Why we study rare diseases: a parent's perspective

Cristina Dias is a clinical geneticist and clinician scientist in Francois Guillemot’s group at the Crick, studying the molecular mechanisms of a group of neurodevelopment disorders. John Roberts is a parent of a child who is part of a clinical study led by Cristina at Great Ormond Street Hospital. This Rare Disease Day, we sat down with Cristina and John to find out more about research into rare diseases, and how even early-stage research can help create a community for families with children with rare diseases.  

Cristina Dias

What is your background in research?

I am a clinical geneticist by training and I carried out my clinical PhD at the Sanger Institute modelling developmental disorders and trying to find out how and why they occur. As a Wellcome Clinical Research Career Development Fellow I’m now carrying on that work at the Crick and King’s College London and studying intellectual disabilities caused by mutations in genes encoding a protein complex called BAF swi/snf.

Working closely with patients really helps me to understand the needs of the community and set the overall strategy for my research.
Cristina Dias

I’ve been working in the field since 2012 and one of my most significant findings was being part of the team that identified the condition ‘intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH, or ‘Dias-Logan Syndrome') in 2016. 

How does your clinical work with patients direct your research?

My clinical work and research are always very closely connected. Identifying the gene or pathway causing a condition provides additional information to patients and families, and allows us to direct our basic science. We can explore the biological underpinnings of disease using by comparing the clinical and biological features we identify in patients and the biological outputs of our model systems.

Working closely with patients really helps me to understand the needs of the community and set the overall strategy for my research. I know that parents of patients with rare diseases are often struggling with a lack of information, so an important part of my work – both clinical and scientific – is keeping families informed and empowering patients and their families with information. 

Why were you drawn to working on rare diseases?

Although the diseases are individually rare, there are so many rare diseases that they’re collectively very common, and working on rare diseases can impact a huge group of people. I also know how important diagnoses are for patients and right now, 40% of patients with rare genetic diseases don’t have a diagnosis. The advances in field of genomics, along with Genomics England and the NHS specifically, mean that we’re able to give diagnoses more and more frequently now.

Rare disease research has a benefit to society far beyond the people that we might think of as directly affected.
Cristina Dias

The opportunity to do research at a leading research institute like the Crick allows me to take things one step further – having identified the gene change, I can try to understand how that impacts human development and disease. It is a multidisciplinary environment at the Crick and encourages the kind of collaboration that's important for studying rare diseases that frequently affect multiple organs and systems. The Crick's technology platforms are led by experienced scientists who can help us understand how to best use that technology to understand our biological question. 

More broadly, rare diseases can also help us to understand more common diseases. Although I’m working on a specific class of neurodevelopment disorders at the moment, we’re learning a huge amount about how the brain develops and works. Rare disease research has a benefit to society far beyond the people that we might think of as directly affected.

John Roberts

Tell us a bit about your relationship with IDPFH.

My son Joseph is now 15 and when he was born we noticed that he had problems sleeping. When he was around nine months old, he was having trouble sitting upright and was showing signs of developmental delay, although we didn’t call it that at the time.

When you’re a parent of a child with a disease that isn’t well-defined, you constantly want to know as much as possible.
John Roberts

We were referred to Great Ormond Street Hospital and were invited to join the DDD (Deciphering Developmental Disorders) Programme. When you’re a parent of a child with a disease that isn’t well-defined, you constantly want to know as much as possible. If there was ever an opportunity to find out more about Joseph and how we could support him, we jumped at it. 

Thanks to being involved in the DDD programme, Joseph took part in different kinds of genetic testing. That’s how we found out that the gene causing the disease was BCL 11A, and that the disease had a name – IDPFH or Dias-Logan syndrome.

How did having a formal diagnosis make a difference?

You might think that it wouldn’t change anything in our day-to-day life, and in some ways it didn’t. But I can’t describe the sense of relief that we got from having something that we could Google and, crucially, something that we could tell people. 

When people meet Joseph, we’re often asked ‘what he has’ and up until the diagnosis, we had to give people a very long-winded answer which often became a list of symptoms. Now, we can tell people in a simple and straightforward way, and if they want to know more they can ask. Having a short answer to the question gives us the option of not entering into an in-depth conversation with someone if we don’t have the time or the energy! 

How much interaction do you have with other families with IDPFH?

Honestly, not a huge amount at the moment, but we’re hoping for more. There’s an active Facebook group with patients and their families which I’ve joined, and I’m planning to start getting more involved with it. 
In the past, we would feel genuinely jealous of people who had a diagnosis, because we would see groups organising conferences and sharing experiences and we didn’t have that option.

I think scientists have an amazing opportunity to be a hub and build communities around rare diseases
John Roberts

I’m looking forward to being part of a community and doing more to support people like Joseph. I’m currently developing a programme to improve how touchscreens are used by people with moderate to severe learning disabilities, and working with the other families will give me the chance to test it out. 

And how connected do you feel to basic research that’s happening at places like the Crick?

I love to be kept up to date with genetic research that’s happening. I know that I’m not going to be able to understand everything I read, but I have a natural curiosity to find out more about things and obviously that extends to Joseph. I really value organisations that offer different levels of technical information, so that I can gradually work my way up and become more familiar with the science.

I think scientists have an amazing opportunity to be a hub and build communities around rare diseases and I’m excited to see that happen for IDPFH.

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