A research project funded by a £1 million grant is underway at Keele University to improve understanding of a rare disease.
Dr Melissa Bowerman is investigating the genetic factors behind Acrodysostosis type 2 (ACRDYS 2).
Partners in the project are Professor George Baillie of the University of Glasgow, Katalytic Therapeutics and families backed by Acrodysostosis Support and Research.
ACRDYS 2 is a developmental disease linked to a variety of symptoms such as small birth size, short height in adulthood, obesity, facial malformations, bone defects, reduced response to certain hormones and impaired brain functions.
The condition is caused by changes in a specific gene, referred to as PDE4D (phosphodiesterase-4 subtype D), which usually controls key functions across a number of different cells and organs.
Dr Bowerman’s research is aimed at helping doctors develop new treatments for individuals living with the condition.
It will evaluate the effectiveness of drugs that block the activity of the PDE4D gene.
The grant has been awarded by the Medical Research Council.
Dr Bowerman, Senior Lecturer in Neuromuscular and Skeletal Disorders at Keele University School of Medicine, said: “We are absolutely thrilled to have been awarded this funding. Like all rare diseases, scientific and medical advancements in ACRDYS 2 research have been slow due to limited dedicated resources and infrastructures.
“This grant will allow us to make significant contributions to the field, which will benefit the entire ACRDYS 2 community.”
