Area 5


Team leader

Strategic objectives

To clinically, cytogenetic and molecular characterize rare genetic diseases. There are four main research lines. Each line has the strategic objectives defined by the supporting research projects. In this context, the study of intellectual disability (ID) and the identification of the causal genetic factors are based on the application of high performance array CGH and Next Generation Sequencing (NGS) technologies. On the other hand, the study of fragile X–associated tremor/ataxia syndrome (FXTAS) aims to identify a biological marker that might allow FXTAS presymptomatic diagnosis. Regarding the porphyrias, the strategic objective is to advance in our knowledge of the correlation genotype – phenotype: biochemical and clinical expression.

Main lines of research

  1. Identification of genetic bases of intellectual disability (ID), both syndromic and non-syndromic, using new technologies such as NGS. The application of high throughputsequencing to different groups of clinically well characterized ID patients will allow us to identify new genes and to establish new molecular causes of ID.
  2. Fragile X syndrome: Study of the FMR1 premutation associated pathologies: FXPOI (fragile X-associated primary ovarian insufficiency), FXTAS (fragile X-associated tremor/ataxia syndrome), and fibromyalgia associated to the FMR1 premutation. Study of the microRNA and mRNA expression profiles as possible susceptibility risk factors for FXTAS.
  3. Detection of cryptic chromosomal imbalances and identification of new phenotypes based on cytogenetic - molecular techniques in a prenatal and postnatal diagnostic setting. The aim is to characterize chromosomal imbalances in fetuses with congenital anomalies and with normal karyotype using arraysCGH.
  4. Study of the genotype-phenotype correlation and expression mechanisms of porphyria. The research lines aim to establish the following:
    • Advance in the study of the alterations in iron regulation and metabolism in skin and erythropoietic porphyria.
    • Investigate the role of modifier genes that modulate the clinical expression of erythropoietic porphyria.
    • Study of new serum and urine biomarkers of acute porphyria severity of use in clinical practice. The group will remain a member of the “European Porphyria Initiative” network as a reference center for the diagnosis, investigation and treatment of porphyria.