Rare Disease Day 2023 – research at the Neuroscience Institute

The 28th of February is globally recognised as rare disease day, a day annually devoted to raising awareness of rare diseases and what this means for millions of people living with them worldwide.

Scientist undertaking experiment in lab

The 28th of February is globally recognised as rare disease day, a day annually devoted to raising awareness of rare diseases and what this means for millions of people worldwide living with them, their families and carers.

As part of Rare Disease Day, we are shining the spotlight on pioneering and leading research that has been carried out by Sheffield University's Neuroscience Institute this year.

Our talented teams work tirelessly to advance our knowledge and treatment of rare diseases in the hope of improving outcomes and to better peoples quality of life.

Below, you can read about some of the recent research that has taken place at the institute.

Wilson's Disease

Wilson's disease is a progressive rare genetic disorder. People with Wilson’s disease store excess copper in various body tissues, which builds up and causes damage to the liver, brain, corneas of the eyes and other organs. Humans need the mineral copper, which is usually absorbed in small amounts through food. However, when copper isn’t eliminated from the body properly, it can accumulate. This can be poisonous and can cause copper toxicity at a life-threatening level.

DNA molecule illustration

If diagnosed early and treated adequately, patients can completely recover from Wilson’s disease, and go on to lead a normal or near-normal life. In contrast, if a diagnosis is delayed or if it is left untreated, people can die from the disease.

Treatment aims to reduce high copper levels and to subsequently monitor and maintain lower levels of copper in body tissue. However, making a diagnosis can be challenging given that no single test can confirm or exclude the disease, and diagnostic delays are common. Treatment protocols vary and adverse effects, including paradoxical neurological worsening, can occur. 

Oliver Bandmann, Professor of Neuroscience, and a researcher at Sheffield University, chaired a multidisciplinary working group of Wilson's disease experts formed through the British Association for the Study of the Liver (BASL). The group was made up of neurologists, hepatologists, paediatricians, geneticists, clinical chemists, and patient representatives. This study developed a new practical guide to the diagnosis of Wilson's disease. The guidelines include recommendations on indications for testing, how to interpret results, when additional investigations are required, treatment initiation, and the principles behind long-term management.

The guidance has been endorsed by the British Society of Gastroenterology and approved by the Association of British Neurologists, paving the way for much improved diagnosis and care for patients in the UK. 

Read the full article here.

Spinal muscular atrophy (SMA)

SMA is a devastating motor neuron disease which affects children. It is caused by an abnormal survival motor neuron (SMN) gene, which leads to a reduction of SMN protein levels. Approximately 50 percent of affected children die before the age of two years of age.

Child and teddy bear

Researchers from SITraN first demonstrated restoration of the missing SMN protein using gene therapy replacement as a treatment approach for SMA.

This pioneering preclinical work provided the confidence for pharma companies to invest in human gene therapy trials which have been shown to be effective and led to the FDA approval of Zolgensma®.

A single dose of Zolgensma®, delivering a viral vector called AAV9, encoding the missing SMN protein results in babies with type 1 SMA achieving milestones where they previously would have declined.

Repairing nerves with 3D printing

Researchers at Sheffield University’s School of Clinical Dentistry are using a unique library of human tissue to greatly improve patient outcomes of nerve damage to the face or mouth.

Neuroscience fotm mouth

Nerve damage caused by a visit to the dentist can occasionally cause symptoms ranging from complete numbness to abnormal sensations, with some patients experiencing unimaginable pain.

Neuroscience researchers and oral surgeons at Sheffield University have produced pioneering research to reduce potential adverse outcomes and offer promising treatment options, which have historically been overlooked in research. This is making a real difference to patient quality of life.

Read more here.

Promising MND drug helps slow disease progression in SOD1 patients

Scientists believe a new genetically-targeted therapy to treat motor neurone disease (MND) could be a turning point for patient care, after the results of a Phase 3 clinical trial showed significant physical benefits for patients after 12 months. 

Researchers from the Sheffield Institute for Translational Neuroscience (SITraN) found that patients with a faulty SOD1 gene - responsible for two per cent of MND cases - noticed that the progression of their symptoms slowed down 12 months after taking the investigational drug tofersen.

108 MND patients known to have the faulty SOD1 gene took part in the pioneering Phase 3 clinical trial funded by biotechnology company Biogen Inc. Although a significant clinical improvement was not found at the primary endpoint of the study at 28 weeks, when the trial was extended to 52 weeks, notable changes in patients’ motor function and lung function were reported.

Results of the trial, published in the New England Journal of Medicine, show that biomarkers in patients' spinal fluid showed a reduction in the SOD1 and neurofilament protein levels after taking tofersen for six months, suggesting that the treatment successfully hits the therapeutic target and reduces loss of motor neurones which may allow them to start regenerating connections with muscles in the body. However, it took longer for patients to experience reported physical improvements.

Read more here

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