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Home » Haematology » Addressing the cause of sickle cell is the first step to finding the solution

Nicola Massey

Executive Country Manager, UK and Ireland, Vertex

New scientific developments are making what once seemed impossible possible for people living with this serious disease.

The last 30 years have brought dramatic advances in human health through the discovery of new medicines; people now live with HIV, cancers are being cured and the risk of developing heart disease can be significantly reduced.

But as companies look to the future to drive new developments in human health, they tend to focus working on diseases that impact a specific organ — like the lung — or they focus on one type of therapeutic approach.

Walking a different path

Our goal is to create transformative medicines for people with serious diseases. To achieve this, we target serious diseases where we have strong insight into the biological mechanism and where there is significant need for new treatments. It is only once we have fully understood the biological problem we are trying to solve that we invent, partner or acquire a potential therapeutic solution. We believe this approach maximises our chances of success of translating science and research into medicines for patients who need them.

Sickle cell – the ‘first molecular disease’

Sickle cell is a serious, life-threatening inherited disease affecting the red blood cells. People who have sickle cell are frequently anaemic and can suffer from regular sickle crises. Crises occur when the red blood cells block blood vessels resulting in severe and debilitating pain which can happen anywhere in the body at any time. This has a significant impact on their life; people who have more sickle crises per year are more likely to report high impact on their daily activities, school attendance, job retention, family and social life, and stress levels.

Yet, despite sickle cell being described as the ‘first molecular disease’ in 1949, the current treatment landscape has remained focused on addressing symptoms of the disease rather than the underlying cause.

Deep understanding of the mechanisms of disease allows us to focus our resources into potential solutions to biological problems.

Our approach to finding a treatment

At Vertex, our insight into how to treat the disease comes from natural variations in the DNA of a small number of people with sickle cell. Normally, the symptoms of sickle cell would begin approximately three months after birth as the haemoglobin in red blood cells changes from foetal haemoglobin to adult haemoglobin. However, in some people, this switch never happens. Studies have shown us that people with sickle cell who continue to produce foetal haemoglobin have few or no symptoms of their disease.

Scientists at Vertex therefore hypothesised that targeting the processes in our body that enable foetal haemoglobin to be produced again could provide a possible therapeutic solution for people with sickle cell. Clinical trials are ongoing to validate this hypothesis to potentially create treatments to improve the lives of people living with this disease. 

Translating science into commitment

Deep understanding of the mechanisms of disease allows us to focus our resources into potential solutions to biological problems. And we take this seriously, investing approximately 70% of our operating expenses into research and development year on year. But on top of science and drug discovery, we also have a commitment to partnership with all stakeholders as we look to bring treatments to people living with sickle cell.

September 2022

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