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28/02/2013

Dr. Mayka Sánchez from the IMPPC talks at VHIR about the early diagnostic in rare diseases of iron metabolism

28/02/2013

Vall d’Hebron is a leading center in the research of rare diseases

Coinciding with the Rare Disease World Day, VHIR has invited Dr. Mayka Sánchez, principal investigator of the Unit for Advanced Genetic Diagnostics for Rare Iron Metabolism Disorders at the Institute of Predictive and Personalized Medicine of Cancer (IMPPC), to give the seminar “Genetic diagnosis of rare iron metabolism disorders: rare anemia and hemochromatosis”. The content of the seminar is available on the video attached and on our channel on Slideshare.The lack of iron and the hemochromatosis are rare diseases that only affect a small percentage of the population, nonetheless, for carriers of the mutation, the disease can be lethal. In this situation, an early diagnostic, through the use of genetic techniques, is crucial to improve the treatment of the patients and their quality and life expectancy. "http://www20.gencat.cat/portal/site/canalsalut/menuitem.8498000bf3fb227d48af8968b0c0e1a0/?http://www.vhir.org/salapremsa/noticies/noticies_detall.asp?Idioma=en&mv1=5&mv2=3&mh1=0&mh2=0&mh3=0&mh4=0&ms=0&any=2012&num=21" Read more about research in rare disorders at VHIR "http://www20.gencat.cat/portal/site/canalsalut/menuitem.8498000bf3fb227d48af8968b0c0e1a0/?http://www.vhir.org/salapremsa/noticies/noticies_detall.asp?Idioma=en&mv1=5&mv2=3&mh1=0&mh2=0&mh3=0&mh4=0&ms=0&any=2012&num=21" In Catalonia nearly 400.000 people suffer one of the 7.000 rare disorders identified. VHIR researchers are aware of this reality: there are more than ten groups studying aspects related to genetic and the new therapeutic approaches in the areas of neurology, pediatrics, immunology, cardiology and hematology.The rare disorders that can be diagnosed at Vall d’Hebron and the rest of Catalan clinical laboratories can be checked in the website "http://www20.gencat.cat/portal/site/canalsalut/menuitem.8498000bf3fb227d48af8968b0c0e1a0/?idCons=2&vgnextoid=88ca70097af8b310VgnVCM1000008d0c1e0aRCRD&vgnextchannel=88ca70097af8b310VgnVCM1000008d0c1e0aRCRD&vgnextfmt=default&input_sel=NomMM&MM=XnomMal&nomMal=pick&codiSnomed=&icd10=&icd9=&codiOrp=&omim=" Canal Salut of the Catalan Health Institution (ICS). In this site there is also a list of patients and it is being developed a map of expert centers in order to improve the attention, the continuous assistance and the integral care of rare diseases. "http://www20.gencat.cat/portal/site/canalsalut/menuitem.8498000bf3fb227d48af8968b0c0e1a0/?http://www.vhir.org/salapremsa/noticies/noticies_detall.asp?Idioma=en&mv1=5&mv2=3&mh1=0&mh2=0&mh3=0&mh4=0&ms=0&any=2012&num=21"

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