The Academy of Medical Sciences fund research into novel therapies

The Academy of Medical Sciences is funding cutting-edge medicines discovery research for lysosomal storage disorders.

Dr Helen Waller-Evans from the Medicines Discovery Institute at Cardiff University has been granted the AMS Springboard Award of £99,591, funding investigations into new treatments for Niemann-Pick Type C disease.

The grant will support the development of a laboratory test that will analyse the impact of potential therapies on the protein NPC1. NPC1 is involved in transporting fats in cells and this protein plays a role in several diseases, including lysosomal storage diseases like Niemann-Pick Type C disease.

Dr Helen Waller-Evans, Medicines Discovery Institute, said: “Diseases of the NPC1 protein disrupt the normal transport of fat and cholesterol in cellular structures called lysosomes.

“Niemann-Pick Type C disease affects around one in every 100,000 people. In this condition, a genetic mutation leads to a deficiency of the NPC1 protein and an abnormal build-up of fats within cells.

“Patients with the disease can experience a wide range of symptoms, including an enlarged spleen or liver, as well as neurological conditions.”

Dr Helen Waller-Evans’ research focuses on developing therapies that act on lysosomal proteins and characterising the function of potential drug targets. Her laboratory works to develop tests that assess the effects of novel drugs.

“NPC1 is implicated in several lysosomal storage disorders, and this funding will help us develop tools to investigate potential therapies.

“This funding from the Academic of Medical Sciences will provide the foundation for us to screen for new drugs that will help to treat several lysosomal storage disorders such as Niemann-Pick Type C disease.

“This also has the potential in the future to be used in other diseases associated with the NPC1 protein, such as tuberculosis and Ebola.

“This protein plays a pivotal role in viral infections in diseases like Ebola, as the virus uses the NPC1 protein to gain entry into the cell. It’s possible that the knowledge we gain could have clinical applications for other diseases,” added Dr Waller-Evans.