A kidney specialist working at the interface of clinical care and discovery science, Melanie uses cutting-edge genomic and multiomic approaches to uncover the molecular drivers of inherited kidney diseases and urinary tract malformations. Her work aims to improve diagnosis, deepen understanding of disease mechanisms, and open new possibilities for personalised treatments. 

Kidney disease is a growing global health challenge, affecting more than 850 million people worldwide and costing the UK over £7 billion annually. Rare kidney diseases are particularly significant as they are more likely to lead to kidney failure than other conditions such as diabetes, accounting for a disproportionate number of people requiring dialysis or transplantation. Among these, Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT) are the leading cause of kidney failure in children, arising from individually rare developmental abnormalities before birth collectively affecting around 1 in 300 babies. Despite the significant impact of these conditions, the underlying causes and why some children are affected more severely than others are still largely unknown. 

Melanie hopes to improve the diagnosis and understanding of CAKUT and create new possibilities for personalised treatments through the integration of genomics, multiomics and kidney organoid models and generation of a functional genomics pipeline. Her five-year MRC Clinician Scientist Fellowship will fund this ambitious project. This prestigious fellowship supports her transition to an independent research career and provides resources, including a dedicated postdoctoral researcher to advance understanding of rare kidney diseases in children and develop better diagnosis and treatments. 

As a clinician scientist in the Chain Florey Programme, Melanie splits her time between research (80%) and patient care (20%), ensuring her work remains grounded in real clinical need. The potential benefits of her research are to improve the understanding of how kidneys and bladders develop normally in the womb, and why things go wrong in CAKUT. She hopes to lay the foundations for precision medicine approaches, such as gene or stem cell therapies, to repair or replace damaged tissues in the future.  

The Chain Florey Programme trains and supports early-career clinician scientists working at the interface of mechanistic discovery research and experimental medicine, providing structured training, mentorship, and protected research time to develop independent research careers. Through the Chain Florey Programme, Melanie received support during her application for the MRC Fellowship, building on the skills and research experience gained through the programme. 

At the LMS, Melanie will benefit from world-leading expertise in genome regulation and chromatin biology, alongside access to advanced genomic and bioinformatic technologies. She will be supported by Professor Juanma Vaquerizas, LMS Group Head of the Developmental Epigenomics group and leader in computational epigenomics, whose expertise in multiomics, spatial transcriptomics and genome architecture will be central to the project. 

This article was written by Aurélie Tromp, Chain-Florey Programme Manager.