First Person is a series of interviews with the first authors of a selection of papers published in Biology Open, helping researchers promote themselves alongside their papers. Ariadna Carol Illa is first author on ‘ From early development to maturity: a phenotypic analysis of the Townes sickle cell disease mice’, published in BiO. Ariadna is a PhD student in the lab of Søren Skov (first affiliation), Carsten Dan Ley (second affiliation) at the University of Copenhagen, and Novo Nordisk, Denmark, investigating in vivo models and blood diseases, such as sickle cell disease.

Ariadna Carol Illa

Describe your scientific journey and your current research focus

I have always been a curious person, eager to understand how things work, and what better challenge than studying one of nature's most complex machines, the human body? This curiosity led me to pursue a bachelor's degree in biology, focusing on molecular biology. Realising the need to bridge the gap between molecular mechanisms and their effects on the whole organism, I pursued a master's degree in translational medicine at the University of Barcelona, Spain. This experience helped me link laboratory research more closely with patient care. This interest led me to focus on in vivo research, particularly on sickle cell disease during my PhD. Working with the Townes mouse model for the disease, to better understand the disease's pathophysiology and to improve the translatability of preclinical findings to clinical settings.

Who or what inspired you to become a scientist?

I've always been curious about how things work, especially the human body and how it is such a well-functioning machine. In school, I was fascinated by biology and the idea that we could understand and potentially fix what's wrong when people get sick. That curiosity led me to pursue a career in science. The combination of solving complex problems and the potential to make a difference is what keeps me motivated.

How would you explain the main finding of your paper?

In our study, we examined a mouse model of sickle cell disease to better understand how the disease develops and affects the body over time. We used a specific type of genetically modified mouse, known as the Townes mouse, which mimics many features of human sickle cell disease. We studied these mice from a young age (4 weeks) until they were fully mature (5 months). Our main discovery is that the key features of sickle cell disease in these mice, such as anaemia (low red blood cell count), organ damage and inflammation, remained relatively stable over the study period. This stability indicates that there is a specific phase of the disease where the condition does not worsen significantly, making it an ideal time for us to test potential treatments without the added complications of disease progression.

We also introduced a new, advanced method using artificial intelligence to analyse liver tissue damage more accurately. This method provided a detailed, quantitative assessment of liver damage, which is a significant complication in sickle cell disease.

What are the potential implications of this finding for your field of research?

Overall, the findings from our study are important for future research because they offer valuable insights into the disease's behaviour in this mouse model. This information can help scientists design better preclinical studies and ultimately contributing to the development of more effective treatments for sickle cell disease.

Blood smear from a homozygous Townes sickle cell mouse (HbSS). Various white blood cells (WBCs) can be observed (black), as well as the characteristic sickled red blood cells (red), which have an abnormal crescent or ‘sickle’ shape due to the presence of defective haemoglobin (HbS). Additionally, there is a significant presence of reticulocytes (blue), which are immature red blood cells. This abundance is due to the ongoing anaemia in the mice, as their bodies attempt to compensate for the loss of mature red blood cells by producing more reticulocytes.

Blood smear from a homozygous Townes sickle cell mouse (HbSS). Various white blood cells (WBCs) can be observed (black), as well as the characteristic sickled red blood cells (red), which have an abnormal crescent or ‘sickle’ shape due to the presence of defective haemoglobin (HbS). Additionally, there is a significant presence of reticulocytes (blue), which are immature red blood cells. This abundance is due to the ongoing anaemia in the mice, as their bodies attempt to compensate for the loss of mature red blood cells by producing more reticulocytes.

Which part of this research project was the most rewarding?

The most rewarding part of this project was integrating the relatively big dataset into a coherent ‘picture’ as well as developing an AI-based tool to quantify liver damage. This innovation not only improved the accuracy and objectivity of our assessments but also demonstrated the potential for integrating advanced technologies into biomedical research.

What do you enjoy most about being an early-career researcher?

I enjoy the freedom to explore new ideas and the constant learning that comes with it. There's room for trial and error, which allows for creativity and innovation.

Stay curious and persistent

What piece of advice would you give to the next generation of researchers?

Stay curious and persistent. Research can be challenging and sometimes frustrating, but perseverance is key. Don't be afraid to ask questions and seek guidance from mentors and colleagues.

Tell us something interesting about yourself that wouldn't be on your CV

One interesting fact about me is that I really enjoy baking. I find it quite similar to conducting experiments in the lab, but with much more room for mistakes. Baking allows me to be creative and experiment with different ingredients and techniques. It's a great way to relax and unwind, and even when things don't turn out perfectly, it will mostly still taste pretty good!

Ariadna Carol Illa's contact details: Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark. Rare Disease Research, Global Drug Discovery, Novo Nordisk A/S, Måløv, Denmark.

E-mail: [email protected]

Illa
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A. C.
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Hvid
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Elm
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T.
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Frederiksen
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C. A.
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Bangshof
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L. F.
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Danielsen
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D. F.
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Skov
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Dan Ley
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2025
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From early development to maturity: a phenotypic analysis of the Townes sickle cell disease mice
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Biol. Open
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14
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bio061828
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