Abstract medical background by jijomathaidesigners, courtesy of Shutterstock
A medical student from the University of Plymouth has published a peer-reviewed article about a rare genetic condition – with findings further fuelling his ambition to support people affected.
Ahsan Ali, who is in his fifth and final year of study, has published a review exploring a potential technology to tackle DMD – a condition characterised by muscle wastage and affecting roughly one in every 5,000 boys worldwide. Treatments are currently palliative, and there is no known cure.
Ahsan Ali
DMD is caused by a genetic mutation in the dystrophin gene, leading to a deficiency of the protein essential for muscle function, and the topic was introduced during a module about genetics. With family members affected by other genetic conditions such as Williams Syndrome, Ahsan was inspired to look further into possible technological advancements that might lead to treatment options in future.
He explored the CRISPR/Cas9 gene-editing technology, which has been used to successfully treat patients with sickle cell disease and other genetic conditions, and showed some promise in correcting the genetic mutations responsible for DMD.
So in his spare time, Ahsan conducted a literature review exploring the advent of the technology and potential future applications. He sent the article to peer-reviewed journal, Global Medical Genetics, and it was published earlier this academic year.

The results are exciting, as the review shows success in some areas of the technology, but ultimately highlight that more work needs to be done. However, it only spurs me on to do more for people affected by DMD and other genetic conditions.

Genetics is a fascinating area of medicine but not one that often gets the limelight. 
There are also very strict regulations on gene editing, so it’s an area that needs to be looked at carefully. It sounds simple but there’s a huge amount morally and scientifically involved, so a really interesting topic to explore. 

Throughout my course I’ve been strongly encouraged to pursue the areas of medicine I’m passionate about, as well as supported to develop my research skills. I’m really grateful for my tutors’ support and the Library’s opening hours so I could do the research! I’m also very grateful to the journal, who waived the publishing fee.

I actually did a complete 180 in life when I was working in a London skyscraper and questioning – how can I do something meaningful? Studying medicine at Plymouth has enabled me to pursue a career changing lives, and I’ve been supported every step of the way to explore my passions as part of it.
Ahsan Ali

CRISPR gene editing has the potential to be one of many exciting approaches to help treat Duchenne. While it is very promising, I believe more research needs to be done to ensure the best efficacy and safety for all patients. It’s a good thing Ahsan looked into it – appreciate the time and effort put in.

Hawken Miller, a DMD patient and online DMD awareness advocate on Instagram 

It’s certainly unusual for a medical undergraduate to publish articles in a peer-reviewed journal and Ahsan has put in a huge amount of work to make this possible.

It’s fantastic to see the personal passion and analytical skills combine for this outcome.
Whatever someone’s background or aspirations in medicine, we can provide the opportunities to support it here at Plymouth.

Laura Bowater MBEProfessor Laura Bowater MBE
Head of Peninsula Medical School

The full study The Role of CRISPR/Cas9 in Revolutionizing Duchenne's Muscular Dystrophy Treatment: Opportunities and Obstacles is available to view in the journal Global Medical Genetics (DOI: 10.1055/s-0044-1791803).