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Prof. Andrea Superti-Furga - "From x-rays to x-omes and beyond: genetic disorders of bone as paradigm in human genetics"

(Leenaards Professor of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois – CHUV)
When Nov 15, 2016
from 12:00 PM to 01:00 PM
Where Tigem Auditorium "Vesuvius"
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Contact Phone +39-081-19230659
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ABSTRACT

In spite of their complicated names and difficult diagnostic approach, genetic disorders of bones (so-called skeletal dysplasias and dysostoses) are paradigmatic for the  progress in medical genetics :

  • Their pathogenesis is highly complex and touches upon basic biological processes such as gene transcription, embryonic morphogenesis, cell differentiation, macromolecular synthesis, matrix formation, lysosomal function, and others :
  • The study of their genetic basis has been highly rewarding and provided milestone examples of concepts such as dominant negative, haploinsufficiency, de novo mutational rate, gonadal and somatic mosaicism, that have had an impact om medical genetics at large ;
  • In the aera of massive parallel sequencing, the intricacies of clinical, radiographic and molecular diagnosis is paradigmatic for the evolution of the field.

The presentation will discuss a few selected examples and deal with the current state of research and diagnosis placing them in a broader context.

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