Delivering rapid and efficient genetic screening for bone marrow failure syndromes

Our objective

The Olivia Hodson Cancer Fund’s objective is to provide, “Support for research and clinical advancements within the departments of Oncology, Haematology and Bone Marrow Transplant at Great Ormond Street Hospital”.

Delivering rapid and efficient genetic screening for bone marrow failure syndromes

A new, more efficient method of DNA sequencing will help ICH scientists quickly identify causes of bone marrow failure syndromes.

Bone marrow failure (aplasia) describes the appearance of bone marrow in children whose blood is deficient in red and white blood cells and platelets. There are a number of different inherited syndromes associated with bone marrow failure, making it difficult for clinicians to provide parents with a clear diagnosis or information about the progression and potential outcome of their child’s illness.

With accurate identification of the genetic basis for a patient’s bone marrow failure, doctors can:

  • develop early management and surveillance plans,
  • target appropriate and timely therapy,
  • counsel families if there is a future risk of leukaemia or other cancers,
  • provide genetic counselling for the family and future siblings and
  • collect essential information to support a successful stem cell transplant.

OHCF funds will enable staff at the Genetics & Genomic Medicine programme at the Institute of Child Health to develop a process that utilises new, more efficient genetic screening methods to target large numbers of genes at a time and return data much faster. It is hoped that within 12 months their test will be ready to put into practice, and will eventually made available to clinicians via the NHS.