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January 2023

EURORDIS Black Pearl Awards 2023: The power of putting patients’ interests at the heart of research


Each year, the EURORDIS Black Pearl Awards honour and recognise exceptionally accomplished individuals and organisations that are building a better future for people living with a rare disease.

Today, we are celebrating the work of Dr Luisa Maria Botella Cubells, a professor and researcher at the forefront of the push for scientific advancements for people living with rare diseases.

Meet Dr Luisa Maria Botella Cubells – 2023 Scientific Awardee

Dr Botella is a molecular biologist and geneticist, currently researching at the National Research Council of Spain (CSIC). She first became interested in the rare disease field in 2001 when she learnt that mutations in the gene she was studying, Endoglin, caused Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. This rare inherited condition causes the improper formation of the blood vessels (vascular dysplasia). The first symptom is often chronic nosebleeds but it can lead to more serious conditions such as abnormalities affecting the lungs, brain, spinal cord and liver. 

Upon learning about the impact of Endoglin mutations, Dr Botella felt called to seek and learn from patients with HHT, to better understand the condition. She soon redirected her work away from basic to translational research and towards biomedicine for rare diseases. She has remained dedicated to the field ever since.

While she continues to research HHT, she has also started working on von Hippel Lindau disease (VHL), and more recently, on Cerebral Familiar Cavernomatosis (CCM). However, she refuses to restrict herself to these areas of expertise, assisting patients and clinicians wherever possible through collaboration on genetic diagnoses.

Try for a moment to be in the position of a mother, a father or a patient with a rare disease, where doctors say there is no cure, no treatment, and where research is scarce. Research is necessary for any disease, but rare diseases are neglected compared to any other disease.

Dr Luisa Maria Botella Cubells, researcher at the National Research Council of Spain (CSIC) and contributor to the founding of  the Spanish Hereditary Hemorrhagic Telangiectasia (HHT) patient association.

What makes Dr Botella stand out from the crowd is her patient-centric approach to her work. When asked why her work is important for the rare disease community, she answers that the question should be reversed: Why is the rare disease community important to her? She explains that they are the centre and focus of her research, and that her main motivation will always remain her patients and their families. She has found great happiness in her life since becoming involved in the rare disease community, both professionally and personally. Her patients regularly speak to her dedication, passion and enthusiasm. 

Patients and families living with a rare disease are part of my family, a huge family all over the world. I love them, they help me to become a better human being.

Dr Luisa Maria Botella Cubells, researcher at the National Research Council of Spain (CSIC) and  contributor to the founding of  the Spanish Hereditary Hemorrhagic Telangiectasia (HHT) patient association.

Perhaps her most noteworthy achievement is in the contributions she has made to finding new treatments and orphan drugs which revolutionise the lives of her patients. Dr Botella has had four orphan drug designations awarded by the European Medicines Agency (EMA) – three for HHT and one  for VHL – as well as two licensed patents for therapy in VHL and glioblastoma. When asked what she feels her greatest scientific achievement has been, she once again brings it back to her patients, explaining that she is proud of everything she has contributed to improving the life of someone living with a rare disease, large or small. She does, however, highlight the memory of travelling to London in February 2010 with colleagues and the pride she felt in successfully defending the orphan drug designation of Raloxifene hydrochloride for HHT in front of the EMA. 

When asked about what winning a Black Pearl Award means to her, Dr Botella answers that she is deeply honoured, while also feeling that the award comes with great responsibility. Having seen her friend Claudia Crocione win the EURORDIS Volunteer Award in 2020, she is proud to have been chosen to stand alongside previous Black Pearl Award winners.

Ultimately, she stresses her gratitude to the patients who have supported her work and nomination for this award.

Register to attend the 2023 Black Pearl Awards

The work of Dr Botella is changing the lives of people living with a rare disease across the globe, in no small part thanks to her unfailing commitment to our community.

Join us in celebrating her and her life-changing contributions to science, alongside our other Black Pearl Awardees!


Read more about this award and our other winners.


Rhiannon Walls, Junior Communications Manager