The course aims to assist future medical specialist recognize the necessity of linking medical genetics with other clinical specialties for the management, diagnostic investigation, follow-up, but also targeted treatment of the patient with a genetic disorder.
The students will become familiar with online available sources for data mining on genetic/genomic databases curating information on rare and common genetic disorders.
Upon course completion, the students will have learned to recognize genetic syndromes and inherited disorders with a strong genetic component and will be familiar with the use of contemporary laboratory protocols for genetic screening.
Course Content (Syllabus)
The syllabus covers the contemporary approaches of genetic analyses required for a thorough diagnosis of genetic disorders in modern practice, with a particular focus on the clinical signs and the pathogenesis of genetic syndromes, towards a more accurate diagnosis.
The course participants become familiar with the theory of genetic disorders as well as the recognition of early onset clinical manifestations per system, so that a disorder with an underlying genetic basis can be recognized on a timely manner and the patient be referred to the proper clinical specialist in order for the family to be provided with genetic counseling.
The students attend lectures on interesting case reports for specific genetic disorders, coupled with guidelines on proper thinking for performing accurate clinical diagnosis to be followed by genetic counseling and carrier screening measures.
The course participants become familiar with state-of-the-art prenatal genetic diagnosis methods, as well as the reproductive options available to families with a genetic disorder burden.
In addition, the students receive information on online genetic/genomic databases available curating information on rare and common genetic syndromes.
Lastly, the course covers bioethics issues related to the accumulation of genetic information of individuals.
Clinical genetics, inheritance, genome, DNA, genetic counseling, genetic variations, genetic syndrome
Course Bibliography (Eudoxus)
Σύγχρονη Κλινική Γενετική. Συγγραφείς: Read Andrew, Donnai Read, Ιατρικές Εκδόσεις Πασχαλίδη-Broken Hill Publishers LTD, 1η έκδοση, Αθήνα, 2010
Κωδικός βιβλίου στον "Εύδοξο" : 13256767