Researchers believe these mutations contribute to various cancerous and non-cancerous conditions. This collaboration will leverage advanced stem cell genomic analysis to explore cancer subtypes, including Langerhans Cell Histiocytosis (LCH), an immune cell disorder predominantly affecting children up to the age of 15.

The research project titled Deciphering the Origins of Langerhan Cell Histiocytosis and Related Histiocytic Neoplasms will examine the timestamp of the genetic mutations that drives LCH and the presentation of its clinical symptoms.

Newcastle University’s lead investigator, Professor of Haematology, Matthew Collin, has played a major role in establishing diagnostic and blood monitoring pipelines for LCH, which will play a key investigative role in this project.

Professor Collin said: “For patients, it is tremendous that state-of-the-art approaches will be brought to bear on increasing our knowledge of how these disorders arise.  All of us involved at Newcastle University are very excited to extend the reach of research and training to new partners in other healthcare systems.”

Newcastle University will work with leading LCH treating research centres worldwide to cover LCH driven by different genetic mutations with SKAN, specifically creating a large cohort of Indian children for the study.

The study comes at a time when researchers are continuously grappling with how some of the genetic mutations that drive LCH result in lesions appearing in different parts of the body at different times.

Ashok Soota, the Chairman and Managing Trustee of SKAN, said: “We are delighted to be partnering with Newcastle University and Sanger in a project that gives us dual benefits: understanding the mutation of stem cells and an insight into LCH, an underfunded cancer. The research is expected to develop valuable clinical tests that will aid doctors in understanding what to expect of each patient.”

Dr Jyoti Nangalia, Group Leader at the Wellcome-MRC Stem Cell Institute and Wellcome Sanger Institute, said: “These disorders are an enigma, and they are likely to have a unique genomic origin. Whilst we are aware that specific mutations can drive the disorders, we do not understand how such events result in a multitude of tissues to be affected at different times in life, nor why clinical disease often follows distinct patterns across different patients. We hope that our genomics research will shed light on the origin and trajectory to these diseases to help patients in the future.”

(Press release adapted with thanks to Sanger and SKAN)