Sheffield Students Produce Life-Changing Rare Disease Guides for Families Worldwide
Key Insights
University of Sheffield students from the Julia Garnham Centre created seven comprehensive guides covering extremely rare genetic conditions, now available globally through the charity Unique (search).
The guides translate complex genomic data into accessible information, offering families clarity after diagnoses that often leave them with unanswered questions.
For one family affected by TRIO-Related Neurodevelopmental Disorder (search), the student-produced booklet replaced years of explaining the condition to doctors and provided hope by showing adults living fulfilling lives.
A team of ten students from the University of Sheffield's Julia Garnham Centre (JGC) has produced a series of comprehensive information guides on extremely rare genetic conditions, now available to families across the globe through the UK-based international charity Unique (search). The initiative, funded by Research England's Higher Education Innovation Fund (HEIF), addresses a critical gap in accessible, medically verified information for families navigating life-altering rare disease diagnoses.
The students' finished guides cover seven extremely rare conditions, translating highly technical genomic research into clear, practical resources for families and the healthcare professionals involved in their care.
Bridging the Information Gap in Rare Disease
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 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 (search) 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. The Julia Garnham Centre approached Unique, offering its students and support from clinical and academic staff to bring this vital new initiative to life.
A Family's Journey: TRIO-Related Neurodevelopmental Disorder (search)
For Bethany Stanford-Turner, whose 14-year-old daughter Delilah has TRIO-Related Neurodevelopmental Disorder (search) (TRIO (search)-NDD), the student-produced guide has been transformative. 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, though its severity and symptoms differ greatly from person to person. Only around 450 known cases exist worldwide.
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 received the diagnosis two years later. Yet the incredibly rare nature of the condition meant doctors were unable to answer their many questions.
"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."
She added: "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 (search)-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."
Training the Next Generation of Genomic Scientists
The Julia Garnham Centre is 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. Dr Adam Hodgson, Senior University Lecturer and Director of the JGC, built the centre in partnership with co-director Duncan Baker at Sheffield Children's to provide students with authentic experiences in healthcare genomics.
"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," said Dr Hodgson. "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."
University of Sheffield graduate Molly Durbridge, now a Trainee Clinical Scientist in Genomics on the NHS Scientist Training Programme, reflected on the experience: "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. 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 (search) was such a special experience. Hearing families like Bethany's explain the real-world impact of our work has been incredibly rewarding."
Expanding the Model
Dr Claire Andersen, Scientific Communications Manager at Unique (search), said: "We continually strive to find innovative ways to increase our guide output, while ensuring the highest possible quality is maintained. 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."
Miranda Durkie, Rare Disease Lead Scientist for the North East and Yorkshire Genomic Medicine Service, NHS England, echoed this sentiment: "Through an innovative co-creative approach, this collaboration between Unique (search) and undergraduate students, scientists and clinicians in Sheffield has produced several accessible, high-quality guides in a timely way. 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."