Chair(s): Nicole Beydon, Sinthia Bosnic-Anticevich
Session type: Mini symposium
Robinne De Backker
Session content
Patient's perspective
Robinne De Backker
Replay
Marie Legendre
Replay
Slides
Lawrence Mark Nogee
Replay
Slides
Andrew Berical
Replay
Slides
Replay
Session aims
to present the main process and challenges of genetic data interpretation; to list the main genetic diagnostic tools and their limitations; to provide the audience with key tips to read a genetic report. to discuss importance of genotyping for three model monogenic diseases that can affect newborns or occur later in life (cystic fibrosis, surfactant disorders and primary ciliary dyskinesia): to illustrate the phenotype-genotype correlation diversity and gene/mutation(s) distinct consequences at the cell level; to explain the consequences of molecular diagnosis on vital prognosis at birth, follow-up, lung cancer risk later in life and genetic counselling; to explain how genotypes connect with current personalised treatments and their development.