Will this study lead to population-wide newborn sequencing?
Today's show: Columbia Professor @WendyKChung on the GUARDIAN Newborn Sequencing Study
https://mendelspod.com/podcasts/update-guardian-newborn-sequencing-study/
#newbornscreening #wholegenomesequencing #genomicmedicine
The future of #NewbornScreening (NBS) is #GenomicSequencing for the early and accurate diagnosis of hundreds of #RareDiseases that if treated early can prevent early mortality & disability.
While the UK will be launching the Newborn Genomes Programme next year, many other countries around the world screen for just a handful of conditions and some others don't even have NBS programs in place. #GenomicEquity
#newbornscreening #genomicsequencing #RareDiseases #GenomicEquity
Happy to participate tomorrow in Advocating for Legislation to Improve Maternal and Child Health Outcomes with Rep #ChrissyHoulahan and Rep #BonnieWatsonColeman #HTAdvocacyDay #Momnibus #NewbornScreening #PREEMIEReauthorization Act #ChildrensHospPhiladelphia #NemoursChildrens #LurieChildrens #MarchOfDimes
#chrissyhoulahan #bonniewatsoncoleman #htadvocacyday #momnibus #newbornscreening #preemiereauthorization #childrenshospphiladelphia #nemourschildrens #luriechildrens #marchofdimes
Happy to participate tomorrow in Advocating for Legislation to Improve Maternal and Child Health Outcomes with Rep #ChrissyHoulahan and Rep #BonnieWatsonColeman #HTAdvocacyDay #Momnibus #NewbornScreening #PREEMIEReauthorization Act
#ChildrensHospPhiladelphia #NemoursChildrens #LurieChildrens #MarchOfDimes
#chrissyhoulahan #bonniewatsoncoleman #htadvocacyday #momnibus #newbornscreening #preemiereauthorization #childrenshospphiladelphia #nemourschildrens #luriechildrens #marchofdimes
#introduction post: I'm a #GeneticCounselor with particular interest in #InbornErrorsOfMetabolism and #NewbornScreening. I think #methylation #mitochondria #science and watching #curling = fun.
I spend a lot of my free time baking things like cakes.
Getting to know this place and appreciated the starship analogy that I saw. Making my home base here on med-mastodon and like to visit genomic.social to get my #genomics fix. 🧬🚲😷🖖🏻
#introduction #geneticcounselor #InbornErrorsOfMetabolism #newbornscreening #methylation #mitochondria #Science #curling #genomics