The Molecular Investigation of Unexplained Anaemias and Related Congenital Anaemias

Research summary

Our study aims to look for new genes and new mutations causing unexplained anaemias in patients who suffer from an inherited anaemia. We have developed in our diagnostic lab a novel high throughput sequencing test simultaneously looking for mutations in 20+ genes that cause inherited anaemias. Patients whose samples are referred for this test and in whom we identify novel or no mutations are invited to participate in the study. The study uses exome/genome sequencing to find new mutations and genes, and tries to understand what effect these have on developing red blood cells. Because a lot of genetic variation is not disease causing, an important part of the study will be inviting family members to be tested for the mutations so that we can check it is passed down in the family in a way that could explain the inheritance pattern of the condition. The benefits of the study include improving our understanding of what governs blood production, in the hopes of finding new treatments for common acquired causes of anaemia, or to help us develop blood production in the lab, an important goal of transfusion medicine. The research is funded by the Medical Research Council.

Principal Investigator

Dr Wale Atoyebi

Contact us

Email: Latephasehaematology@ouh.nhs.uk

IRAS number

138730