By Dr Christine Chiaverini

I am Dr Christine Chiaverini. I am a dermatologist, but I also have a PhD in Biology and have worked at the EB reference center in Nice, France, since 2008. I am the head of a small but very motivated and dynamic team, with a clinical part that takes care of patients and a biological part that takes care of EB diagnosis and research.

 

Which aspect of EB are you most interested in?

I have been working for many years on treating EB with existing drugs. Indeed, whatever the subtype of EB, in addition to well-known skin fragility linked to a genetic change in one of the genes for a skin protein, there is equally important inflammation that will sometimes dramatically worsen the disease. This can lead to slow wound healing, scarring, blistering or itching. A better understanding of the process of inflammation, allows us to select and try out drugs that will reduce it and improve quality of life for people living with EB.

 

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

The aim of my work is to test apremliast, an anti-inflammatory treatment taken as a tablet by people with psoriasis, in a large enough number of patients with severe generalised EBS to show that it is truly effective. We hope to significantly reduce the number of blisters in patients and thus improve their quality of life, reduce their care time and their pain, and allow them to do more things in their daily lives.

 

Who/what inspired you to work on EB?

When I was a young student (a long time ago), I spent a year in the research laboratory of Professor Ortonne and Dr Meneguzzi, who worked a lot on EB and in particular the junctional subtype. I remain marked by the suffering of these children.

 

What does the funding from DEBRA UK mean to you?

The funding from DEBRA UK will finally allow me to carry out my work, initiated in 2017, on the inflammatory mechanisms involved in generalized EBS and show the therapeutic value of apremilast. If this trial confirms my initial results, I hope that the treatment will become available to all patients worldwide.

 

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

A classic day starts at the hospital at 8:30 am by reading emails, including those from patients, and answering questions from Marion and Mathilde who are our two EB nurses. They are the pillars of the center because they are on the front line with patients. The morning continues with seeing patients at the center and discussing with colleagues how to improve their care. The afternoon is often reserved for writing letters, articles or protocols to share our results, seeking project funding, and unfortunately a lot of administrative work. End of the day is at 18:00.

 

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

All team members are involved in EB research at different and often multiple levels. Nurses are essential for all therapeutic studies as they are the ones who provide the care, collect the different samples and organize the attendance of patients. They are also conducting an ongoing clinical research study to improve these processes. Mr Rapp is a part-time clinical research assistant. He helps us a lot in the creation and management of databases and research protocols and is responsible for sharing information on our website. In the laboratory we have Ms Heim, who carries out the testing of skin biopsies and genetic samples while working simultaneously on an EB research project in an INSERM (French National Institute of Health and Medical Research) research laboratory. Dr Francou, our biologist, is responsible for the genetic diagnosis of inherited EB. We are working together on research projects on this diagnosis and genetic aspect of EB. Medically, we supervise interns and assistants in the referral center who regularly carry out clinical research work on EB. I am a principal investigator and co-investigator of several clinical and therapeutic studies on EB, as well as my colleague Dr Hubiche who works part time in the center. Finally, many of our medical and non-medical colleagues (dentists, ophthalmologists, rehabilitation workers and psychologists) with whom we work in the center, are involved in different European projects via DEBRA or the EB clinical network (EB-Clinet), writing guidelines, participating in studies and/or developing their own research on EB.

 

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

To relax in my free time, I like to read and go hiking in the mountains with my dog. I am lucky to have the sea and the mountains nearby from Nice.

 

What these words mean:

Dermatologist = skin specialist doctor

Inflammation = increase of blood flow bringing immune cells and proteins to a damaged part of the body

Psoriasis = a condition where skin cells are made too quickly and build up into flaky patches

Generalised severe EBS = EB simplex in which blistering is more widespread across the body and throughout the year

 

Full glossary of scientific terms