The Scottish Government have launched a newborn screening programme for spinal muscular atrophy, aimed at enabling earlier diagnosis and access to potentially life-changing treatment.
Read more for FREE in BioNews ⬇️
www.progress.org.uk/scotland-int...
#SMA #NewbornScreening
"The Alabama Newborn Screening Program ensures that state laws, rules, and regulations mandating newborn screening are followed. "
#NewbornScreening
www.alabamapublichealth.gov/newbornscree...
Congrats to @hadleyssmith.bsky.social, Ellen Kim and Ramesh Lamsal for presenting their posters at the American College of Medical Genetics and Genomics!
#genetics #posterpresentation #pediatric #genomic #newbornscreening #dna
🏆 Scotland has become the first country in the UK to roll out newborn screening for Spinal Muscular Atrophy (SMA) — a major step forward in early diagnosis and treatment.
#CIL #cilmkt #ukisotope #NewbornScreening #SMA #SMAUK #SpinalMuscularAtrophy #SMAAwareness #HealthcareInnovation #Diagnostics
Scotland becomes first part of UK to screen newborns for spinal muscular atrophy #Science #HealthandMedicine #Genetics #NewbornScreening #SpinalMuscularAtrophy #PublicHealth
www.theguardian.com/uk-news/2026/mar/23/scot...
#MDAConference: Although a newborn screening program exists in every US state, many ethical concerns raised by them remain unresolved, experts said at the 2026 @mda.org Clinical and Scientific Conference.
Learn more: https://bit.ly/3P4wUSn
#RareDisease #NewbornScreening
A blue slide announcing “New White Paper Update – Spanish Translation.” The “All Together. One Goal.” stamp appears below the headline. SMA Europe's 20 Years Together logo is positioned in the top left corner, with the NBSA logo displayed to the right.
A blue colour slide featuring the SMA Europe logo, #WeAreOne and #SpinalMuscularAtrophy hashtags, and the SMA Europe website link: www.sma-europe.eu.
📢 The SMA Newborn Screening Alliance is excited to share that the updated White Paper on Newborn Screening for SMA is now available in Spanish. You can access it here: https://www.sma-screening-alliance.org/resources
We extend our sincere thanks to @FUNDAME.
#SMAAwareness #NewbornScreening #SMA
#NewbornScreening has long been one of #PublicHealth's most powerful tools for catching rare conditions before they cause harm. But #WholeGenomeSequencing is rewriting what's possible.
Read what it will take to do genomic newborn screening right: tinyurl.com/42s3acyp
#RareDiseaseDay
Our CEO, Sara, attended the reception yesterday. She discussed issues surrounding UK Newborn Screening with Ashley Dalton, Parliamentary Under-Secretary Department of Health and Social Care and, Nick Meade, CEO of Genetic Alliance
#AlexTLC #RareDiseaseDay #NewbornScreening
Phenylketonuria (PKU)
#Phenylketonuria #PKU #MetabolicDisorder #AutosomalRecessive #GeneticDisorder #iPrkashMishra #NewbornScreening #GuthrieTest #Hyperphenylalaninemia #PediatricHealth #LowProteinDiet #Sapropterin #MaternalPKU #MedicalEducation #NursingNotes
Managing non-SCID T cell lymphopenia after TREC-based #NewbornScreening. New study from Annelotte J. Duintjer, Maartje Blom @unileiden.bsky.social and colleagues: rupress.org/jhi/article/...
#TCellDeficiencies #Diagnostics; #SevereImmunodeficiencies #SCID
@esidsociety.bsky.social
VUS ≠ surveillance.
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD
We will continue to work towards MLD and ALD being added to the list of conditions screened for at birth 💙 We will do this by attending relevant meetings and presenting to share our voice about the important of NBS: alextlc.org/news/mld-newborn-screeni...
#NewbornScreening #MLD
BEACONS leading investigators have announced two major milestones in an NIH-funded research effort to evaluate genomic newborn screening
To find out more: rarerevolutionmagazine.com/beacons-selects-seven-si...
#NewbornScreening
On 23–25 Jan, SMA Europe joined the 292nd ENMC Workshop. We thank ENMC for this meaningful event. Read the report here: www.enmc.org/download/best-practices-...
#SMA #NewbornScreening #WeAreOne
In @jhumimmunity.org, Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/...
#Immunodeficiencies
Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/...
#Diagnostics #Immunodeficiencies
Today our Director of Support, Karen, is attending the SHCA quarterly meeting
Dr Graham Shortland, Vice Chair of the National Screening Committee, will discuss his involvement in new UK-wide newborn blood spot screening programmes and future of UK newborn screening 👣
#NewbornScreening #ScreenOurBoys
There's still time to register for the #APHL #HIT webinar series on Feb. 5 and see our #NewbornScreening Case Management platform in action.
We'll walk through a #CysticFibrosis case -- from initial screening through follow-up.
Register here and select Feb. 5 to join: lnkd.in/exXe4UFc
See our #NewbornScreening Case Management in action Feb. 5!
Join the #APHL #HIT webinar series and watch the our team showcase the full lifecycle of an NBS #CysticFibrosis case from initial screening through follow-up.
📅 Feb. 5 - 12 PM PT
Register here - select Feb. 5: tinyurl.com/2npfyr27
Update from the Generation Study 👣
A key focus for 2026 will be advancing their commitment to equitable recruitment
ALD and MLD are one of the 200+ conditions being tested for 💙
To find out more about the project: https://www.generationstudy.co.uk/
#NewbornScreening #RareDisease #Leukodystrophy
Earlier ERT = better hearts 🫀
In infantile-onset Pompe disease, starting ERT ≤1 month leads to faster LVMI normalisation and improved cardiac remodelling.
Another strong case for newborn screening and rapid treatment.
🔗 doi.org/10.1002/jmd2...
#PompeDisease #IMD #NewbornScreening
Tyrosine metabolism dysregulation is a potential early feature of #WilsonDisease, and the identified metabolites show high diagnostic potential as promising biomarkers for #NewbornScreening. Study in Orphanet Journal of Rare Diseases.
Read here: https://bit.ly/4sWUCiM
#RareDisease #MedSky
Early #enzymereplacementtherapy in infantile-onset #Pompedisease improves survival and motor outcomes, but patients remain at risk for antibody development, highlighting the need for inducing and maintaining immune tolerance. bit.ly/4bQbzoV #GIMO #NewbornScreening
Don't miss tomorrow's #SalivaDirectInc. webinar on “The Power of Saliva: Revolutionizing Congenital CMV #NewbornScreening.”
Hear Dr. Mark Schleiss share ways saliva-based diagnostics can transform early #cCMV detection and improve babies' access to care.
Sign up here: forms.gle/rPSELZauzEbS...
🧬 Newborn Screening for #Duchenne (DMD) is here❗
DMD & MLD were added to the US RUSP—unlocking earlier diagnosis, earlier treatment, and stronger family support 🍼💪
Read more: www.neurologylive.com/view/newborn...
#RareDisease #Neurology #NewbornScreening #Neuromuscular #PublicHealth #GeneticTesting
A fascinating study exploring the early metabolic profile of neonates born to mothers with intrahepatic cholestasis of pregnancy (ICP).
Discover how newborn screening kits (NSKs) were implemented via link.
#CIL #cilmkt #Metabolomics #NewbornScreening #MassSpec
www.ukisotope.com/early-metabo...
Newborn Screening Expands to Include Two Rare Genetic Conditions - www.growingyourbaby.com/newborn-screening-expand... #newbornscreening #infanthealth # DuchenneMuscularDystrophy #metachromaticleukodystrophy
SMA Type 1 can progress fast—but treatment options are changing the story. Learn how early diagnosis and newer therapies, including one-time gene therapy, can make a difference. Have questions? Drop them below. #GeneTherapy #NewbornScreening #SMAType1 #SpinalMuscularAtrophy #Zolgensma
The #WashingtonStateDepartmentOfHeakth #PublicHealthLaboratories #Directorate chose me because they were #Scouting for #Neurodiverse #Women
They #Fired half of the #Department of #NewbornScreening after their #Director tried to get #Sex in exchange for #Permanent #Noncontract positions
