Airway diseases
Interstitial lung diseases
Paediatric respiratory diseases
Mini symposium
Genetics in paediatric respiratory diseases
Translational
Genetic heterogeneity underlies phenotype and therapeutic approaches
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.
Target audience :
Adult pulmonologist/Clinician, Clinical researcher, Medical Student, Nurse, Respiratory critical care physician, Paediatrician, Pathologist, Patient, Physician in Pulmonary Training, Respiratory physiotherapist, Scientist (basic, translational), Thoracic oncologist, Respiratory therapist
Methods :
Cell and molecular biology, Epidemiology, General respiratory patient care
13:45
Patient's perspective
R. De Backker(Vosselaar, Belgium)
COI
1
4820
13:50
Basics of genetic diagnostics
M. Legendre(Paris, France)
COI
-
Description
2
4821
14:05
Surfactant disorders: from neonatal respiratory distress to cancer predisposition
L. Nogee(Baltimore, United States)
COI
-
Description
3
4822
14:20
Models for ciliated airway epithelial cells and personalised medicine
A. Berical(Boston, United States)
COI
-
Description
4
4823
14:35
Discussion and Q&A
5
4824
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