By Dr Laura Valinotto

My name is Laura Valinotto, MSc PhD. I’m a researcher at the National Scientific and Technical Research Council (CONICET) of Argentina, and Co-founder and Principal Investigator of the Centre for Research in Genodermatosis and epidermolysis bullosa (CEDIGEA), at the School of Medicine, University of Buenos Aires (UBA).

One of the main objectives of CEDIGEA in Argentina is to provide all EB patients with an accurate diagnosis. This allows us to better and more effectively address the symptoms they suffer from, manage pain, and provide the interdisciplinary care they need for a better quality of life, regardless of their socioeconomic status. Our goal in this project is to study our EBS patients’ clinical symptoms and their genetic diagnosis. This will increase the scientific knowledge around EBS in South America and contribute more diversity to the EBS data available to everyone.

 

Which aspect of EB are you most interested in?

I'm particularly interested in the genetic changes that cause EB in South America. This means understanding the most common genetic changes in our EB patients in this region. When we began diagnosing EB patients in our lab, it was a real challenge to determine whether specific genetic changes (gene variants) were causing the disease. This was because we found variants not previously documented in the scientific literature or EB databases, mostly due to the majority of research being primarily conducted in the USA or Europe. We realised that very little was known about the genetic basis of the disease among South American populations, so we set out to build our Argentinean database. Interestingly, we discovered that many of our patients came from Bolivia and Paraguay. By publishing our findings on the variants we identified in dystrophic and Kindler EB, we showed researchers across the world the unique variants that are present in our region. Our aim now is to expand our research to include other EB types, specifically EBS.

 

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

Families which Valinotto and her team have helped.

The impact is two-fold. First, at the individual level, our research provides EB patients with access to a genetic diagnosis, enabling them to know the specific type and subtype of EB they have. This is crucial for tailoring their care for a better quality of life and offering genetic counselling for those planning a family. It is also vital to have this information to participate in clinical trials. Secondly, our collective findings will help shorten the diagnostic journey for future EB patients. By gathering information about the number of different variants in our region, we can develop a cost-effective way of providing a timely diagnosis to families. Analysing our results might also reveal which symptoms are most often associated with specific genetic changes and allow any newly diagnosed people to better understand how their EB might progress and what treatments would be most beneficial. Furthermore, in populations with unexplored genetic backgrounds, our studies could unveil a previously unknown diversity of EB-causing genetic changes, which should be considered by researchers working on new gene therapies.

 

Who/what inspired you to work on EB?

My journey into EB research was sparked by a chance encounter with Dr Graciela Manzur, a dedicated paediatric dermatologist. She visited my lab while I was working on my PhD thesis, inquiring whether the genetic sequencing equipment in my lab could be used to diagnose EB patients. Her genuine concern for her patients was truly moving. Dr Manzur, now the director of CEDIGEA, constantly goes above and beyond to provide medical care and emotional support to her patients.

Upon learning more about EB, I began volunteering to provide genetic testing to her patients. I vividly recall one of our first patients, a young girl who travelled over 3000 kilometres with her mother in search of a diagnosis. She had grown weary of seeing doctors and when she saw me, she hid and cried, saying she was “allergic” to white coats. This inspired me to find a way to provide diagnoses as quickly as possible, regardless of a patient's socio-economic status. We also work to raise awareness among the medical community about EB so patients could be recognised promptly in the cities where they live.

 

What does the funding from DEBRA mean to you?

In Argentina, the costs for EB genetic testing are not covered by the public health system and are hardly covered by private health insurance. This is why we established CEDIGEA, which not only provides clinical diagnosis and patient care but also conducts research. DEBRA UK's funding is incredibly meaningful to us. It allows us to obtain essential research data while offering our patients free genetic tests, many of whom come from low-income families. This funding will enable us to continue working with EB simplex patients and make further progress.

 

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

Each day is quite dynamic, with no fixed schedule. I usually start my day by dropping my daughters off at school, followed by arriving at the lab and preparing a "mate," our Argentinean tea. My daily tasks include analysing patient test results, and designing new strategies when results are unclear. I write project applications for funding and plan the shopping list of ingredients for our laboratory experiments and where to get them. It is part of a researcher’s role to share new findings, so I spend time working on research papers for publication and reviewing articles that other researchers have submitted for publication in international journals. I always make time for meetings with my Master’s degree and PhD students to guide their research, and attend courses and conferences to keep learning and sharing knowledge.

 

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

The CEDIGEA team consists of dedicated individuals who play vital roles in our research. Dr Graciela Manzur, a paediatric dermatologist, paediatrician, and neonatologist (specialist in caring for new babies), is the director of CEDIGEA. She provides direct care to our patients and collaborates with dermatologists and neonatologists from across the country. Two paediatric dermatologists, Dr Luz Velazquez Perdomo and Dr Heliana Hernandez Herrera, support her in the early detection and care of patients. They ensure that patients living outside Buenos Aires receive the best care without having to travel long distances. The multidisciplinary medical staff at the Hospital de Clínicas at the University of Buenos Aires is also a crucial support to our team.

Behind the scenes, biochemist Mónica Natale reads through all the clinical files to determine the most suitable tests for each patient and manages communication with doctors in our network across Argentina, Paraguay, and Bolivia. She ensures that the right tests are performed, analyses the clinical data to provide results as quickly as possible, and prepares the final reports. Biochemist Silvina Lusso performs the lab experiments required for genetic diagnosis, and Carla Beltrán, our technician, provides essential support in carrying out those experiments.

On our team, we're fortunate to have Cheryl Gilchrist, our dedicated secretary, and Agostina Diez, our media manager. They play a crucial role in organising our annual conferences and meetings, as well as in enhancing CEDIGEA's visibility. Their efforts help make it easier for EB patients to connect with us.

 

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

I find relaxation in my daily 40-minute yoga routine, which helps me transition from research mode to family mode. Surprisingly, working on EB research is not stressful for me; it's my passion, and I genuinely enjoy it. Of course, like any job, there are challenges, such as broken lab equipment or shortages of the lab ingredients we need, which can be stressful at times. However, the rewarding nature of the work makes it all worthwhile.

 

What these words mean:

Biochemist = someone specialising in the chemistry that happens inside living creatures

Dermatologist = skin specialist doctor

Molecular or genetic diagnosis = identifying the specific DNA change causing a person’s EB symptoms

Neonatologist = doctor specialising in care of new babies

Paediatrician = doctor specialising in care of children

Paediatric dermatologist = doctor specialising in the skin of children

 

Full glossary of scientific terms