Sheffield Children’s geneticist brings global rare disease conference to the city

Leading researchers, clinicians and families from around the world gathered in Sheffield this week for an international conference dedicated to advancing research into rare genetic conditions.

The International HNRNP Gene Family and Research Summit was brought to the city by Professor Meena Balasubramanian, Clinical Director of Research at Sheffield Children’s, reinforcing the Trust’s growing reputation as a centre of excellence for rare disease research.

Organised by the HNRNP Family Foundation, the conference brings together experts and families living with HNRNP-related neurodevelopmental disorders – a rare group of genetic conditions that can affect brain development, learning and communication.

Unlike disorder-specific organisations, the HNRNP Family Foundation supports families across the spectrum of HNRNP-related conditions, creating a community that connects patients, funds research and strengthens partnerships between scientists and those living with these disorders.

For Professor Balasubramanian, bringing the conference to Sheffield reflects years of commitment to ensuring rare diseases receive the attention they deserve.

Professor Balasubramanian said: “Every child with a rare disease deserves the opportunity to benefit from the very best research and clinical care. While each individual condition may affect only a small number of people, collectively rare diseases impact millions of families worldwide.

“Events like this are incredibly important because they bring together researchers, clinicians and, most importantly, families. When we listen to families and work together across disciplines and across countries, we accelerate discoveries that can improve diagnosis, develop new treatments and ultimately transform lives.

“Sheffield Children’s has a long history of combining compassionate care with pioneering research, and we are proud to welcome the international rare disease community to Sheffield. By building these partnerships, we are helping shape the future of care for children with rare genetic conditions.”

The conference was an opportunity for families to connect with others facing similar experiences while enabling researchers to share the latest scientific discoveries and identify new opportunities for collaboration.

The HNRNP Family Foundation was founded by parents who recognised the isolation and uncertainty that often follows a rare diagnosis. In the absence of existing support networks, they created a global community to ensure families could access information, support and hope, while working directly with scientists to advance understanding of these complex conditions.

Leila Margolis, Board President of the HNRNP Family Foundation added: “The Foundation is delighted to bring this event to the UK and grow the community. Given the rarity of HNRNP disorders, being able to learn from each other is vital. The struggles our families go through are very real and any improvements we collectively make should be available globally.”

For 150 years, Sheffield Children’s has combined pioneering research with compassionate care. As it looks towards its next 150 years, its commitment to advancing rare disease research continues to bring together expertise from across the world, helping deliver earlier diagnoses, better treatments and brighter futures for children and families living with rare conditions.