George Baillie

Professor George Baillie from the School of Cardiovascular and Metabolic Health and Dr Melissa Bowerman from Keele University have received a multimillion-pound grant from the Medical Research Council to investigate the genetic factors behind the genetic factors behind Acrodysostosis type 2 (ACRDYS 2), in the hope of helping doctors develop new treatments for individuals living with this condition.

As a rare development disorder, ACRDYS 2 can cause a variety of symptoms, such as small birth size, short height in adulthood, obesity, facial malformations, bone defects, low hormone levels, and mental impairment. 

A specific gene called PDE4D (phosphodiesterase-4 subtype D) is responsible for causing the condition, which controls key functions across several cells and organs. 

There is already some knowledge that ACRDYS 2 is caused by abnormally increased activity in the PDE4D gene, but it is unclear how this abnormal genetic activity leads to these symptoms. 

You can find out more here


First published: 10 October 2023