Genetic Medicine

Genetic Medicine Programme:  made up of twelve research groups from different fields, ranging from clinical genetics, molecular genetics, molecular and fundamental biology and bioinformatics.

Rare diseases studied

  • Lafora disease and other rare genetic epilepsies.
  • Neuromuscular diseases: muscular dystrophies, spinal muscular atrophy.
  • Vascular and immune system diseases; disorders affecting the vascular endothelium causing pathologies such as HHT and complement deficiencies.

Objectives

To incorporate Mendelian or complex diseases in which an organ or system of the human body is affected, using the hereditary factor as the fundamental criterion for incorporating these in the programme.

The specific objectives are:

  1. To lead the development of innovations in genomic platforms.
  2. To provide support for preclinical research on rare epilepsies and related diseases, including Lafora disease.
  3. To promote physiopathological study for its therapeutic application and diagnosis in rare and complement-mediated vascular pathologies.

Research groups PdI