Sheffield Children’s scientists share global expertise to improve diagnosis for rare diseases

Sheffield Children’s scientists are helping to improve diagnosis for rare inherited metabolic disorders around the world. 

Camilla Scott, Lead Healthcare Scientist and Clinical Director for the Diagnostics Directorate, and Joanne Croft, Lead Clinical Scientist for Tissue Culture, recently represented Sheffield Children’s at the European Research Network for the Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM) meeting in Madrid.

The global event brought together scientists and clinicians from across the world to share learning and shape best practice in diagnosing rare metabolic conditions that can affect children. 

Improving diagnosis for rare conditions 

Inherited metabolic disorders are a group of genetic conditions where the body cannot properly process certain proteins or enzymes. This can lead to a build-up of harmful chemicals in the body. There are hundreds of different disorders, each caused by specific gene changes, and early diagnosis is key to ensuring the best outcomes for children and families. 

In the Sheffield Children’s specialist metabolic laboratory, scientists analyse patient samples to identify unusual chemical patterns that can point to a diagnosis. Some of these disorders are so rare that only a handful of cases have been identified worldwide. 

Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism supports laboratories across the globe through education and quality assurance schemes. Founded in 1994, the organisation now includes more than 400 participants from 62 countries, creating an international network of collaboration and shared expertise. 

Sharing expertise in Madrid 

At the Madrid meeting, Camilla presented clinical cases and led discussions as part of her role as Scientific Advisor for the Qualitative Urine Organic Acid Scheme. Joanne also presented her work as Scientific Advisor for the Diagnostic Proficiency Scheme. 

“Education, learning and collaboration are really important in our field, and we learn as much from our participants as they do from us,” said Camilla. “This year, one of the cases showed how the wording in a clinical description can affect how people interpret results. It led to really useful conversations about how we can improve.” 

Camilla also chaired a clinical cases session, where presenters from around the world shared challenges and insights. “I’m always fascinated by how different newborn screening programmes can be,” she said. “These conversations can be challenging, but they’re vital for improving diagnosis.” 

Continuing a legacy of leadership 

Sheffield Children’s has a long-standing reputation as a leader in the diagnosis of inherited metabolic disease. Pioneers such as Professors Rodney Pollitt, Anne Green and Jim Bonham helped to establish international quality standards in this field, inspiring future generations of scientists. 

Camila said: “As a leader in child health, it’s important that Sheffield Children’s is represented internationally. Joanne and I are proud to continue the legacy built by our predecessors and to help train the next generation of scientists.” 

A shared commitment to children everywhere 

This work reflects Sheffield Children’s mission of creating a healthier future for children and young people. By working with colleagues around the world, the team is helping to ensure that every child, wherever they live, has access to accurate diagnosis and treatment for rare diseases.