Emily Edwards

Proud to be talking at this webinar on the 8th of October alongside Ig therapy manufacturers, patients receiving therapy, clinicians and SCIg nurses.
#patientawareness

New content online:

Genetic regulation of cell type–specific chromatin accessibility shapes immune function and disease risk @medrxivpreprint.bsky.social @anglixue.bsky.social @drjosephpowell.bsky.social
www.medrxiv.org/content/10.1...

Shared Immune and Epigenetic Pathways in Systemic Lupus Erythematosus and Melanoma Immunotherapy: A Cross-Disease Analysis with Prognostic and Therapeutic Implications https://www.biorxiv.org/content/10.1101/2025.08.19.671053v1

From lab bench to Parliament House, a few weeks ago, I was proud to bring the voices of patient advocacy and rare disease research to advocate for equitable and fair access to vaccination and blood products.
With this dual lens, I added evidence-based insights to strengthen the case for change.

De novo-designed pMHC binders facilitate T cell–mediated cytotoxicity toward cancer cells The recognition of intracellular antigens by CD8+ T cells through T cell receptors (TCRs) is central for adaptive immunity against infections and cancer. However, the identification of TCRs from patie...

Amazing new paper from @krishaurum.bsky.social and colleagues, designing novel pMHC-binders (synthetic TCRs) in silico: www.science.org/doi/10.1126/...

Scalable screening of ternary-code DNA methylation dynamics associated with human traits
www.cell.com/cell-genomic...

Differences in immune cell profiles around the time of islet autoimmunity seroconversion in children with and without type 1 diabetes https://www.biorxiv.org/content/10.1101/2025.06.23.661117v1

An excellent preprint offering valuable insights into the impact of CMV infection on the immune system. Three insights are important as CMV is a herpesvirus, to which over 70% of the population has been exposed.

Topical JAK inhibitor for refractory skin #inflammation in STAT1 GOF. New report from Valentina Guarnieri, Tiphaine Arlabosse, Claire Booth, and Gabriela Petrof @greatormondst.bsky.social: rupress.org/jhi/article/...

#Therapeutics #InbornErrorsOfImmunity

So fabulous to see this paper out! Prof Lucy Wedderburn is a close collaborator of many researchers in our dept and this paper makes an important contribution to continued efforts to understand better ways to predict treatment response in patients with autoimmune conditions 🧬 read more below 👇

Proud to be a recipient of a seed grant from the Victorian Critical Vaccinees Collection, to investigate memory B cells in elderly individuals receiving the COVID-19 vaccine, and finding parallels with responses in immunocompromised

lnkd.in/g2FxQX5q

@MonashSTM @ErasmusMC

Definitely one of the most important imo

Our pre-clinical cell model recapitulated the functional effects of our novel
variant as well as the previously described p.S550Y

- Immune impact was characterised functionally by increased SYK autophosphorylation coupled with enhanced downstream activation of both the MAPK and PI3K pathway in patient B cells (both at resting and
upon B-cell receptor stimulation)

-The patient presented with hypogammaglobulinemia and atypical autoinflammatory disease

- The patient has reduced unswitched and class-switched memory B-cell
numbers circulating in peripheral blood

I would like to share our pre-print in medRxiv. Here, we describe a novel monoallelic missense variant (c.1769G>A; p.R590Q) in the spleen tyrosine kinase (SYK) gene causing SYK gain-of-function (GOF).

A collaboration between Monash Uni, Alfred Health, Erasmus MC.

www.medrxiv.org/content/10.1...

Shared moment from Einstein A Go-Go – 27 April 2025 — Triple R 102.7FM, Melbourne Independent Radio An episode of Einstein A Go-Go on 27 April 2025

This years visit to raise awarenss of Primary Immunodeficiencies as part of World Primary Immunodeficiencies Week. Thanks @DrShaneRRR for having us every year. Einstein A Go-Go – www.rrr.org.au/shared/broad... via @3RRRFM
@MonashImmunol @MonashSTM

Thank you 😊

I'm proud to announce my promotion to Group Leader of the Primary Immunodeficiencies Group part of the Allergy and Clinical Immunology Lab in Dept Immunology, School of Translational Medicine @monashuniversity.bsky.social. We're working towards precision diagnosis & targeted treatment for patients

Long-lasting antibody B-cell responses to SARS-CoV-2 three years after the onset of the pandemic
www.cell.com/cell-reports...
@cp-cellreports.bsky.social @gmoncure.bsky.social

An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment
www.cell.com/cell-genomic...

High-throughput screening of human genetic variants by pooled prime editing
www.cell.com/cell-genomic...

Unpicking non-coding genetic variation: Structure-guided modelling holds promise for evaluating how single nucleotide variants affect transcription factor binding. www.biorxiv.org/content/10.1.... @uoe-igc.bsky.social

Useful resources

Pleased to present our CITE-seq paper analysing 45 BAL samples from (un)treated children with CF and controls. BAL is a tricky tissue, 44 celltypes dominated by macrophages. Trailblazing analysis led by @jovmaksimovic.bsky.social @melanieneeland.bsky.social @shivanthans.bsky.social and collaborators

The February 2024 cover of Science Immunology depicts CRISPR–Cas9–mediated repair of a dysfunctional cytotoxic T cell (red) from an individual with familial hemophagocytic lymphohistiocytosis (FHL), which allows it to secrete normal cytotoxic granules (pink) and effectively kill virally infected B cells (blue). (Credit: A. Fisher/Science Immunology)

To commemorate #RareDiseaseDay, here are some recent #Science #Immunology research papers that elucidate the immune mechanisms underlying certain rare human diseases and/or report new strategies to treat them! @science.org

It was my pleasure to co-host this webinar with the Immune Deficiency Foundations Carolyn Dewes. #RareDiseaseDay2025 #inbornerrorsofimmunity @monashuniversity.bsky.social @monashstm-grsc.bsky.social

JAK inhibitors remove innate immune barriers to allow viral propagation https://www.biorxiv.org/content/10.1101/2025.02.17.638720v1