During our online meetup earlier this year to mark Aniridia Day and Father’s Day, we were given a preview of an important new research project.

Harriet, an MSc Genetic Counselling student from Cardiff University, is preparing to conduct a study with Aniridia Network, which will ask the question: “What is the impact on family members of the diagnosis of aniridia in a child, and what would help?“

She will soon be recruiting parents and other family members for interviews about their experiences, and she will explain what the project involves and how you can take part.

This is a fantastic opportunity for you to directly shape research that could improve support for families. We will share the details on how to get involved once the recruitment process begins.

Check out the video and transcript of Harriet’s talk below.

Transcript

So I will be conducting a qualitative research study through Aniridia Network, where I’ll explore the psychosocial impacts on family members of the diagnosis of aniridia in a child and what would help. The word psychosocial relates to anything to do with quality of life, experiences, emotions, relationships, employment, so it’s basically anything that isn’t to do with the clinical experience of someone’s eye condition.

So just as an outline to my presentation, I’ll talk through what my research project is planning to investigate, what the recruitment and participation will look like, and then at the end of the presentation I can answer any questions people might have and discuss the logistics of signing up if you are interested to be interviewed by me for this research project.

So just to introduce myself briefly, I have just finished the second year of my master’s studying genetic and genomic counselling through Cardiff University. And as part of my second year just gone I did a clinical placement at Moorfields Eye Hospital, where I supported patients and families with various genetic vision and hearing loss conditions. And since then I’ve been working in the North West Thames Regional Genetics Service in London, where I work with genetic counsellors supporting families with a wide range of genetic conditions, anything from hereditary cancer to rare diseases. And after this summer I’m about to start my third year of my master’s and this is where I’ll be conducting this research project.

So just a bit about the aims of this research project. Up until now no research has specifically explored the psychosocial impacts of a child’s congenital aniridia diagnosis on family members. So that’s what this study seeks to address in this research gap.

And in addition there’s also a gap in research comparing if there’s a difference in both family’s experience and support needs between familial and sporadic cases of aniridia. So hopefully research findings from this proposed study can guide how patient organisations such as Aniridia Network in the UK can better support families at the time of diagnosis.

And then also hopefully these findings can help inform how NHS ophthalmology, paediatric and clinical genetics services can organise these specialist pathways, and improve training for genetic counsellors and other health care professionals involved in patients care. So this project will seek to find out what sort of information, support and resources family members feel that would have helped them at the time of diagnosis.

So I’m going to talk a bit about the sort of research that already exists and why further research is needed. At the moment most existing clinical literature focuses on the phenotype and management of aniridia and less emphasis on the psychosocial impact. And in particular there’s a lack of diagnosis-focused research, how the diagnosis impacts families and how the experience potentially differs between sporadic and familial cases.

There was a study published in 2025 by Ancona and researchers, where they explored the lived experience of congenital aniridia. And key themes identified in this study included independence, bullying, feeling misunderstood and the requirement for both psychological and practical support, especially at the diagnosis stage. And then furthermore existing research exploring parental and family members’ experience of receiving a genetic diagnosis for their child largely centres on developmental delay, intellectual disability and complex rare conditions.

So given this research gap in understanding how families experience an aniridia diagnosis, it’s really essential to consider the role of communication in influencing their early diagnosis journey. And then understanding how a diagnosis impacts family members from the outset is also essential, because early support and clear communication can positively influence coping trajectories, which could potentially alleviate any psychosocial difficulties that patients and families experience later in life.

And then to do with the rare disease support needs, parents and caregivers of children with rare diseases frequently bear the responsibility of identifying reliable and accurate information about their child’s condition. And particularly in the absence of specialised centres and healthcare professionals, families turn to patient organisation support groups such as Aniridia Network for practical and emotional support and advice. So this research project will be investigating what is a very under-explored area.

So a bit about participation in my research project. Participation is entirely voluntary and it’s up to you to decide whether or not to take part. If you decide to take part, I’ll discuss the research project with you and ask you to provide your verbal consent which will be recorded in a consent form and also audio recorded.

And just to mention that your decision to take part or not to take part will not affect any support relationship you may have with Aniridia Network. And if you change your mind you’re free to withdraw your consent to participate in the research project at any time without giving a reason, even after signing the consent form.

So a bit about how recruitment works. Recruitment will hopefully take place between September and October 2026, and this is following ethical approval I have to get from the university.

Once recruitment starts, any interested participants will be emailed a participant information sheet and the consent form to sign. And this participant information sheet will outline the study’s purpose and aims, some benefits, risks and the data collection use and storage strategies.

These two documents will also be attached to all of the study recruitment advertisements that will go out in a couple of months. And these will be posted on Aniridia Network social media and distributed via the email list as well. And members are very welcome to forward the recruitment advert and form onto any relatives or partners, whoever else, the caregivers and impacted people that might be interested in taking part.

Participation will involve an interview with me for approximately an hour, usually over video call or we can do telephone if that suits better, and we can pick a date and a time that works for each participant. The topics and the discussion in the interview will be about your experiences of a family member’s diagnosis of aniridia, and what support you had and would have ideally needed. So you’ll be asked about whether your family member has familial or sporadic aniridia and how you think this may have affected your experience with aniridia more broadly.

And then just to note all signed consent forms, audio recordings and interview transcripts are stored securely on Cardiff University’s OneDrive for data protection. And audio recordings will be transcribed immediately and anonymised to maintain participant confidentiality by removing any identifiable information.

In terms of results, the main result will be for me to write this up as a dissertation for my master’s and this would also be accessible to any Aniridia Network members if they would like a copy of it themselves, and it could be published on the website. And at the end of the year I’ll also write up a summary to be sent around to participants and anyone interested. And just to note that no participant identifying information will be attached or included in any of the research study outputs, it’s all anonymised.

This summer I’m submitting my research project proposal for an ethical opinion review by the Cardiff University School of Medicine Research Ethics Committee, and then as soon as I receive a favourable ethical opinion I can officially start recruiting.

So advertisements will hopefully be published around September/October and recruitment emails sent around this time too if people are interested in taking part. And this will have my email and contact details on for people to get in touch with me if they would like to participate or just ask any further questions about it, and then I’ll send you across the participant information sheet and consent forms to sign.