@cherpdpm.bsky.socialGerman parents expressed strong interest in #genomic #newbornscreening, particularly for actionable conditions. Findings highlight the importance of supporting informed parental choices through clear #communication and decision aids. #GeneticTesting #Research
Read here: buff.ly/1lbx62s
@hlm4rare.bsky.social"Access starts with a proper diagnosis."
The way forward: faster decisions on what goes into newborn screening panels, more discussion on newborn screening, and a rare disease action plan, key for both diagnosis and other therapies.
👉 hlm4rare.eu
@citizenptnewspa.bsky.socialA new resolution designates October 20, 2026, as MCAD Deficiency Awareness Day, shining a light on the critical role of newborn screening in saving lives from this rare metabolic disorder.
Learn more here!
#PA #CitizenPortal #PennsylvaniaNewbornScreening #HealthAwareness #NewbornScreening
@jimd-editors.bsky.social🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
@megadoctornews.comAmerican Academy of Pediatrics Broadens Screening Recommendations for Newborns #AmericanAcademyOfPediatrics #CongenitalCmv #InfantScreening #NewbornScreening #nicu https://megadoctornews.com/american-academy-of-pediatrics-broadens-screening-recommendations-for-newborns/
@885wfdd.bsky.socialState lab will now test for Infantile Krabbe Disease and Guanidinoacetate Methyltransferase Deficiency as part of expanded newborn screening. #WFDD #NewbornScreening #PublicHealth #Krabbe
@gimopenjournal.bsky.socialNewborn screening has transformed child health, but expanding screening panels will require strong evidence, sustained policy support, and continued investment in rare disease research. bit.ly/3UVCxFq #GIMO #NewbornScreening #GenomicNewbornScreening
@erdera.bsky.social👶 September is #NewbornScreening Awareness Month. Across Europe, access to comprehensive newborn screening remains uneven, contributing to avoidable inequalities in diagnosis and care.
Learn more in ERDERA's latest #ScientificPill👉 https://loom.ly/28UA3H8
#RareDiseases #ERDERA #HealthEquity
@immunedeficiency.bsky.socialSeptember is Newborn Screening Awareness Month! #Newbornscreening is an essential #publichealth service that screens babies for serious but treatable medical conditions. #2026NBS
@curegm1.bsky.socialSeptember is Newborn Screening Awareness Month! Early detection for GM1 gangliosidosis gives children the chance for earlier treatment, offering hope & better futures for our GM1 community. #NewbornScreening #EarlyDiagnosis #CureGM1
@jjunebrown.bsky.socialWhat was it like writing + publishing a memoir on my #newbornscreening, rare disease mom journey - from a geneticist's perspective? Painful! And also illuminating, freeing. Because sharing our stories is empowering advocacy. www.youtube.com/watch?v=uF2H... #writingcommunity #Booksky #memoir #Momsky