Be the first to like this
The Primary Ciliary Dyskinesia (PCD) Foundation, The Childrens Interstitial Lung Disease (chILD) Foundation and Genetic Diseases of Mucociliary Clearance Consortium (GDMCC) put together an interactive session for neonatologists, geneticists, pulmonologists, pathologists, pediatricians and other pediatric sub specialists to discuss the potential for biobanking genetic material in cases of unexplained or unexpected death in childhood that may be related to unidentified, rare or genetic disorders.
These issues affect our PCD, ILD and Cystic Fibrosis patient communities, but clearly have broader implications for the rare and genetic disease communities at large.
1. Statistics change the game! Knowing what disease played a role can change the conversation about a genetic disease (i.e. newborn PCD case - Conor McGuire).
2. Biobanking can open many doors. Biobanking can unlock many doors to help families plan/get answers as well as improve our understanding of the individual and/or disease; thereby, changing the future (i.e. earlier treatment).
3. Family: Family planning; Closure for family
Based on the input from this meeting and further discussions, our goal is to create a prototype in the near future that will serve as a national model.