Rare diseases (RD) are named after its incidence: lower than 5:10,000 inhabitants. They are characteristically chronic and debilitating disorders. Since near than 7,000 different rare pathologies have been described, it is not so rare to have a rare disease. The numbers speak for themselves: 3 million people in Spain, between 30-40 million European citizens, and 6-8% (600 millions) of the population worldwide are affected by them.
RD are multisystemic disorders comprising all the spectrum of pathologies and they can appear throughout the lifespan of the patients. Typically rare diseases are highly underdiagnosed, there is a lack of active research, and they are orphans in therapeutic drugs. Therefore, the therapies for these diseases are designated as “orphan drugs”.
For all these reasons, research in diagnosis, molecular basis and therapies in RD is urgent and it is a challenge that modern medicine needs to face.
Our group is deeply involved in the research of two RD with vascular involvement. Since 2002, we have been working on Hereditary Hemorrhagic Telangiectasia (HHT), and since 2013 on Von Hippel-Lindau (VHL).
HHT is an autosomal dominant vascular dysplasia with a prevalence of 1 in 5,000-8,000.
VHL is a rare oncological disease with autosomal dominant inheritance, with a prevalence of 1 in 36,000.
Our lab works towards:
- genetic diagnosis
- molecular basis of the diseases
- search of therapies
The search for therapies aims at alleviating the patients’ symptoms and thus increasing their quality of life. During last years our research has contributed significantly to increase the option of using different drugs, leading to a pharmacological repurposing in these rare diseases, achieved the designation of 4 orphan drugs by EMA; three of them for HHT - raloxifene, bazedoxifene, and etamsylate, and one for VHL - propranolol