Jump to resource

Projects. Life and Earth Sciences

Translational Research into rare diseases of iron metabolism using massive parallel sequencing

Lead Researcher:
María del Carmen Sánchez Fernández

Research Centre:
Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona.

Synopsis: 

María del Carmen Sánchez Fernández This research centres on the study of rare diseases in humans associated with iron metabolism, using a combination of clinical and basic criteria to improve translational research in this field.

The specific aims of this project are:


  1. To consolidate a network of doctors for rare iron metabolism diseases, with the aim of recruiting patients with these rare pathologies.
  2. To establish molecular screening for gene mutations known to be involved in rare iron metabolism diseases.
  3. To identify new human genes involved in rare iron metabolism diseases using exome sequencing by specific capture and massive parallel sequencing (MPS).
  4. To characterise in functional terms new genes causing rare iron metabolism diseases and new mutations found in genes that have already been described.

Results:

  1. The Grupo Ibérico de Ferropatología (GIF, Iberian Iron Pathology Group) was recently created. The number of professionals in this network has now increased and it currently contains 90 medical specialists in 53 Spanish and Portuguese hospitals and centres. The network has been updated and major reforms have taken place to make it easier to keep its content up-to-date. The GIF web site: http://www.imppc.org/gif/web/
  2. To establish molecular screening for genes known to be involved in rare iron metabolism diseases. The mutational screening for 19 genes involved in rare iron metabolism diseases has been established. In 3 of these genes Sanger sequencing is being optimised, as there are regions which are very difficult to sequence based on their DNA, and this may be due to a high CG content or the presence of homologous sequences within the genome.
  3. To identify new human genes involved in rare iron metabolism diseases using exome sequencing by specific capture and massive parallel sequencing (MPS). In a small subgroup of well-characterised patients in whom no genetic cause was identified using the approach described in point 2, the whole exome is being sequenced by massive parallel sequencing (MPS) using an Illumina sequencer. There are currently 4 patients in the process of undertaking exome-MPS, and moreover the experimental part has been completed for an additional patient. The next step will be to carry out the initial biocomputation analyses.
  4. To characterise in functional terms new genes causing rare iron metabolism diseases and new mutations found in genes that have already been described. A study has been completed of 2 new mutations found in the ferritine L gene (zone of the IRE in the 5' UTR) which causes the Hereditary Hyperferritinaemia Syndrome with cataracts in two families (one Spanish and one German).

 

Scientific production
1 article published in Journals
1 paper at national conferences
2 papers at international conferences

Researcher's web address:

 http://tinyurl.com/Sanchez-lab-IMPPC



María del Carmen Sánchez Fernández

Dr. María del Carmen Sánchez studied Hereditary Haemochromatosis for her doctorate in the University of Barcelona and the "Clínic" Hospital in Barcelona (Genetics Department), under the supervision of Dr. Rafael Oliva (March 2002). From 2002 to 2009, she undertook her post-doctoral studies in 3 prestigious research centres in Germany (European Molecular Biology Laboratory (EMBL), University of Heidelberg and the Molecular Medicine Partnership Unit (MMPU)) under the supervision of Dr. Matthias W. Hentze and Dr. Martina U. Muckenthaler. From November, 2009, Dr. Sánchez is Junior Principal Investigator and Head of the Advanced Genetic Diagnostic Unit for Iron Metabolism Disorders (UDGAEMH) at the Institute for Predictive and Personalized Cancer Medicine (IMPPC), Badalona, Spain.

Dr. Sánchez has published a total of 20 peer-reviewed papers (11 of them as the lead author, and one as senior author), 2 chapters in specialised books and 5 educational publications for medical professionals and scientists. The importance of these publications is reflected by the large number of times they have been cited (356 citations, Web of Knowledge, November 2011). Dr. Sánchez's h index stands at 9 (WOK, November, 2011). Dr. Sánchez has taken part in 33 congresses and meetings (of which a majority, 24 out of 33, were international conferences) with 19 posters, 8 oral presentations, 9 invited talks, 2 as session co-ordinator and 2 as a conference. Dr. Sánchez is a member of 8 national and international scientific societies, as well as 2 patient associations, and she is a regular reviewer for 4 international scientific journals (Haematologica, PLoS One, Human Mutation and RNA Biology). The group of Dr. Sánchez has 3 national research projects/contracts (PS09/00341, CA10/01114, RYC-2008-02.352), one European Research Project on Rare Diseases (ERARE‑115), and she was selected for the Young Researchers Programme of the CONSOLIDER-INGENIO RNAREG Consortium, co-ordinated by Dr. Juan Valcárcel (ICREA, CRG).


*All intellectual property rights belong to the author. Reproduction of all or part of the work without permission from the author is prohibited.
© RAMÓN ARECES FOUNDATION. All rights reserved. 


Síguenos en

  • Twitter
  • Facebook
  • Flickr
  • Youtube
  • Slideshare

© 2007 Fundación Ramón Areces All rights reserved.

c/ Vitruvio, 5. 28006 Madrid (España) | Telephone: 91 515 89 82 | C.I.F.: G-28459311