Global breakthrough offers new insight into condition that causes childhood premature ageing

Hutchinson-Gilford Progeria Syndrome (HGPS) is a fatal, extremely rare condition affecting around one in 20 million children worldwide. It is caused by a gene mutation which produces a faulty protein called progerin – which accelerates cell ageing, leading to severe cardiovascular disease and heart failure in affected children, who often die in their early teens.

Until now access to human progeria cell lines often were produced with non-stable methods that would cause the potential of DNA mutations which would therefore mean downstream analysis would not be correct.

Now – for the first time – researchers at the University of Brighton have produced a way of creating lab-grown stem cell models of Progeria without changing their DNA. These genetically stable, lab-grown heart cells behave just like those found in patients – allowing researchers to watch how the disease rapidly ages the heart without needing rare patient samples, while providing a platform to explore new treatments for both Progeria and age-related heart disease.

Professor Rameen Shakur

The study, led by scientists at the Brighton Integrative Genomics (BIG) Unit, marks a major advance in the global effort to understand the disease and, more widely, the biology of ageing. The new research has now been published in the international journal Ageing Medicine.

The Brighton team – led by Professor Rameen Shakur and visiting stem cell scientist Juned Kadiwala – used an existing reprogramming method (the Sendai virus technique) to turn skin cells from children with Progeria – and their healthy family members – into “master cells” that can turn into any tissue in the body, including heart cells.

Using this process, the team were able to create the world’s first “zero-footprint” stem cells that retain the disease-causing mutation but are genetically stable and accurate to study. When these stem cells were developed into heart cells in the lab, they exhibited hallmark signs of Progeria and premature ageing – helping explain why hearts in children with HGPS age so rapidly.

The new stem cell models provide a valuable tool for experimental treatments, including RNA-based therapies (treatments that use RNA molecules to target or modify specific genes) and small-molecule drugs designed to slow or prevent cardiovascular ageing.

University genomics team

Because patient tissue is so limited, these lab-grown cells give scientists an ethical and effective way to explore the disease in detail – and could serve as a blueprint for tackling other rare genetic disorders.

Professor Shakur said: “This is a landmark for ageing research, bringing us closer to understanding not just Progeria, but the biology of ageing itself. For the first time, we can study Progeria directly in human heart cells. This gives scientists a powerful way to test potential therapies and understand what drives rapid aging in these children. Lab-grown cells mean we can study the disease in ways that weren’t possible before. This work brings hope for developing treatments for children living with this devastating condition.”

Juned Kadiwala added: “Being able to grow patient-specific heart cells in the lab allows us to study the disease in a way that was never possible before. This breakthrough not only accelerates Progeria research but also offers a blueprint for studying other rare genetic diseases where tissue access is limited.”

Although Progeria is rare, the findings have much wider significance. The same protein that drives Progeria, progerin, also accumulates slowly in everyone as we age. Studying it in these new stem cell models could reveal why our blood vessels stiffen, our cells age, and our hearts weaken over time.

The study was carried out by the University of Brighton, with patient samples provided by the Progeria Research Foundation. By sharing their findings openly, the Brighton team hopes to help scientists worldwide better understand accelerated ageing and advance treatments to improve the lives of children affected by this devastating disease.

This work reflects the University of Brighton’s commitment to advancing precision health and addressing today’s most pressing medical challenges. By pioneering new, safe ways to study previously inaccessible conditions, the university aims to shape the future of biomedical research and improve outcomes for patients worldwide.

Staff related to this story

Professor Rameen Shakur

Prof Genomics and Precision Med – School of Applied Sciences