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Approved Research

Functional and pharmacological characterisation of genetic variants of ion channels associated with disease to inform the development of novel therapeutics

Principal Investigator: Dr Emma Veale
Approved Research ID: 79200
Approval date: October 27th 2022

Lay summary

The main aim of this project is to study the information collected on participants that have been identified as suffering from particular diseases. These will include disorders of the circulation that affect the heart and lungs such as atrial fibrillation, nervous system disorders that cause epilepsy and migraine, mental health disorders such as depression and those suffering from chronic pain. We will use this information to see if we can identify any correlation with mutations in ion channels that might potentially be causing or contributing to a particular illness. Identifying the involvement of particular ion channels could help us to design and inform healthcare interventions for particular diseases that would be beneficial to the public.

Our lifestyle choices often combined with alterations in our genes and the environment that we live in can all contribute to the progression of particular diseases. Understanding how all of these factors contribute to the susceptibility, development, progression, severity, treatment responsiveness and recovery from a particular disease is critical for disease prevention/progression and to inform the development of more effective and safer treatment strategies.

We envisage that this project could take up to three years.

The public health impact of this study will ultimately be a better understanding of particular disease states, how these might be linked to the lifestyle choices of people and/or changes in the genes of a person. The identification of particular health risk factors, linked to diseases, may influence the development of more personalised medical approaches and treatments. The overarching goal is that this study will improve the understanding of why particular diseases occur in particular people and how treatments might be modified or adapted accordingly, for the overall benefit of the patient.