SKAN, the Wellcome Sanger Institute and University of Newcastle to study early stem cell mutations in rare blood disorder

SKAN Research Trust and Wellcome Sanger Institute Collaboration

SKAN Research Trust (SKAN), promoted by Indian entrepreneur Ashok Soota, today announced a joint research project with the UK-based Wellcome Sanger Institute (Sanger Institute) and University of Newcastle (Newcastle), to study early somatic mutations in blood stem cells that researchers believe drive several cancerous and non-cancerous conditions. The research collaboration will extend cutting-edge stem cell genomic analysis to cancer subtypes such as Langerhans Cell Histiocytosis (LCH), an immune cell disorder that largely afflicts children aged between 0 to 15 years.

The research project titled Deciphering the Origins of Langerhan Cell Histiocytosis and Related Histiocytic Neoplasms will be led by Dr Jyoti Nangalia, Group Leader at the Wellcome Sanger Institute and Wellcome-MRC Stem Cell Institute. The study will examine the timestamp of the genetic mutations that drives LCH and the presentation of its clinical symptoms.

Researchers 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 still grappling with understanding how some genetic mutations that drive LCH result in lesions appearing in different parts of the body at different times. Researchers hope that the study will pave the way for better understanding the disease’s progression and possible early interventionist strategies for its management.

Mr. Ashok Soota, the Chairman & Managing Trustee of SKAN, said “We are delighted to be partnering with the Sanger Institute and University of Newcastle in a project which 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 understand 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 are able to drive the disorders, we do not understand how such events result in a multitude of tissues being affected at different times in life, nor why clinical disease often follows distinct patterns across different patients. We hope that our genomics research at the Sanger Institute will shed light on the origin and trajectory of these diseases to help patients in the future.”

Newcastle University and its Principal Investigator, Prof. Matthew Collin, who have played a major role in establishing diagnostic and blood monitoring pipelines for LCH, (now adopted by the UK NHS Genomic Medicine Services), will also be part of this collaboration. 

Prof Matthew Collin said, “For patients with these disorders, it is tremendous that state-of-the-art approaches will be brought to bear on increasing our knowledge of how they arise. We are also very excited to extend the reach of research and training to new partners in other healthcare systems.”

Mr Davis Karedan, Vice Chairman & Trustee of SKAN said, “This collaboration is another step in SKAN’s efforts to establish a robust inhouse stem cell research capability and comes on the back of its international collaboration with the Cambridge Stem Cell Institute”.


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