Groups in the Programme


Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders (Dr. C. Espinos)


Molecular Neuroendocrinology (Dr. D. Burks & Dr. L Noon)


Oncogenic Signalling (Dr. R. Farrás)


Molecular Basis of Human Disease


Programme Manager: Deborah J. Burks

The programme MOLECULAR BASIS OF HUMAN DISEASE is focused on the research of the causes and mechanisms of several human diseases with emphasis in rare diseases, metabolic diseases and cancer. The overarching goal is to generate knowledge that will contribute to improve the diagnosis and the development of specific therapeutic strategies.

The strategy to achieve our goals is based on three basic pillars:

(i) To do science that is focused on the three areas included in the programme: rare diseases, metabolic diseases and cancer.

(ii) To boost the current research lines in each group, exploring synergies between the programme groups in order to expand the vision of the existing research projects and to create new ones based on the complementary expertise of each group.

(iii) To promote a model of translational research and biomedical innovation in which we can translate our research into new diagnosis tools, biomarkers and therapeutic targets.

The diseases investigated in the programme of MOLECULAR BASIS OF HUMAN DISEASE are nosologically and etiologically disparate entities, but quite often they involve some common pathophysiological pathways. The programme put special emphasis in some of these common themes:

  • Regulation of gene expression involved in cell specialization and response to stimuli/aggressions.
  • Signaling networks and cell cycle control.
  • Mechanisms of intracelular protein degradation, vesicular trafficking and apoptosis.
  • Mitochondrial dysfunction and oxidative stress.

Studies carried out by the different research teams are performed from a multidisciplinary perspective with a variety of approaches: biochemical, biophysical, molecular and cell biology, genetics, microbiology and genetic engineering and pathology. We also have the support of the different services that exist in the CIPF. Among the wide range of technological platforms available are sequencing methods at different levels, including NGS (Next Generation Sequencing), gene expression, proteomics, cytomics, functional assays, genetic and biochemical molecular analyses histopathological characterization including electronic and confocal microscopy, etc. For all these studies we use human samples (in deep-phenotyped clinical series), animal models (Drosophila melanogaster, Caenorhabditis elegans and murine models) and cell models (established cell lines from animals and humans, primary cultures, yeast, bacteria).

Joint Units with other Institutions


Diseases Mechanisms and Nanomedicine (UPV)


Rare Diseases (INCLIVA)


Rare Diseases (IIS La Fe)