Newcastle University leading research into genetic mutations that cause lethal blood disorder in children

The team behind a new study into genetic mutations that cause blood disorders including rare cancers - featuring Newcastle University's Prof Matthew Collin
-Credit: (Image: Newcastle University)

A Newcastle University team are helping to leading research into lethal cell mutations that could cause rare blood disorders and cancers.

The university is working with the Wellcome Sanger Institute and the SKAN Research Trust on a project to examine how stem cells in the blood mutate and then cause conditions including Langerhans Cell Histiocytosis (LCH) which is a rare cancer-like illness predominantly affecting children. LCH is so rare that there remains debate as to whether or not it is a cancer.

Prof Matthew Collin is the university's lead investigator on the project which will use analysis of the human genome to consider how genes mutate and cause illnesses such as LCH and some blood cancers. Prof Collin said this was "tremendous news" for patients.

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The study builds on work Prof Collin has previously led in the field - examining how to diagnose and monitor LCH. The university team will now work with leading researchers across the globe to cover how LCH occurs in different populations - with the Indian-based SKAN playing a key role in this.

The study comes as researchers grapple to understand how genetics lead to lesions around the body at different times.

Ashok Soota, the Chairman & 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."