Driving research, providing support and improving outcomes for patients and their families affected by rare conditions

Dr Neil Rajan

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“Studying BHD skin tumours one cell at a time can give novel insights into how these tumours form and grow”

Dr Neil Rajan
Senior Lecturer and Honorary Consultant Dermatologist
Newcastle University, UK

Delineating the cutaneous tumour microenvironment in BHD Syndrome
Research Summary

Patients with Birt-Hogg-Dubé (BHD) syndrome carry rare changes in their DNA in a gene called “folliculin”, and are predisposed to develop skin tumours, punctured lungs and kidney cancer. Our understanding as to why specific skin tumours called “trichodiscoma” and “fibrofolliculoma” develop in BHD patients and what makes them grow is incomplete. I plan to lead a programme of genetic research on skin tumours from BHD patients to address these questions.

Using novel technologies that allow detailed study of single cells in skin tumours, I will study the abundance, role and relative proportions of different cell populations in BHD skin tumours. This approach at single cell resolution will inform our understanding of skin tumour cells, skin immune cells and their interaction in the immediate tumour vicinity, known as the “tumour microenvironment”.

Such information is increasingly relevant to gain novel insights into BHD skin tumour growth, a prerequisite for the development of future therapeutic strategies.

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