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Approved Research

Genetic dissection of red blood cell biology

Principal Investigator: Dr Stephan Menzel
Approved Research ID: 81370
Approval date: October 19th 2022

Lay summary

Sickle cell disease and thalassaemia are severe genetic defects affecting red blood cells that lead to disability, excruciating pain episodes and often require life-long regular blood transfusion. Treatment options are presently limited. We and others have discovered genetic factors that reduce the severity of these conditions in some patients. New treatments for sickle cell disease and thalassaemia have been developed from these discoveries and are presently in clinical trials.

To understand better how the disease modifying factors work and to discover new treatment targets, we will study the UKBiobank dataset, i.e. the genetic data and blood cell parameters measured in the participants, to uncover how our genetic blueprint controls the generation and function of red blood cells. Any new findings will be further investigated in large cohorts of sickle cell patients in collaboration with clinical researchers in the UK, Tanzania and Nigeria.

We hope that our work will lead to novel or improved therapeutic options for patients with haemoglobin disorders.