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Projects. Life and Matter Sciences

Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain

Lead Researcher:
Ana Vega Gliemmo

Research Centre:
Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela.


Ana Vega GliemmoThe overall aim of this project is to identify all Spanish patients with congenital autosomal recessive icthyosis (ICAR), as well as to characterise them clinically and genetically. The project started in June, 2012. During these months, the group has concentrated on publicising the project with the objective of identifying the Spanish patients involved, including them in the protocol and studying a new gene associated with the disease (PNPLA1).


  • On June 22nd, the project was presented at the 1st Conference of Experts on Icthyosis ("Niño Jesús" Hospital in Madrid).
  • Contact was made with the Spanish Icthyosis Association (Asociación Española de Ictiosis (ASIC), http://www.ictiosis.org/home/home.htm). The project was presented at its 5th Work Session (State Reference Centre for People with Rare Diseases and their Relatives, Burgos, December 6th‑9th, 2012).
  • The study was communicated to the Spanish Academy for Dermatology and Venereal Disease, which distributed to the information on October 25th, 2012, to all Spanish dermatologists in the Academy's monthly bulletin (Info AEDV nº 51).


  • The extraction and sending of samples to the co-ordinating centre has been included in the protocol.
  • The extraction and storage of DNA has been included in the protocol.
  • The sample collection has been registered with the King Charles III Institute (registration nº C.0001349).

Genes associated with ICAR in the Spanish population:

A new gene, PNPLA1, was recently identified as causing ICAR (Grall et al., 2012). This gene was studied in the families of Galician patients without mutations in the TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and ABCA12 genes. One of these families presents an alteration in the homozygosis of this gene. A sample has been requested from the brothers of the patient (healthy and affected) to discover the involvement of the variant of the disease that has been identified.

Ana Vega Gliemmo

A graduate in Pharmacy from the University of Compostela, she obtained her Doctorate with the maximum marks in the year 2000, with a work on genetic susceptibility to cancer. She is an associate of the Galician Public Foundation for Genomic Medicine, a reference centre for genetic analysis in Galicia since 2005, where she is head of the area of hereditary breast and ovarian cancer, other rare syndromes causing predisposition to cancer, and dermatological syndromes. Her health-care activity is the origin of the majority of the lines of research she works in, all of which focus on advancing knowledge of these diseases.

She is co-ordinator of the Cancer Genetics Group of the Health Research Institute in Santiago de Compostela (IDIS, accredited by the King Charles III Health Institute) and of personnel belonging to the CIBER for Rare Diseases (CIBERER).

She is the author of more than 60 papers in high-impact journals, working on more than 25 research projects, as the Principal Investigator in ten of them. She has been awarded several research prizes, among which the AEGH Prize for the best career by a young researcher stands out. She is currently directing several doctoral theses. Thus, for example, she recently directed a doctoral thesis on the Clinical and Genetic Study of Autosomal Recessive Icthyoses in Galicia, closely connected with the project that the work of this request for grants to the Ramón Areces Foundation will centre on.

She plays an active role in several National and International Research Consortia, among which the following stand out: ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles), PRACTICAL (Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome) and the RADIOGENOMIC CONSORTIUM, in which she is the Spanish representative.

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