Professor Mariya Moosajee

Consultant telephone: 

Adults and Paeds: 0207 566 2344

Area(s) of specialism / subspecialism: 

• Genetic eye disease

Year of first medical qualification: 

2003

Location of initial medical training: 

Imperial College London

Further key experience: 

• International expert in genetic eye disease, with a focus on establishing a molecular diagnosis for patients to improve genetic counselling. 
• Provides advice on prognosis and associated disease risks, develops new therapies and identifies individuals who may be eligible for current and future treatments.
• Heads a research team across UCL Institute of Ophthalmology and Moorfields Eye Hospital NHS Foundation Trust developing new treatments. 
• Develops gene therapy and small molecule drugs for treating inherited retinal dystrophies such as choroideremia, Leber congenital amaurosis, retinitis pigmentosa, Usher syndrome, and congenital eye defects to prevent, slow or halt disease progression or improve vision.
• Undertakes detailed natural history studies to understand disease progression, identify the optimal therapeutic window and determine reliable outcome measures for clinical trials.
• Committed to optimising the multi-disciplinary clinical care pathways for patients with eye disease and syndromes.
• Medical advisor for the Microphthalmia, Anophthalmia, and Coloboma Support (MACS) Charity (http://macs.org.uk) and Aniridia Network UK (https://aniridia.org.uk).
• President of UK Eye Genetic Group
• President of Women in Vision UK
• Creator of Gene Vision, full accessible web resource on genetic eye disease for patients and healthcare professionals: https://gene.vision

Date joined Moorfields: 

2010

Membership of professional /national/regional bodies: 

• Member of the General Medical Council (GMC).
• Member of the Association of Research in Vision and Ophthalmology (ARVO).
• Member of the European Paediatric Ophthalmology Society.
• Member of the British Isles Paediatric Ophthalmology and Strabismus Association.
• Member of the Genetics Society.
• Member of the UK Eye Genetic Group.
• Member of the Medical Protection Society.

Current NHS/university posts, whether full/part time, and starting year: 

• Senior clinical lecturer and Wellcome Trust Beit Prize Clinical Research Career Development Fellow, UCL Institute of Ophthalmology. Group leader, started in 2011.
• Honorary consultant ophthalmologist, Great Ormond Street Hospital for Children, London.
• Professor of Molecular Ophthalmology, University College London Institute of Ophthalmology 2020
• Group Leader of Ocular Genomics and Therapeutics, The Francis Crick Institute 2020 

Other professional achievements: 

• Bachelor of Science (BSc) in Biochemistry and Molecular Genetics, first class honours, Imperial College London, 2000.
• Bachelor of Medicine and Surgery (MBBS), Imperial College London, 2003.
• Doctor of Philosophy (PhD) in Molecular Ophthalmology, Imperial College London, 2009.
• Fellow of the Royal College of Ophthalmologists, London (FRCOphth), 2014.
• Dr Moosajee has won over 30 international and national prizes and awards for her research and was the first ophthalmologist in the UK to receive the prestigious Wellcome Trust Beit Prize Clinical Research Development Fellowship.
• For her scientific publications visit: https://www.ncbi.nlm.nih.gov/pubmed/?term=moosajee+m

Research interests: 

Genetic eye disease is a leading cause of blindness among infants, children and adults. Dr Mariya Moosajee is focused on:

• Understanding the molecular basis of inherited eye disorders, in particular the genetics of retinal dystrophies and ocular maldevelopment such as microphthalmia, anophthalmia, ocular coloboma and anterior segment dysgenesis.
• Establishing the genotype-phenotype relationship through clinical deep phenotyping studies to identify optimal therapeutic windows and outcome measures for clinical trials, patient risk stratification as significant rates of systemic disease association to ensure the appropriate multidisciplinary clinical pathways for best patient care.
• Development of novel therapeutic approaches for genetic eye disease including nonsense suppression therapy (ataluren, PTC-derivatives, NB compounds and amlexanox) anti-cell death and antioxidant drugs, and gene therapy using non-viral gene delivery systems including scaffold matrix attachment region (S/MAR) vectors.

Any other personal interests/background information that may be relevant: 

• Dr Mariya Moosajee is the chair of the Moorfields Eye Hospital arts committee. For any art and music related queries please email: moorfields.art@nhs.net