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Projects. Life and Earth Sciences

The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms

Lead Researcher:
Guillermo Antiñolo Gil

Research Centre:
Hospital Universitario Virgen del Rocío. Sevilla.

Synopsis: 

Guillermo Antiñolo GilHereditary Dystrophies of the Retina (HDR) are extraordinarily complex and genetically heterogeneous pathologies. Despite the intense efforts made to map them over the past two decades, the mutations detectable in known genes only explain a relatively small percentage of cases. Therefore, many HDR genes have yet to be identified, as well as mutations in regions not usually analysed. During this year work has been undertaken towards objectives 1 and 2, as described in detail in the report accompanying the application. To date, the families to be included within the cohort have been clinically evaluated and selected. Priority has been given to the study of families affected by recessive autosomal retinitis pigmentosa (RPar) in which the underlying genetic cause has not been detected by the techniques used to date. Analysis of these families took place following version 1.0 of the Medical Genome Project protocol for the selective recruitment of exomes and subsequent massive sequencing using the SOLiD 5500xl platform. The reading from these sequencers were aligned against the hg19 human reference genome. Variants were identified using GATK (Genome Analysis Toolkit) software. Secondary analysis was undertaken by following two complementary approaches: VAAST (Variant Annotation, Analysis and Selection Tool) and a tool developed at the Prince Felipe Research Centre (CIPF, Valencia). 7 families have been analysed to date, with a total of 28 individuals. Subsequent biocomputation analysis has resulted in the identification of different candidate genes. Work is currently taking place to validate these genes and their possible involvement in RPar. To summarise, the search for new mutational events using new technologies will make it possible to advance in the study of the molecular bases of DHR, offering new expectations for their treatment.

 

Scientific production
1 article published in Journals
3 papers at national conferences


Guillermo Antiñolo Gil

  • Degree in Medicine and Surgery, the University of Navarre.
  • Doctorate in Medicine and Surgery, the University of Seville.
  • Tenured Professor of Obstetrics and Gynaecology in the Faculty of Medicine, University of Seville.
  • Head of the Obstetrics and Gynaecology Department.
  • Director of the Clinical Management Unit of Genetics, Reproduction and Foetal Medicine, Virgen del Rocío University Hospital, Seville.
  • Scientific Co-ordinator of the Genetic Medicine Research Programme in the Centre for Networked Biomedical Research into Rare Diseases (CIBERER), King Charles III Health Institute.
  • Member of the Steering Committee of the Genetic Medicine Research Programme in the Centre for Networked Biomedical Research into Rare Diseases (CIBERER), King Charles III Health Institute.
  • Scientific Director of the Medical Genome Project (MGP).
  • Director of the Genetics Plan of Andalusia. The Andalusian Regional Government's Health Department.
  • Director of the Andalusian Programme for Screening Congenital Anomalies, the Andalusian Regional Government's Health Department.
  • Director of the Clinical Genetics and Genomic Medicine Programme of the Andalusian Initiative in Advanced Therapies, the Andalusian Regional Government's Health Department.
  • Spokesman of the National Commission for Assisted Human Reproduction. The Ministry of Health and Social Policy.
  • Main lines of research: Hereditary degeneration of the retina, disturbances in the development of the enteric nervous system and thyroid cancer, cellular therapy, foetal medicine and therapy.
  • 56 research projects with competitive funding, 38 as the Principal Investigator.
  • 170 scientific articles in national and international journals.
  • 60 papers and lectures as an invited speaker at national and international conferences.
  • 2 patents in collaboration with the Engineering School of the University of Seville and the Neurosurgery Department of the Virgen del Rocío University Hospital.
  • Awarded the Plaque of the Civil Health Order, Ministry of Health, 2008.
  • Medal of Andalusia, 2009.
  • National Research Prize "APMIB Tutelary Foundation", 1998.
  • Gold CANF prize, 2006.
  • Andalusia prize for Action in Defence of Children's Rights. Department of Equality and Social Welfare, 2007.
  • Diario Médico prize for the best ideas. Virgen del Rocío Hospital. Diario Médico, 2007
  • Malaga Spina Bifida Society prize, 2007
  • Plaza de España prize for constitutional values, 2008
  • Gold FAAM Award in the Research category, 2008.
  • AEEPP Science and Technology prize, 2009.


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