By Dr Joanna Jacków-Malinowska

 

My name is Dr Joanna Jacków-Malinowska and I’m a lecturer (assistant professor) at King’s College London, St John’s Institute of Dermatology.

 

Which aspect of EB are you most interested in?

I trained as a biologist with a focus on molecular biology of diseases. This means understanding how disease symptoms are caused at the level of molecules within the cells of our bodies. I am interested in understanding how cancer develops from non-healing EB wounds, particularly in the most severe forms such as recessive dystrophic epidermolysis bullosa (RDEB). Through my research, I would like to come up with a therapeutic solution that can change the lives of people living with EB.

EB is a skin disorder caused by mistakes in the sequence of the genes that tell our bodies how to make specific skin proteins. Without enough of these skin proteins, the skin isn’t strong enough and extensive blistering occurs. To allow the body to create functional skin protein, the genes need to be repaired. The CRIPSR-Cas9 system allows us to cut and paste pieces of genes. When the potential of using the CRISPR-Cas9 system for correcting broken genes became apparent to me, I knew that I wanted to follow this path and eventually be able to develop a cure for inherited diseases including EB.

 

What difference will your work make to people living with EB?

Using our gene editing approach, we hope that we can create a non-invasive and permanent treatment for EB patients which will be soon accessible to all patients all over the world. This would mean a cream or gel to deliver the therapy (no surgery, biopsies or grafts), and, once the skin had been treated, the therapy wouldn’t need to be repeated. Through our work on cancer development, we aim to better understand the role of the immune system in cancer progression and development. We would like to find a switching point molecule, which is a molecule that appears (or disappears) when cells become cancerous. We could then regulate this molecule with a therapy that switches it off or on if needed to prevent the development of cancer.

 

Who/what inspired you to work on EB?

Being a researcher is not a job, it is a lifestyle that you either love or hate. If you love it, you dedicate your life for it with a passion. When I graduated from university and was looking for PhD positions, I knew I wanted to work in a medical research area on aspects related to treatments and therapy development. From opportunities I had after I finished my diploma at the Albert-Ludwig University in Freiburg, Germany, I started working at the Dermatology Department of the University Clinic in Freiburg in the laboratory directed by Prof Lenna Bruckner-Tuderman who was my PhD supervisor. My project tackled basic aspects of how collagen XVII was involved in JEB symptoms.

However, there were other researchers that worked on different possible therapies that could help EB patients which fascinated me a lot. I wanted to follow this path, especially when I met patients with EB. From that day I knew that I would have to work hard and learn a lot to be able to make significant contributions. After I finished my PhD, I went to work as a postdoctoral research fellow in Prof Alain Hovnanian’s laboratory at the Imagine Institute in Paris. The work I conducted in Alain’s laboratory gave me a solid foundation and better understanding of how to work on gene and cell therapy projects and which aspects are important. Alain’s dedication and commitment to EB inspired me even more and ground in the fact that I should continue my journey.

Another key point of my research journey was the possibility to go to the USA to join Prof Angela Christiano’s laboratory at Columbia University in New York City. When I got this offer, I had just published my three-year project from Alain’s laboratory and was ready to move to New York. The project I was supposed to work on and develop further in Angela’s laboratory was on CRISPR and induced pluripotent stem cells (iPSCs) – both state of the art techniques that I was interested to learn. I worked hard to satisfy my mentor Angela and convinced her I should stay in her laboratory.

During my stay at Columbia, I was also a part of a new iPSC and gene editing consortium built between three laboratories: ours at Columbia, Prof Anthony Oro’s at Stanford, and Prof Denise Roop’s at Colorado University. The creativity and dedication of each team enormously contributed to my motivation and inspiration to work on EB. With the opportunity to join St John’s Institute of Dermatology at King’s College London I am now pursuing my journey independently, being further inspired by colleagues, mentors, and my amazing boss, Prof John McGrath.

To sum up, I believe that my inspirations to work on EB came from different places and events and is thanks to the amazing people I have met who were living with or working on EB.

 

What does the funding from DEBRA UK mean to you?

I am very grateful for the current support from DEBRA UK. Through the grant I recently received I am able to expand my newly established team and offer a postdoctoral position to a very talented PhD student who just finished her PhD. She approached me a long time ago, before she even graduated, with an interest in joining my team to work on EB. Our whole team hopes that the newly funded project, which explores the very modern technology of gene editing, will result in new knowledge and bring us one step closer to a new treatment.

 

What does a day in your life as an EB researcher look like?

I like reading scientific papers in the morning to get myself inspired for the day. It stimulates my brain and gives me the power and motivation to go through the day. I often send some interesting papers to my lab members and ask them to read the papers too, to have a good scientific discussion later that day. Meetings with students and collaborators take a substantial amount of my time during a day. I have days dedicated exclusively for the writing of grants and papers, as well as for the preparation of lectures and presentations for teaching and conferences. Occasionally, I go to the laboratory to help my students and postdocs with new experiments and ideas. This is very important for me to stay connected with the lab work which was always a joy and inspiration. Each day looks very different for me and often things that are not planned may happen that completely change my plan for the day. I never get bored at work and there is never enough time to do everything that I would like to accomplish each day.

 

Who’s on your team and what do they do to support your EB research?

Through my international education and training I like to work with national and international students who are motivated to support EB research with full dedication. My team consists of one postdoctoral researcher, one research assistant, three PhD students and depending on the semester usually three or four master’s students every year. Everyone in my team is assigned to one aspect of the research that we are doing in the field of EB. The scientific outcomes from each of them build a whole story which we are able to publish one by one. I love my team and really enjoy working with them on a daily basis.

 

How do you relax when you’re not working on EB?

I like spending my free time actively. I hike, run, cycle, play tennis and dance. I also like traveling and exploring new places and cultures.

 

What these words mean:

Gene editing = making changes to the genes within a cell.

Induced pluripotent stem cells (iPSC) = cells taken from different parts of an adult’s body that have been specially treated so they can turn into many different cell types.

Non-invasive = treatment that doesn’t involve putting an instrument through the skin or into a body opening.

Postdoc = a postdoctoral researcher – someone who has already completed a PhD research qualification and is continuing their research.

 

Full glossary of scientific terms