Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Supervisors info:
Ελένη Φρυσίρα, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ, Επιβλέπουσα
Μαρία Τζέτη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ιωάννα Traeger- Συνοδινού, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
WES και καρδιαγγειακά νοσήματα ( Marfan / Marfan -Like )
Translated title:
WES and cardiovascular deseases ( Marfan / Marfan -Like )
Summary:
The completion of The Human Genome Project in 2003, and the human genome deciphering by the original method of sequencing, was a revolutionary event in the field of medical and biology sciences. It was a very expensive and time consuming program since it costed thousands of dollars and took over 13 years to complete. Since 2004 the need for rapid, high-throughput and cost-effective approaches, brought to next generation sequencing technologies NGS, to fulfill medical demands.The next generation sequencing technologies enabled massively parallel sequencing of the entire genome and identified genetic variants as pathogenic cause of diseases. WES enables high-throughput sequencing of the coding regions of genome and these technologies are successfully used in the clinical laboratories for the identification of monogenic and multifactorial diseases. The use of WES has the potential to revolutionize the way we practice medicine by providing personalized genetic information, valuable tool for clinical diagnosis ,risk stratification and management of inherited cardiovascular diseases. In Marfan Syndrome, one of the most common inherited disorders affecting the connective tissue, cardiovascular complication and mostly ascending aorta aneurysm and dissection, is primarily the cause of decreased life expectancy. Marfan-Like diseases with overlapping phenotype but different pathogenic causative variant, may show different involvement of the cardiovascular system, ranging from trivial changes to most insidious, as vascular type of Ehlers-Danlos.
In the present study ,12 patients diagnosed suffering from Marfan Syndrome or Marfan -Like diseases, have been registrated from the archives of Medical Genetics section of the University of Athens. Their clinical and demographic data were reviewed from their medical files. All of them were referred to molecular analysis by a physician ,due to marfanoid phenotype or after a major cardiovascular lethal event had occurred in the family.
The patients had their DNA sequenced by the Next Generation Sequencing NGS technologies WES or CES and in some cases, MLPA for identification of deletion / duplication, was used.
The frequency of abnormalities in our cohort and genotype -phenotype correlation by the means of WES, was analogous to the internationally reported.
Main subject category:
Health Sciences
Keywords:
Next Generation Sequencing, Whole Exome Sequencing, Marfan Syndrome, Marfan -Like disease
File:
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Grentzelou Sofia master.pdf
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File access is restricted only to the intranet of UoA.
