Research Interests

ciliopathies, Joubert Syndrome, Kidney, Nephronopthisis, Human urine derived renal epithelial cells

Dr Juliana E. Arcila-Galvis is an Early Career Researcher at Newcastle University in the laboratory of Professor John Sayer and a member of the Rare Disease Research UK CILIAREN node.

She analyses large-scale genomic and transcriptomic datasets from local and national rare disease cohorts, as well as cellular and animal models, to investigate the genetic and molecular mechanisms underlying kidney ciliopathies and other inherited renal disorders. Collaborating closely with clinicians and experimental scientists, her work contributes to gene discovery, interpretation of non-coding variants, and the development of multi-omic approaches to improve diagnosis, uncover disease mechanisms, and identify biologically informed therapeutic opportunities.

Her current research focuses on establishing functional genomics approaches for studying kidney ciliopathies, with a particular emphasis on understanding how non-coding regulatory variation influences kidney development, ciliary function, and disease progression.