• Dr Melissa Bowerman has received a prestigious grant to improve our understanding of a rare developmental disorder. 
• The research team 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, and is caused by abnormally increased activity in a specific gene that usually controls key functions across several different cells and organs. 

Improving medical understanding 

A Keele University scientist has received a prestigious million-pound grant from the Medical Research Council to improve our understanding of a rare developmental disorder. 

Dr Melissa Bowerman’s research 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. 

Bridging gaps in knowledge 

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, 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 (Dr Bowerman and Professor Baillie of the University of Glasgow), industry (Katalytic Therapeutics) and families (Acrodysostosis Support and Research). 

Dr Bowerman 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.”