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Exploring the genetic architecture of haematological disease and blood cell traits

Safe People

Organisation name

University of Bristol

Organisation sector

Academic Institute

Applicant name(s)

Kate Burley

Funders/ Sponsors

Safe Projects

Project ID

OFHS250085

Lay summary

Our study aims to understand how our genes influence blood cell numbers and blood diseases, including cancers of the blood and bone marrow, and blood clotting disorders. By analysing genetic data, questionnaire responses, clinic measurements, and linked health records from volunteers in Our Future Health (OFH), we aim to improve our understanding of the causes of blood diseases, identify individuals at highest risk, personalise patient care, and uncover potential targets for more effective treatments. Questions we plan to investigate include: 1. How do genetic changes and environmental influences contribute to differences in blood cell characteristics and the development and progression of blood disorders? 2. Are there a shared genetic causes for mild blood abnormalities and more serious diseases including cancerous bone marrow conditions? 3. Can we predict an individual's risk of blood disease by combining genetic and other clinical information? 4. How do common and rare changes in genes involved in blood cell development affect health? Blood and bone marrow problems, like anaemia, blood cancers, and clotting issues, are a major health concern worldwide.These conditions are often caused by a combination of genetic changes passed down from parents and things around us that affect our health, but we don’t yet fully understand how these lead to disease. Our research focuses on understanding how genes affect blood and blood-related diseases. While recent studies have found links between certain genes and things like number of blood cells or blood cancers, many of these findings are still uncertain. They haven’t been confirmed in follow-up studies, and we don’t know if they apply to people from all backgrounds, especially those who aren’t of European descent. There are likely many genetic risks that we haven’t discovered yet, and we also need to understand how genes interact with things like diet, lifestyle, or infections. Serious blood diseases can sometimes start with small changes in blood cells. This suggests there may be a common cause or pathway from mild to severe disease. However, we don’t yet understand why some people progress to more serious illness while others don’t. To answer these questions, we need more research into the genetic risks behind these conditions.

Public benefit statement

By studying the genetics of blood disorders in OFH we aim to understand what causes different blood conditions and identify better ways to detect, prevent and treat them. Our research will explore how genetic information can predict an individual’s risk of developing conditions such as blood cancer or blood clots, leading to more regular monitoring and earlier treatments for those at high risk. By examining how lifestyle factors interact with genetic changes in the development of these disorders, we aim to offer more tailored advice to patients. We also seek to address healthcare inequalities, as many existing genetic risk scores do not accurately predict risks for people who are not of European descent. By improving these approaches, we can work towards fair and effective care for all populations. Additionally, we will investigate why some individuals with mild blood abnormalities progress to more serious conditions. This will help doctors determine which patients need closer monitoring and which can be safely reassured. Ultimately, our study aims to create more personalised methods for preventing and treating blood disorders. It may also help identify new therapeutic targets or improve the use of existing treatments, ultimately reducing the global impact of these diseases.

Request category type

Public Health Research

Other approval committees

Project start date

13/11/2025

Latest approval date

17/07/2025

Safe Data

Dataset(s) name

Safe Setting

Access type

TRE

Safe Outputs

Link to research outputs