Group Leader/s

 

intro

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

 

Research lines

 

Members

Staff Scientists
Luisa María Botella Cubells
Postdoctorals
Ángel Cuesta Martínez
Predoctoral Students
Lucia Recio Poveda
Visitors
Virginia Albiñana Díaz
 

González-Rodríguez B, Villar Gómez de Las Heras K, Aguirre DT, Rodríguez-Padial L, Albiñana V, Recio-Poveda L, Cuesta AM, Botella LM, Jiménez-Escribano RM  [2019]. Evaluation of the safety and effectiveness of oral propranolol in patients with von Hippel-Lindau disease and retinal hemangioblastomas: phase III clinical trial

Cuesta AM, Albiñana V, Gallardo-Vara E, Recio-Poveda L, de Rojas-P I, de Las Heras KVG, Aguirre DT, Botella LM  [2019]. The ß2-adrenergic receptor antagonist ICI-118,551 blocks the constitutively activated HIF signalling in hemangioblastomas from von Hippel-Lindau disease

Albiñana V, Giménez-Gallego G, García-Mato A, Palacios P, Recio-Poveda L, Cuesta AM, Patier JL, Botella LM  [2019]. Topically Applied Etamsylate: A New Orphan Drug for HHT-Derived Epistaxis (Antiangiogenesis through FGF Pathway Inhibition)

Gallardo-Vara E, Tual-Chalot S, Botella LM, Arthur HM, Bernabeu C  [2018]. Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia

Albiñana V, Escribano RMJ, Soler I, Padial LR, Recio-Poveda L, Villar Gómez de Las Heras K, Botella LM  [2017]. Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

Díaz-Castellanos MA, Gómez de Las Heras KV, Díaz-Redondo T, González-Flores E, Albiñana V, Botella LM  [2017]. Case Report: Propranolol increases the therapeutic response to temozolomide in a patient with metastatic paraganglioma

Albiñana V, Zafra MP, Colau J, Zarrabeitia R, Recio-Poveda L, Olavarrieta L, Pérez-Pérez J, Botella LM  [2017]. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

Zarrabeitia R, Fariñas-Álvarez C, Santibáñez M, Señaris B, Fontalba A, Botella LM, Parra JA  [2017]. Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT). Health Qual Life Outcomes

Zarrabeitia R, Ojeda-Fernandez L, Recio L, Bernabéu C, Parra JA, Albiñana V, Botella LM  [2016]. Bazedoxifene, a new orphan drug for the treatment of bleeding in hereditary haemorrhagic telangiectasia

Ojeda-Fernández L, Recio-Poveda L, Aristorena M, Lastres P, Blanco FJ, Sanz-Rodríguez F, Gallardo-Vara E, de las Casas-Engel M, Corbí Á, Arthur HM, Bernabeu C, Botella LM  [2016]. Mice Lacking Endoglin in Macrophages Show an Impaired Immune Response

 

Funding

 

More info

Currently no information is available