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Dr Joe Rainger on the genetics of birth defects

From cooking for the Spice Girls, to having his own research group investigating causes of congenital diseases.

Joe Rainger's group in the lab
Joe Rainger's research group in the lab at Roslin.

Dr Joe Rainger is a UKRI Future Leaders Fellow at the Roslin Institute. In this interview he tells MSc Science Communications student Anna Purdue about the motivations behind his genetics research, which involves investigating the causes of diseases that originate in the embryo.

Can you tell me about your work in a nutshell?

Our research objectives are to understand the genetic causes and the environmental factors that influence normal developmental processes. Our overall aim is to help identify the causes of birth defects in children and determine how we might prevent them.

My research background was focused on identifying the genetic causes of eye malformations such as absent or very small eyes. I then became particularly interested in finding mutations in patients that cause a condition where tissues in their developing retina don’t fuse together properly. This tissue-fusion disease, known as coloboma, is one of the leading causes of childhood blindness in the UK.

There are also many other tissue fusion events that occur during embryonic development, and multiple conditions that can arise where these aren’t able to complete correctly, such as cleft palate or spina bifida. Our recent work has found several key genes that guide different tissues to fuse throughout the developing embryo. The major challenge for us now is to investigate in detail how these genes regulate tissue fusion processes at the molecular and cell-behavioural levels, and what environmental factors may perturb these.

What is a real world application of your work?

For me, the most important thing is knowing that reducing the incidence of certain birth defects is possible by understanding their causes and taking preventative measures. For example, pregnant women can take folic acid as a supplement to reduce the chances of their child having spina bifida. We hope our work may uncover other preventative measures with similar impact on human health, but also give us a much improved understanding of how genes function in development and disease and to discover the underlying cause of childhood disorders.

Why did you decide to become a scientist? What made you choose this particular area of research?

My parents always encouraged me to ask “why?”. Growing up, I had a very strong interest in the natural world — I was a member of several nature groups and a keen birdwatcher. This developed into wanting to understand how natural processes are controlled.

As a scientist, you have to have a background passion, but you also have to be realistic and do work that is likely to have a real world impact, and be fundable. I have always been interested in embryonic development and how it links with human genetics. My PhD research involved identifying mutations in genes that led to children being born with no eyes or very small eyes.

I was very lucky during this time to work with a paediatric clinician who had direct access to patients with eye defects for whom identifying the cause of their condition was very important to them and their families.

When next-generation sequencing began to be applied in research settings, we began to attempt to identify mutations in patients with coloboma, as that was the largest cohort of patients we had. Mutations in a wide range of different genes were already known to cause this disease, but for more than 70 per cent of patients no such mutations had been found. The scenario is very similar for many other fusion defects. Although we were able to identify some new candidate genes and mutations, it was very difficult to find confirmed causative genetic defects in most of the patients.

This led me to try a different approach and I moved to the Roslin Institute, holding a charity fellowship from Fight for Sight to try to establish the chicken as a model system to study these developmental processes and identify new tissue-fusion genes. Because of how successful the work has been, I’ve since been able to get much more significant research funding from UKRI to further develop my own research group and take this work into exciting new directions.

Why did you decide to work at the Roslin Institute and what do you like best about working here?

Roslin is world-leading in poultry research – we’ve got the National Avian Research Facility here, with some of the world’s leading genetic researchers and fantastic resources, including imaging. The embryology skills and expertise was also a major attraction, and the globally unique development of transgenic chicken lines.

We use chicken embryos as an experimental system because they are an accessible, experimentally-versatile, and biologically-faithful model with which to study human health and disease, especially developmental processes such as tissue fusion.

We have everything we need here to do the science I want to do! My favourite thing about Roslin is the environment as a whole – the people, the facilities, the expertise, and the actual building. It’s very bright and we get some fantastic views. Because we’re positioned out here in the Mid-Lothain countryside, there are no urban distractions and I’m able to run in the hills at lunchtime. It’s a very positive environment.

What kind of challenges do you face as a scientist?

Time is often the biggest challenge, because you’re always trying to fit in more work in or move on to the next piece of research. There’s still so much to find out!

How is it to do science from home during the Covid-19 lockdown?

It’s been difficult, but also a good opportunity to consolidate what we know, to learn new data analysis skills, and to plan how to move forward and test new hypotheses once we return to the office. It’s also helped focus on re-establishing a healthier work-life balance.

Finally, what do you think you would be doing if you weren’t a scientist?

I went to university when I finished school, but at the time it wasn’t really for me so I ended up going into catering, which I did for six years. I worked in London for some really fancy restaurants. I cooked for some very famous people, such as Leonardo DiCaprio, Tony Blair, Boris Becker and the Spice Girls.

I came back to Edinburgh in the 1990s and the food scene here hadn’t really picked up yet, so I went back to university to study biochemistry. If I wasn’t doing this, I’d probably still be a chef but I like to think I’d be pretty experimental with my cooking!

Related links

Eye disease patients to benefit from chicken study

Facility to boost research into animal and human health

Fellowship supports research into birth defects