Ciliopathies

Our group has been working for a long time with Dr. Carmen Ayuso (Fundación Jiménez Díaz, Madrid) and Dr. Jose María Millán (IIS La Fe, Valencia) in the study of Retinal Dystrophies at national level.

We have set up a network of international collaborators such as Dr. Phil Beales and Dr. Victor Hernández-Hérnandez (University College London, United Kingdom), Dr. Soren Christensen (Copenhagen), Dr. Jose Luis Badano (Instituto Pasteur de Montevideo, Uruguay).

We are part of the European group Alström Syndrome Europe, in which a group of scientists (Dr. Pietro Maffei, Dr. Tarek Hiwott, Kay Parkinson, Dr. Timothy Barret, Dr. Selma Dulzeni) work both in the differential clinical diagnosis of this type of pathology and its genetic analysis, in addition to carrying out more basic lines of research to unravel the molecular basis of AS. We are also working with pharmaceutical companies in the first clinical trial with this type of patients (Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome).

Also, we are collaborating with Dr. Pep Rotllant (IIM-CSIC, Vigo) in the usage of zebrafish for ALMS and BBS modeling.

PAH

We have been collaborating since 2009 with MD. Adolfo Baloira (Complejo Hospitalario Universitario de Pontevedra, Pontevedra) in the genetic analysis of PAH patients. Due to this work we stablished a long term collaboration with the groups of Dr. Pilar Escribano-Subías (Hospital 12 de octubre, Madrid) and Dr. Pablo Lapunzina (INGEMM-IdiPaz, Madrid) for the functional analysis of Variants of Unknown Significance identified in PAH patients. We also started to collaborate recently with Dr. Ángel Cogolludo and Dr. Francisco Pérez-Vizcaíno in the analysis of missense mutations in potassium channels. We are actively working with the Spanish PAH registry (REHAP), and this year, we are joining the International Consortium for PAH genetic studies (PAHICON).

At an international level, we have performed genetic analysis for the group of Dr. Marie Jose Goumans (LUMC, Netherlands), and we are currently collaborating with Dr. Nick Morrell (University of Cambridge, United Kingdom).