The focus of the MHE Research Foundation is to find a cure for Multiple Hereditary Exostoses, a rare genetic bone disorder. The disorder causes people to grow exostoses (bone tumours) on their bones.

MHE patients can also suffer from non-skeletal medical issues including mental and neurological issues. At this time, there is no treatment or cure. Surgery, physical therapy and pain management are currently the only options in management of the condition.

Mutations in a gene known as EXT1 cause MHE. Dr. Yamaguchi created a mouse model, in which the EXT1 gene can be experimentally disrupted in tissues and organs of interest. His research has provided insights into why MHE patients suffer from non-skeletal medical problems.

Dr. Yamaguchi has recently shown that mutations in the EXT1 gene can cause dysfunction of nerve cells, providing a clue as to why MHE patients sometimes associate mental and neurological symptoms.

Today, the mouse model is being used in more than 20 laboratories around the world, helping researchers explore the function of the EXT1 gene in a variety of organs and tissues. “Dr. Yu Yamaguchi has expanded the frontiers of understanding of MHE,” said Sarah Ziegler, MHE Research Foundation Vice President. “These insights also suggest potential novel approaches that can be explored in order to make the dream of a treatment into a reality.” Ziegler is also the mother of a son with MHE.; Source: Burnham Institute for Medical Research