Dr. Moosajee is testing a panel of pharmaceutical small molecule drug therapies to assess their ability to halt the progression of Choroideremia in a subset of affected patients. Dr. Moosajee is focusing on a population of CHM patients whose genetic defect is described as a nonsense mutation. In nonsense mutations, the genetic defect causes an abnormal “stop” sign in the genetic code, which will cause the formation of a non-functional product. It is estimated that approximately 30% of CHM patients express a nonsense mutation. Dr. Moosajee is focusing on a medication called Ataluren, which has been demonstrated to override or “read-through” the nonsense mutation, convincing the cell to create the whole gene product rather than the shortened, non-functional version. Dr. Moosajee has begun her research by treating CHM zebrafish with Ataluren to determine its efficacy. She is collaborating with Dr. Kalatzis to use the CHM retinal cells developed through her independent research. Results so far are indicating that Ataluren is effective in treating models of CHM, hence it could potentially be used as a non-invasive treatment of Choroideremia in the future. Ataluren is currently being tested in clinical trials for other disorders, such as Cystic Fibrosis and Muscular Dystrophy.
Dr Mariya Moosajee, MBBS PhD
NIHR Academic Clinical Lecturer, Department of Ocular Biology and Therapeutics UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, United Kingdom
Mariya Moosajee graduated from Imperial College London with First Class Honours in Biochemistry and Molecular Genetics in 2000, and Medicine (MBBS) in 2003. After completing her core medical and surgical training, she returned to Imperial College London to embark on her PhD in Molecular Ophthalmology, awarded in 2009.
Her research into the molecular defects of inherited eye disease including developing novel therapeutic approaches has resulted in fourteen national and international prizes. In 2009 and 2014, she was presented the Foulds Trophy by the Royal College of Ophthalmologists, considered the most prestigious UK Ophthalmology Research Prize. The latest award was for her work on the use of nonsense suppression drug therapy for the treatment of choroideremia.