- A team of students from the Julia Garnham Centre - an innovative remote placements facility training the next generation of leaders in genetics created by the University of Sheffield and Sheffield Children’s NHS Foundation Trust - collaborated with the charity Unique to create accessible, medically verified guides for extremely rare genetic conditions
- The booklets provide easy-to-understand information and hope for families navigating rare diagnoses, saving them from searching through dense, technical research studies for answers about what the diagnosis means for their family
- Bethany Stanford-Turner, whose 14-year-old daughter Delilah has a condition with only around 450 known cases worldwide, says the student-produced guides can be ‘life-changing’ for newly-diagnosed families who have no idea what the future holds for them
- As well as providing a crucial resource for patients and doctors globally, the project offered valuable real-world training for Sheffield students preparing to become the next generation of genomic clinicians and researchers
Families living with rare genetic diseases have been given support, guidance and hope thanks to the ‘life-changing’ work of a team of University of Sheffield students.
There are believed to be around 7,000 rare diseases globally that affect fewer than one in 2,000 people, with many diagnosed during early childhood. These conditions are associated with a variety of complex developmental delays and learning disabilities, sometimes meaning that the life expectancy for those affected can be sadly short.
Given the complex and little-understood nature of many of these conditions, families frequently face an uphill battle to find support and answers. Unique, a UK-based international charity, is one of the few organisations that exists specifically to support and inform families living with rare chromosome and gene disorders, while offering a much-needed community network.
Families around the world rely on this support when navigating some of the most challenging times of their lives, often struggling to find accurate, easy-to-understand information following a profound diagnosis. The charity already produces free, medically verified guides for families and professionals worldwide on many conditions, but its resources are limited and many more information guides are needed..
That’s why the Julia Garnham Centre approached Unique, offering its students and support from clinical and academic staff to bring a vital new initiative to life.
Ten students from the Julia Garnham Centre (JGC) - an innovative remote placements facility training the next generation of leaders in genetics in partnership with the Diagnostic Genetics Service at Sheffield Children’s NHS Foundation Trust - were brought on board the Research England's Higher Education Innovation Fund (HEIF)-funded project thanks to the expertise and experience they gained at the JGC.
The students' finished guides, covering seven extremely rare conditions, are now available to families across the globe.
For Bethany Stanford-Turner, whose 14-year-old daughter Delilah has a condition with only around 450 known cases worldwide, the guides are more than just informative.
The family spent several agonising years searching for a diagnosis for a condition that affects Delilah’s language development, learning and behaviour. After taking part in the 100,000 Genomes Project in 2016, they finally got the diagnosis they had been looking for two years later.
Delilah was diagnosed with an extremely rare condition known as TRIO-Related Neurodevelopmental Disorder (TRIO-NDD). TRIO-NDD is a rare genetic condition caused by changes to the TRIO gene that lead to developmental delays, varying degrees of intellectual disability and distinctive physical features (such as an unusually small or large head size), though its severity and symptoms differ greatly from person to person.
Although the diagnosis finally gave them a label, the incredibly rare nature of the condition meant doctors were unable to answer their many questions. When searching the internet for other families living with TRIO-NDD, Bethany found Unique, who were able to offer them a support network and help connect them with families in similar circumstances.
The Julia Garnham Centre students’ work, which saw them produce a comprehensive booklet explaining TRIO-NDD, was a game-changer for Bethany, Delilah and their family.
It really is going to be life-changing for new families who receive the diagnosis. For so long we battled to find answers but, beyond highly technical, barely comprehensible research studies, there was nothing to be found," said Bethany.
“We’ve had to explain it to so many people, including doctors, and it gets really draining. Now all we have to do is hand them the booklet.
“It gives people hope too. When Delilah was diagnosed there was nothing and we had no idea what the future held.
“Seeing that there are adults with TRIO-NDD who have gone on to lead fulfilling lives is such a weight off. Now that people can access that information early in their journeys, it can save so much stress and heartache.”
Dr Claire Andersen, Scientific Communications Manager at Unique, said: “We continually strive to find innovative ways to increase our guide output, while ensuring the highest possible quality is maintained.
“We were thrilled to embark on this collaboration with the Julia Garnham Centre (JGC), the Sheffield Children’s NHS Foundation Trust and the University of Sheffield.
“Not only has this project produced seven new guides of use to individuals, families and the professionals involved in their care, it has also provided important training and education experience for the next generation of genomic researchers and clinicians.”
University of Sheffield graduate Molly Durbridge, now a Trainee Clinical Scientist in Genomics on the NHS Scientist Training Programme, was delighted to hear their work has been so well received.
“Working with extremely rare diseases means information is often hard to come by, and we have to wade through a lot of technical data just to make sense of it all,” she said.
“In genomics, we're mostly behind the scenes in the lab with minimal patient interaction, even though our work directly helps them. That’s why collaborating with Unique was such a special experience. Hearing families like Bethany’s explain the real-world impact of our work has been incredibly rewarding.”
Miranda Durkie, Rare Disease Lead Scientist for the North East and Yorkshire Genomic Medicine Service, NHS England, echoed the positive impact of the students’ work.
“Through an innovative co-creative approach, this collaboration between Unique and undergraduate students, scientists and clinicians in Sheffield has produced several accessible, high-quality guides in a timely way,” she said.
“These resources will have a meaningful impact for families navigating a diagnosis of a rare genetic disease. We are excited to continue the collaboration and expand this model to help even more families in the future.”
Dr Adam Hodgson, Senior University of Sheffield Lecturer and Director of the Julia Garnham Centre, said: “I built the JGC in partnership with co-director Duncan Baker (Sheffield Children’s NHS Foundation Trust) to provide students in Sheffield with authentic experiences in healthcare genomics, giving them opportunities to have meaningful impact on patients through diagnostic research whilst enhancing their employability.
“Although impactful, students working on placement in our Centre are still at a distance from patients. This project focussed attention directly on patients, their families and the odyssey of uncertainty and struggle through the diagnostic process. I believe one of the most important outcomes from this work was the strong sense of humility and empathy imprinted on students, which they will carry forward into the workplace.”
