Dr Katarzyna Szymanska

Profile

I completed my Masters project in the Jagiellonian University in Krakow in 2007 and graduated with a degree in Biology with specialisation in Genetics and Developmental Biology. My Masters project included designing a forensic test to identify if DNA samples collected from a crime scene came from a red-haired person. I joined Professor Colin A. Johnson’s group in 2007 starting as a Research Assistant. During my post in Professor Johnos's group I completed part-time PhD and graduated in 2015.

Research interests

I'm interested in rare congenital conditions called the ciliopathies where small hair-like structures called the primary cilium are affected. Ciliopathies are heterogeneous conditions and to date mutations in thirteen genes have been identified to cause the most severe ciliopathy, Meckel-Gruber syndrome (MKS). MKS is the most common syndromic cause of neural tube defects. We use multiple approaches to identify the remaining genes, including autozygosity mapping in consanguineous families, whole exome sequencing, and the identification of functional candidates from a whole-genome reverse genetics siRNA screen. I'm also interested in the function of proteins implicated in ciliopathies, and their localisation, particularly to sub-compartments of the cilium such as the transition zone. I use immunofluorescent confocal microscopy of model ciliated cell lines, gene over-expression, gene knockdown, qRT-PCR, as well as functional assays to determine function in known signalling pathways mediated by cilia such as the Wnt and Shh pathways. I'm interested in protein-protein interaction and protein complexes and to investigate it i use mass spectrometry and BioID assay. Additionally, I'm also looking into novel process involved in cilia structure and function such as ubiquitination and post-translational modifications of ciliary proteins.

Qualifications

• MSc in Biology, Jagiellonian University, Krakow, Poland
• PhD, University of Leeds, Leeds, UK

Student education

I undertake various teaching tasks including students supervision in the laboratory, as well as term taught tutorials.

Research groups and institutes

• Leeds Institute of Medical Research at St James's