Women and Girls in Science

This International Day of Women and Girls in Science, on 11 February, we’d like to celebrate the incredible work of researcher Dr Sara Benedetti.

Dr Benedetti's research focuses on Krabbe Disease, a rare Lysosomal Storage Disorder that causes most affected children to lose their lives within two years. The research project was funded in partnership with Krabbe UK, to improve treatments for children with this devastating disease.

“Krabbe disease affects many parts of the body,” says lead researcher Dr Sara Benedetti, based at the ICH. “In particular, the toxic build-up causes brain cells to degenerate, so children experience seizures, lose their sight and hearing, and progressively and relentlessly lose all of their faculties.

“We know that special cells in the blood – known as blood stem cells – can reach the brain and turn into another type of cell known as a microglial cell. Those cells are great at clearing up the toxic build-up, so they could prevent the devastating brain degeneration we see in these patients.

“The idea of my project is to get as many of these blood stem cells into the brain as possible. But because our brain is so precious, it is protected by a ‘gateway’ known as the blood-brain barrier (BBB). The BBB determines which cells or molecules are allowed in or out of the brain. My aim is to modify that barrier to temporarily ‘open the gates’, so we can flood the brain with extra blood stem cells. Once in the brain, those cells will become microglial cells and clear up as much of the toxic build-up as possible. We’ll do this in the lab and in mice, to ensure it’s safe before it’s tested in patients.

“Krabbe disease is our focus, because these children desperately need an effective treatment. But the principle could be applied to any LSD that causes brain damage and possibly, in the future, to neurodegenerative diseases like Alzheimer’s or Parkinson’s.”
Dr Sara Benedetti’s research was funded through the 2018/19 Sparks and GOSH Charity national call, with partner funding from Krabbe UK.

“GOSH Charity, Sparks and other charities like Krabbe UK partnering together is absolutely fundamental to researchers like me getting funding. It means there is a pot of money for clinicians and scientists across the UK to access and use to push forward new treatments. I can’t stress how vital that is to the future of child health.”