Genetic contribution to multi-system, multi-organ atopic disease

Atopic dermatitis (AD) is a chronic inflammatory skin condition that significantly impacts quality of life. It is often complicated by other atopic disorders such as asthma, allergic rhinitis, and food allergies. Despite its prevalence, the etiology of severe atopic disease remains poorly understood.

The current study aims to elucidate the pathogenic role of rare monogenic variants, as these have the potential to identify disease pathways that are also relevant to common forms of AD.

A preliminary analysis of a cohort with severe disease Identified rare deleterious variants in a gene previously implicated in B-cell homeostasis.

The proposed research will build on these exciting data to functionally characterise the molecular consequences of disease alleles and elucidate their role in AD pathogenesis. It will further utilize publicly available omics datasets to generalize findings to the broader AD population.

This research will enable me to complement my training in bioinformatics by mastering the experimental skills required to validate in-silico findings.

Thus, I will acquire a multidisciplinary perspective that will allow me to establish myself as an independent investigator in the field of immunogenetics. Keywords Atopic Dermatitis, Multi-System Atopic Disease, Monogenic Variants, Immunogenetics.