Genetics in paediatric respiratory diseases
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
Cell and molecular biology, Epidemiology, General respiratory patient care