Turning neuroscience discoveries into treatments
Turning neuroscience discoveries into treatments
There is no shortage of breakthroughs in neuroscience. The challenge is turning those discoveries into treatments that can make a difference to those living with neurological diseases.
At the University of Sheffield in the United Kingdom, a university ranked among the world’s top 100, our neuroscience academics work hand-in-hand with hospital clinicians through a ‘bedside-to-bench-and-back’ model that connects patient care with laboratory research and clinical trials.
Central to this approach is the Sheffield Institute for Translational Neuroscience (SITraN), a world-leading research facility based at the University of Sheffield where scientists, clinicians, clinical trial teams and bioengineers operate under a single roof, next to the Sheffield Teaching Hospitals.
This close proximity does not remove the challenges of developing new treatments. But it can make it easier for clinical problems to inform laboratory research, for scientific researchers to work closely with clinicians, and for promising discoveries to move into the next stage of development.
From scientific discovery to an FDA-approved treatment
The development of Tofersen, a treatment for a genetic form of Amyotrophic Lateral Sclerosis (ALS), illustrates how this model can work in practice.
ALS, also known as Motor Neuron Disease, is a devastating, rapidly progressing condition that damages nerve cells controlling movement.
This progressive disease causes the nerves that take signals from the brain to the muscles to stop working. This leads to muscle weakness, stiffness and paralysis that gets worse over time, impacting the patient’s ability to walk, talk, eat and breathe. Few patients survive beyond five years after being diagnosed, with current treatments only marginally increasing life expectancy.
Two per cent of ALS cases are caused by changes in the SOD1 gene, which produces a harmful protein that damages nerve cells. At the University of Sheffield, preclinical lab research showed that targeting the faulty SOD1 gene could slow disease progression, helping establish the scientific basis for one of the most promising targeted approaches in ALS.
Following on from this research, the University became the only UK centre selected to evaluate the pharmaceutical company, Biogen's, new therapy called Tofersen. The treatment targets the genetic instructions for the faulty SOD1 protein, stopping it from being produced.
SITraN led the European arm of the Phase 3 clinical trials, which was the first to show how an early biological marker could predict whether an ALS treatment will actually help patients later on. Patients receiving Tofersen experienced significantly slower decline of movement, breathing function, muscle strength and quality of life. A large group of patients experienced stabilisation, and 30% showed improvements in muscle strength. Five years following the trial, reduced nerve cell damage and clinical benefits were sustained.
In 2023, Tofersen was approved by the US Food and Drug Administration as (QALSODY™) for adults with SOD1-associated ALS. It became the first approved treatment specifically targeting an underlying genetic cause of ALS.
The development of Tofersen shows what can happen when laboratory and clinical research are closely linked. Although the journey from the discovery of SOD1 to an approved treatment involved many stages, Sheffield’s integrated research environment brought scientific and clinical expertise together, creating the connections needed to move the research forward and translate it into patient benefit.
From scientific discovery to an FDA-approved treatment
The development of Tofersen, a treatment for a genetic form of Amyotrophic Lateral Sclerosis (ALS), illustrates how this model can work in practice.
ALS, also known as Motor Neuron Disease, is a devastating, rapidly progressing condition that damages nerve cells controlling movement.
This progressive disease causes the nerves that take signals from the brain to the muscles to stop working. This leads to muscle weakness, stiffness and paralysis that gets worse over time, impacting the patient’s ability to walk, talk, eat and breathe. Few patients survive beyond five years after being diagnosed, with current treatments only marginally increasing life expectancy.
Two per cent of ALS cases are caused by changes in the SOD1 gene, which produces a harmful protein that damages nerve cells. At the University of Sheffield, preclinical lab research showed that targeting the faulty SOD1 gene could slow disease progression, helping establish the scientific basis for one of the most promising targeted approaches in ALS.
Following on from this research, the University became the only UK centre selected to evaluate the pharmaceutical company, Biogen's, new therapy called Tofersen. The treatment targets the genetic instructions for the faulty SOD1 protein, stopping it from being produced.
SITraN led the European arm of the Phase 3 clinical trials, which was the first to show how an early biological marker could predict whether an ALS treatment will actually help patients later on. Patients receiving Tofersen experienced significantly slower decline of movement, breathing function, muscle strength and quality of life. A large group of patients experienced stabilisation, and 30% showed improvements in muscle strength. Five years following the trial, reduced nerve cell damage and clinical benefits were sustained.
In 2023, Tofersen was approved by the US Food and Drug Administration as (QALSODY™) for adults with SOD1-associated ALS. It became the first approved treatment specifically targeting an underlying genetic cause of ALS.
The development of Tofersen shows what can happen when laboratory and clinical research are closely linked. Although the journey from the discovery of SOD1 to an approved treatment involved many stages, Sheffield’s integrated research environment brought scientific and clinical expertise together, creating the connections needed to move the research forward and translate it into patient benefit.
Using AI to rethink drug discovery
Sheffield is now applying the same principle to new areas of drug discovery.
In 2026, the Sheffield-led Decode ALS consortium received a £100,000 Discovery Award from the Longitude Prize on ALS for an AI-driven approach to drug discovery.
Led by Professors Johnathan Cooper-Knock and Richard Mead at SITraN, the international consortium brings together researchers from the University of Sheffield, Yale University, the Weizmann Institute of Science and Columbia University.
While scientific research often operates in silos, Decode ALS is combining AI across genetics, genomics, disease biology and drug discovery into a connected system.
By training AI models on whole-genome sequencing from patients and molecular readouts of the disease, the team can predict how candidate drugs will interact with specific protein structures and even specific genetic mutations. This method aims to help researchers better understand the causes of ALS and identify potential treatments to halt the progression of the disease.
It is another example of researchers working across traditional boundaries to tackle a disease that does not fit neatly within a single discipline.
Using AI to rethink drug discovery
Sheffield is now applying the same principle to new areas of drug discovery.
In 2026, the Sheffield-led Decode ALS consortium received a £100,000 Discovery Award from the Longitude Prize on ALS for an AI-driven approach to drug discovery.
Led by Professors Johnathan Cooper-Knock and Richard Mead at SITraN, the international consortium brings together researchers from the University of Sheffield, Yale University, the Weizmann Institute of Science and Columbia University.
While scientific research often operates in silos, Decode ALS is combining AI across genetics, genomics, disease biology and drug discovery into a connected system.
By training AI models on whole-genome sequencing from patients and molecular readouts of the disease, the team can predict how candidate drugs will interact with specific protein structures and even specific genetic mutations. This method aims to help researchers better understand the causes of ALS and identify potential treatments to halt the progression of the disease.
It is another example of researchers working across traditional boundaries to tackle a disease that does not fit neatly within a single discipline.
When research starts with patients
Translation does not always begin with a laboratory discovery. At SITraN, Professor Heather Mortiboys’ research starts with cells donated by patients.
Her team studies cells from people living with neurodegenerative conditions, including Parkinson's, Alzheimer's and ALS, to investigate the underlying mechanisms of disease and develop models for testing potential treatments.
This approach reflects a key principle of translational research at SITraN - using insights from patients to drive discoveries that can ultimately make a difference in the clinic.
And sometimes the result is not a new drug, but a practical solution to a problem that affects everyday life.
When ALS destroys motor neurons, it can impair a person’s ability to control their head and neck. There is a market full of collars and neck braces, but many are designed for sports injuries and car accidents rather than progressive neurological conditions.
Professor Chris McDermott, Professor of Translational Neurology at the University of Sheffield was approached by a patient who felt his needs weren’t being met by the collars available. In response, Professor McDermott and his team worked with people living with ALS to develop a new solution tailored to their needs.
The result was the Head Up collar. More than 80 per cent of patients surveyed after trying the collar said it enabled them to eat, drink and read comfortably with their head supported. The collar is now used in hospitals across the UK and marketed internationally.
It is a useful reminder that translation can take many forms. Listening to patients can lead to new research questions, but it can also lead directly to products that improve people’s lives.
An integrated model for research impact
The University of Sheffield’s SITraN model doesn’t remove the challenges of developing new treatments.
But by bringing researchers and clinicians together under one roof, it breaks down silos and connects expertise across scientific and clinical disciplines. The impact of SITraN’s research is measured in its ability to take ideas from the laboratory, co-develop them with patients and turn them into advances that make a meaningful difference to people’s lives.
When research starts with patients
Translation does not always begin with a laboratory discovery. At SITraN, Professor Heather Mortiboys’ research starts with cells donated by patients.
Her team studies cells from people living with neurodegenerative conditions, including Parkinson's, Alzheimer's and ALS, to investigate the underlying mechanisms of disease and develop models for testing potential treatments.
This approach reflects a key principle of translational research at SITraN - using insights from patients to drive discoveries that can ultimately make a difference in the clinic.
And sometimes the result is not a new drug, but a practical solution to a problem that affects everyday life.
When ALS destroys motor neurons, it can impair a person’s ability to control their head and neck. There is a market full of collars and neck braces, but many are designed for sports injuries and car accidents rather than progressive neurological conditions.
Professor Chris McDermott, Professor of Translational Neurology at the University of Sheffield was approached by a patient who felt his needs weren’t being met by the collars available. In response, Professor McDermott and his team worked with people living with ALS to develop a new solution tailored to their needs.
The result was the Head Up collar. More than 80 per cent of patients surveyed after trying the collar said it enabled them to eat, drink and read comfortably with their head supported. The collar is now used in hospitals across the UK and marketed internationally.
It is a useful reminder that translation can take many forms. Listening to patients can lead to new research questions, but it can also lead directly to products that improve people’s lives.
An integrated model for research impact
The University of Sheffield’s SITraN model doesn’t remove the challenges of developing new treatments.
But by bringing researchers and clinicians together under one roof, it breaks down silos and connects expertise across scientific and clinical disciplines. The impact of SITraN’s research is measured in its ability to take ideas from the laboratory, co-develop them with patients and turn them into advances that make a meaningful difference to people’s lives.
This content was provided by University of Sheffield. The editorial staff of The Chronicle had no role in its preparation. Find out more about paid content.
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