Aaron Jesuthasan

• MBBS
• Fainting and weakness: novel approaches to solve common problems

DNA sends codes to our body to induce the production of specific proteins.  If the DNA is faulty, it can result in abnormal protein production leading to disease.   I aimed to search for any mistakes in the DNA of three patients suffering rare diseases, hoping to find a cause of their disease. 

The first patient suffered limb-girdle muscular dystrophy, a disease characterised by muscle weakness predominantly in the shoulder and hip regions.  The other two patients were related to one another and suffered vasovagal syncope, a condition characterised by an abnormal lowering of blood pressure leading to fainting.           

Project Supervisor: Prof Patrick Chinnery, Institute of Genetic Medicine

Funding source: INSPIRE