Moorfields London Consultant and Leading Researcher to Speak on Genetic Eye Diseases During Clinical Visit to Dubai

Dr. Mariya Moosajee, MBBS BSc PhD FRCOphth, Consultant Ophthalmologist from Moorfields Eye Hospital London and an eminent researcher specialising in Genetic Eye Disease, will be a keynote speaker at the 17^th Emirates Society of Ophthalmology (ESO) conference, 14-16 December 2017, in Dubai. Dr. Moosajee will speak on 'Genomic Medicine for Inherited Retinal Diseases', and will be joined at the conference by colleagues and fellow speakers from Moorfields Eye Hospital London, Dubai and Abu Dhabi. Dr. Moosajee's clinical focus is on developing a Genomic Service for children and adults affected with genetic eye disease. She will also be consulting patients through dedicated Genetic clinics with genetic testing and counselling for families to be held at Moorfields in Dubai, during her visit.

     (Photo: http://mma.prnewswire.com/media/609262/Dr_Mariya_Moosajee.jpg )

According to Dr Moosajee, we are entering an era of personalised medicine, and in her presentation to ESO she will highlight how we are translating science to medicine using genome, stem cells, gene therapy and pharmacological small molecule drugs for the treatment of inherited retinal diseases.

Dr. Moosajee graduated with First Class Honours in Biochemistry and Molecular Genetics in 2000, Medicine (MBBS) in 2003, and was awarded her PhD in Molecular Ophthalmology in 2009 all from Imperial College London. She completed her NIHR Academic Clinical Lectureship in 2016 and became the first Ophthalmologist to be awarded the prestigious Wellcome Trust Beit Prize Clinical Research Development Fellowship. She has won 30 international and national prizes for her research and published over 40 peer-reviewed publications.

Dr. Moosajee is also an Honorary Consultant Ophthalmologist at Great Ormond Street Hospital for Children in London. In addition, she is a Senior Lecturer at University College London (UCL) Institute of Ophthalmology, London, where she leads a large research team focused on identifying the genes that cause eye disease and developing new treatments for patients. She is a lecturer in Communication Skills, Embryology and Genetics for BSc, MSc and MBBS students, at both UCL and Imperial College London.

Speaking about the visit, Mariano Gonzalez, Managing Director at Moorfields Eye Hospital Dubai said: "We are delighted to be hosting Dr. Moosajee in Dubai, where she will share her ground-breaking research work into a range of genetic eye diseases at the ESO conference and take time to meet patients and advise families, in a series of special clinics that we will host for her, at the hospital. Moorfields is also supporting ESO with several of our London, Dubai and Abu Dhabi based teams of Consultant Ophthalmologists speaking on their areas of special interest."

Visiting Consultant Dr Moosajee will conduct consultations, can organise genetic testing and provide counselling for patients and families that suffer from any form of Genetic Eye Disease, ranging birth and childhood eye defects to inherited retinal degenerations, at Moorfields Eye Hospital Dubai on Thursday December 14^th, 2017. For more information or for bookings visit http://www.moorfields.ae/dubai, or call +9714 429 7888.

Notes to editors: 

Genomic Medicine for Inherited Retinal Diseases 

Abstract 

Certifications for visual impairment and blindness in children due to inherited retinal diseases are increasing and it is the commonest cause in working age adults. We have made significant advances improving our genetic diagnostic rates using the latest technology, whole genome sequencing, which can read all 3 billion letters of our genetic code. But as yet no effective treatments are available for patients. We are entering an era of personalised medicine and Dr Moosajee will highlight how we are translating science to medicine using our genome, stem cells, and pharmacological small molecule drugs for the treatment of inherited retinal diseases.

Nonsense mutations are estimated to cause up to 70% of human genetic disease, with approximately one-third causing inherited retinal dystrophies including choroideremia, Leber's congenital amaurosis, Usher syndrome and retinitis pigmentosa. We have tested small molecule drugs to suppress the fidelity of the ribosome during protein synthesis so that a near cognate amino acid could be inserted instead of a release factor at the premature termination codon site resulting in partial restoration of full-length, functional protein. This has been successful in human cellular and zebrafish models of choroideremia and related retinal dystrophies with phenotypic and functional rescue. We can measure mRNA transcript levels in a patients' cells to determine the activity of nonsense mediated decay (a surveillance mechanism that acts to remove deleterious transcripts containing nonsense mutations to prevent translation of potentially toxic protein); but this can also act as a prognostic indicator as mRNA acts as a substrate for these drugs. Currently natural history studies are underway for Choroideremia and Usher syndrome to identify outcome measures for a forthcoming phase 2 clinical trial with the small molecule drug ataluren, which is planned for the next 12-18 months.

In principle, early administration of nonsense suppression therapy could arrest disease progression and even prevent this form of genetic blindness. Small molecule drugs may be delivered in combination with viral gene therapy or as an alternative treatment if gene therapy is not possible e.g. due to large gene size and restrictions in vector capacity as with USH2A-related retinitis pigmentosa. A molecular therapy that safely targets nonsense mutations could provide a viable treatment for a substantial proportion of patients, in a disease- and gene-independent manner, making the approach both practical and economical.

About Moorfields Eye Hospital Dubai 

Moorfields Eye Hospital Dubai (MEHD) is the first overseas branch of Moorfields Eye Hospital NHS Foundation Trust, the oldest and one of the largest centres for ophthalmic treatment, teaching and research in the world. Located at the Al Razi Medical Complex in Dubai Health Care City, the facility provides day case surgery and outpatient diagnostic and treatment services, for a variety of surgical and non-surgical eye conditions. MEHD will also raise standards for research and teaching in the region. MEHD is owned and managed by the NHS Foundation Trust, and maintains close links with London, to ensure that patients in the GCC receive the best eye care treatment in the world.