On the 20th November, my friend Amelia and I, who both live with SMA, visited the Wolfson Centre for Personalised Medicine at The University of Liverpool. The centre is conducting cutting-edge research focused on treatment safety. 

The core focus of their work is to make SMA treatments safer and more effective by using a highly personalised approach. 

We were hosted by Pradeep (a Research Associate), Sir Munir Pirmohamed, and Anita Hanson, who shared their expertise. 

The most fascinating aspect we learned about was the research into the genetic basis of treatment side effects: 

• The Challenge: Even though patients take the same SMA treatment, some experience adverse reactions while others do not.  

• The Research Goal: Researchers are working to pinpoint the specific genetic variations that cause these differences in reaction. 

• The Potential: As explained by Sir Munir, if a gene linked to a specific adverse reaction can be identified, future treatments could be tailored to avoid that reaction altogether, dramatically improving both safety and efficacy for patients.
  

Inside the Laboratories

We were given a tour of the laboratories where this vital work takes place. We saw the specialised equipment and different research stations, giving

us a helpful insight into the stages of their work. We were even able to participate in a small experiment to learn how to measure and handle small samples. 

 Urgent Call for Participants: The HYST Study 

Sir Munir is currently leading a crucial study called HYST. 

What is the HYST Study? 

• Goal: To understand why some patients are more susceptible to side effects following Zolgensma (gene therapy).  

• Purpose: To provide resources for clinicians and parents to accurately assess the potential benefit-risk for each individual child. 

How You Can Help: The centre is facing a key challenge in recruiting patients, as there are only around 150 eligible patients in England. 

• If your child has received Zolgensma (Gene Therapy), you can support this vital work to make gene therapy safer for future SMA babies. 

Action: We are asking for volunteers to provide a mouth swab (buccal swab) for genetic analysis. 

To register your interest, please complete the form here! 

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