally A Cowley, Julie Williams, Sarah M Carpanini, Hazel Hall-Roberts
Modeling common Alzheimer's disease with high and low polygenic risk in human iPSC: A large-scale research resource
Frontiers in neuroscience
Published

TREM2 supports neuronal protection and microglial reactivity without an effect on misfolded protein deposition in chronic neurodegenerative prion disease

Authors
Sarah M Carpanini, Barry M Bradford, Alessio Alfieri, Pedro Piccardo, Jimena Monzón-Sandoval, Deborah Brown, Aileen Boyle, Aleksandra Pokrovskaya, Neil A Mabbott, Jean Manson, Barry W McColl
TREM2 supports neuronal protection and microglial reactivity without an effect on misfolded protein deposition in chronic neurodegenerative prion disease