Brain Sciences


Mariya Moosajee

Professor Mariya Moosajee is a clinician-scientist, and holds a Chair in Molecular Ophthalmology at the Institute of Ophthalmology specialising in genetic eye disease. She is also a Wellcome Trust Beit Prize Clinical Research Career Development Fellow and a Consultant Ophthalmologist at Moorfields Eye Hospital and Great Ormond Street Hospital for Children.

Mariya Moosajee

To mark International Day of Women and Girls in Science and International Women's Day, we caught up with Professor Moosajee to ask her about her research, her advice for women who want to follow a career in scientific research and her goals for the future.

What sparked your interest in studying ophthalmology?

When I was around eight years old, Blue Peter had a campaign on river blindness in Africa. Onchocerciasis is caused by infection with the parasitic worm Onchocerca volvulus, which is spread through the bite of a black fly. The drug ivermectin can be used to treat the infection and prevent blindness. Since then, I was always interested in eyes and their wonderous capability to process our surroundings with such colour, detail and intricacy.

Fortuitously during my BSc, I spent my research project extracting RNA from foetal ocular tissue and looking for EFEMP1 gene expression levels, which when mutated causes a very rare disease called Doyne honeycomb retinal dystrophy. At the time, I was also enthralled by the Human Genome Project and hence my path was set on a career focused on genetic eye diseases.

It’s a clinical speciality which requires active research as the majority of our patients do not know their molecular diagnosis and there are very few treatments available to them. I find this a really stimulating and cutting edge area of ophthalmology, as we really are at the forefront of genomic and personalised medicine.

How have developments in gene therapy affected your field of research?

Having the first approved retinal gene therapy, voretigene neparvovec or Luxturna, on the NHS has renewed hope among patients with genetic eye disease. Luxturna was given Food and Drug Administration (FDA) approval in 2018 for treating biallelic RPE65 variants causing Leber congenital amaurosis and retinitis pigmentosa. It uses the adeno-associated virus (AAV) vector to deliver the transgene to the retinal pigment epithelium.

However, there are challenges that still need to be addressed including the vector carrying capacity which is <5kb in gene (cDNA) size, ensuring long-term gene expression, preventing genome integration and reducing the inflammatory response. This has spurred on my research to develop an alternative gene augmentation approach using non-viral DNA plasmid vectors, which can accommodate genes of any size, and maintain episomal transgene expression with a lower risk of eliciting an immune response as no viral components.

Are there any breakthroughs in treating genetic eye diseases that you foresee in the near future – for example, how close are we to curing blindness?

I truly believe that this field is moving at such a rapid pace with huge scientific investment, that we will see several genetic-based therapies emerge as potential treatments in the future. This includes but is not limited to further gene therapies, the use of in vivo CRISPR-Cas9 gene editing, small molecule drugs targeting particular mutation types in a disease and gene-independent manner, and RNA therapies including antisense oligonucleotides and short hairpin RNA interference. But all these approaches will only halt or slow disease progression, they will not cure blindness.

If the cells in the retina are alive but sick, we have a chance to help them work better and so some improvement in vision may be gleaned. But if they have died, then regenerative medicine will be the only hope, and although much research is underway with the use of stem cells this will take more time before we can reverse chronic progressive inherited sight loss.

You spoke recently about how Covid has worsened the frightening visual hallucinations experienced by patients with Charles Bonnet Syndrome. Can you tell us more about this?

Charles Bonnet syndrome (CBS) is characterised by visual hallucinations in individuals who are experiencing sight loss, with no psychiatric or cognitive basis. It can affect individuals of any age, including children. I recently published the largest case series of 13 young patients with CBS in the British Journal of Ophthalmology, where all the patients had either inherited retinal diseases or congenital eye disorders.

Over the first lockdown, I undertook weekly voluntary “Ask the expert” sessions for three UK sight loss charities; Aniridia Network, Microphthalmia, Anophthalmia and Coloboma Support Charity and Retina UK. I spoke to patients from across the UK, and a common complaint was an exacerbation of their visual hallucinations. So I undertook a more formal study which confirmed 56% of patients reported increased frequency of visual hallucinations, with 47% and 53% reporting changes in the nature and emotional response, respectively, with hallucinations being more sinister and fearful. Loneliness through social isolation, exposure to upsetting news stories and lack of exercise were considered environmental triggers.

We do not ask or advise patients about CBS enough, but it's really important to raise this as it can avoid unnecessary fear and anxiety of suffering from mental health issues or dementia, and there are relatively straightforward coping mechanisms that can help the majority of patients.

You have recently taken on the role of Academic Lead for Early Career Researchers at the Institute of Ophthalmology. Why did you decide to take on that role and what do you aim to achieve?

I remember the phone call from the Wellcome Trust informing me of my successful fellowship application back in late 2016, and this July I was promoted to Professor of Molecular Ophthalmology, a dream come true.

There has definitely been a transition in my motivation at work from a degree of self-fulfilment to now helping others develop their careers to achieve their goals, and building a legacy. I applied for the Academic Lead for Early Career Researchers (ECRs) because I genuinely feel that I have so much advice and experience to impart, and a real commitment to empower junior colleagues. I hope to inspire and engage as many of them as possible at the Institute of Ophthalmology and across the Faculty of Brain Sciences.

I want to deliver a programme of events that will offer them opportunities to develop skills, build life-long networks, share knowledge and get the support for their next career step. I would love to encourage peer-support, mentorship and collaboration to ensure that they embed these virtues into their future working lives to ensure we maintain a healthy research culture.

You are an advocate for redressing the gender imbalance in ophthalmology. How do you think more women could be encouraged to work in this area?

I am the current President of Women in Vision UK, and this network was founded by myself, Prof Maryse Bailly and Prof Julie Daniels based at UCL Institute of Ophthalmology. We have over 350 female members across all fields of ophthalmology and vision research across the UK. It is clear that the amount of women entering these related specialties, as clinical trainees or PhD students/post-docs, is equal to men. However, the representation across hospitals drops off at senior levels with only 31% of consultant ophthalmologists being female in the UK, and a much lower percentage for female professors across higher education institutions and research-intensive universities.

So in order to retain and attract more women into our field, we need to make changes at the top so they know it's not a dead end, and there are equal opportunities in sight. I have seen change over the past few years, but I think there is still a massive amount to do including addressing diversity.  

I would encourage everyone to actively think about who is in your lab or team, who is making decisions, who is representing us on the executive or scientific meetings, then we can continue to make positive changes.

What specific advice do you have for young women – particularly those from BAME backgrounds who are interesting in following a career in science?

You can achieve anything you want if you put your mind to it. Don’t let self-doubt creep in, do not waste time worrying about how people will perceive you because of your ethnicity or gender. You cannot change these things. Follow your dreams, work hard, and your achievements will shine through. Be proud of who you are. And if anyone tries to block you unfairly, then please speak up for yourself and others, that is the only way the world around you will change for the better.

We all have our lived experiences of racism and sexism, and people like myself will continue to stand against it to allow your path to the top to be fair, with equal opportunities. Also join networks like Women in Vision UK: it will give you access to a  resource of exceptionally successful women from all walks of life and at all stages of their career who genuinely want to help and support younger women in their careers.

Do you have any skills or talents that most people don’t know about?

I love art and craft, I used to be a really good oil painter and sold my work to support myself during medical school, but I don’t have much time to devote to this while being a mum to twins. So I spend my time with them being creative.

Who is someone you admire, and why?

I admire a lot of people, especially those who have made great discoveries like Jennifer Doudna, or stand up for what they believe such as Malala Yousafzai. But I actually have great admiration for everyday decent people who work hard, have good intentions and do the best for those around them.

As a clinician in the NHS, I have always been impressed by our clinical teams, our focus is always the patient and providing the best possible care, but it’s the implicit trust that you can rely on your team member to carry out their designated role. This is highlighted in emergency situations like cardiac arrests and right now by the intensive care teams working tirelessly through the pandemic. I think research teams could learn from this mutual respect, collaboration and trust; I certainly try to foster that in my own team at UCL.

What’s a goal you have for yourself that you want to accomplish in the next year?

I am writing a book for Springer Nature on Genomic Ophthalmology and I hope this will be published in 2021. It has been brilliant working with great minds across ophthalmology clinical and research disciplines.

I also have three PhD students who should be finishing this year, so I am really keen to support them and ensure that despite the pandemic, they will achieve their research goals. I will feel incredibly proud to see them gain their doctorates.