The University of Glasgow and Keele University have received a prestigious million-pound grant from the Medical Research Council to improve our understanding of a rare developmental disorder.
The research, led by Prof George Baillie at the University of Glasgow and Dr Melissa Bowerman at Keele University, is investigating the genetic factors behind Acrodysostosis type 2 (ACRDYS 2), in the hope of helping doctors develop new treatments for individuals living with this condition.
ACRDYS 2 is a rare developmental disease that can cause 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.
Scientists know already that ACRDYS 2 is caused by abnormally increased activity in the PDE4D gene, but what they don’t know is how this abnormal genetic activity leads to this range of symptoms.
This new study, led by Dr Bowerman and Professor George Baillie, funded with over £1 million from the Medical Research Council, will evaluate the effectiveness of drugs that block the activity of the PDE4D gene, and aims to better understand the disease itself to help guide development of new treatments that can prevent or slow down the symptoms of ACRDYS 2.
The project brings together academics, industry (Katalytic Therapeutics) and families (Acrodysostosis Support and Research).
George Baillie, Professor of Molecular Pharmacology at the University of Glasgow’s School of Cardiovascular and Metabolic Health, said: “We are excited by the possibility of discovering a novel therapeutic for this rare disease, which is untreatable at the moment.
“Acrodysostosis is caused by point mutations in the enzyme Phospodiesterase 4D (PDE4D). In conjunction with Katalytic Therapeutics, we have developed an inhibitor that selects the mutant PDE4D enzymes over wild type.
“In Glasgow, we will be testing the new inhibitors on cells derived from the rodent model of Acrodysostosis, and we are hopeful it will lead to new treaatment options for patients.”
Dr Bowerman, from Keele University, 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.”