Advocacy
Children with Chronic Conditions
Clinical Bioethics
Developmental Biology
Genomics/Epigenomics
Global Neonatal & Children's Health
Health Equity/Social Determinants of Health
Trainee
Eleanor Molloy, MB PhD FRCPI (she/her/hers)
Chair and Professor of Paediatrics
Trinity College Dublin , Paediatrics And Child Health
dublin, Dublin, Ireland
Session Description:
The past several decades have seen the rapid development of medical genomic science including clinical exome sequencing (ES) for molecular diagnosis, by genomic approaches for understanding the genetic basis of complex traits and diseases, and by progress in understanding genotype-phenotype relationships. These advancements have led to gene disorders undergoing gene therapies where new DNA is added to certain cells, or DNA is repaired. It has also led to therapy outside of gene replacement, such as the CFTR modulars for cystic fibrosis (Trikafta), hydroxyurea for sickle cell disease or hereditary amyloidosis (tafamidis). Epigenetic manipulation has also been found useful, such as reactivating the gene for fetal hemoglobin in patients with sickle cell disease with histone acetylase inhibitors. This symposium will pull together recent information on four facets of genomics in pediatrics from bench to bedside and beyond! The four topics to be covered are: advancements in sickle cell therapies, universal newborn screening using genome sequencing, advancing fetal diagnosis and prognostication through prenatal genetic testing, and the genetic basis of severe and recurrent Herpes Simplex infections in infants and children.
Speaker: Olivier Fortin, MD (he/him/his) – Montreal Children’s Hospitaal
Speaker: Stella Kourembanas, MD – Harvard Medical School and Boston Children's Hospital
Speaker: Wendy K. Chung, MD PhD – Boston Children's Hospital
Speaker: Patrick McGann, MD PhD (he/him/his) – Alpert Medical School of Brown University
Speaker: Venkatesh Sampath, MD, MRCPh – University of Missouri-Kansas City School of Medicine
