Newborn screening refers to testing newborns for rare genetic or metabolic conditions. The introduction of genome sequencing into newborn screening has the potential to improve health outcomes for newborns with genetic conditions.
#newbornscreening #genomics

20 años mejorando el pronóstico de la #anemiafalciforme con el #cribadoneonatal de los recién nacidos 🦶en #Madrid . 20 years of #sickle #newbornscreening

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

World Journal of Pediatrics #newbornscreening #pediatrics #genetics #China #monogenicgeneticdiseases #Sequencing #Meded #medx #MedicalNews

link.springer.com/article/10.100…

Proud of Goa Medical College's free newborn screening for genetic disorders, promoting early intervention and healthier futures. #TheGoaModel #HealthcareInitiatives #NewbornScreening #GeneticDisorders

Protecting Goa's youngest! Newborn screening initiative checks 53,767 infants for 5 diseases, 46 disorders within 72 hours, emphasizing early intervention for their well-being. #NewbornHealth #GoaHealth #TheGoaModel
#NewbornScreening #InfantHealth #ChildWellBeing

Goa Medical College leads the way with free newborn screening for genetic disorders. Empowering parents with genetic counselling, Goa’s Health Department is forging healthier future. #HealthcareForAll #GeneticScreening #TheGoaModel
#GoaMedicalCollege #NewbornScreening

11 seconds.. #podcast #newbornscreening #realtalk

Leading up to #RareDiseaseDay , we’re talking about the importance of #newbornscreening for rare genetic diseases. We support the inclusion of Duchenne in existing #NBS programs so that that all patients have the chance to benefit from early diagnosis and treatment.

In this new publication, Betzler et al take a look at the list of proposed gene lists that different genomic screening pilots have chosen to see what has been chosen and why. Could a consensus on gene targets ever be reached?

doi.org/10.1002/jimd.1…

#newbornscreening #WGS #WES

“Newborn screening is a system, not an event”. Captivating talk about the future of #newbornscreening by Susan Berry at SIMD Presidential seminar. Also here STFU = short term follow up. 😂 🧠 🚼 🦶 🧬

🌟New advancements in newborn screening are transforming the detection and management of rare genetic disorders early in life.
📌Comprehensive screening covers more genetic and metabolic conditions; early intervention improves health outcomes.
#NewbornScreening #EarlyIntervention

At #WorldOrphanUSA , our CEO, Dr. Emil Kakkis, will take the stage to deliver a keynote presentation on using biomarkers for #RareDiseases . Nicole Miller, VP of Molecular Diagnostics, will also take part in a panel on #NewbornScreening and the future for rare disease. More below.

#PedsHemeOnc Education Galore! What is Dr. Maa-Ohui Quarmyne from Phoenix Children's excited for? Learn about her presentation #Thalassemia in Transition, Saturday April 6 at #ASPHO2024 . #StandardsofCare #NewbornScreening #NovelTherapies #PHODocs
Register here: ow.ly/a6LN50QI39f

Today, June 19 is World Sickle Cell Day. This year GASCDO is moving with one Global Voice with our themes. One Movemnet, One Global Voice. We also wish all sickle cell warriors a big Happy World Sicklecell Day! We salute you! #KnowYourSCDstatus
#NewBornScreening
#GASCDO
#WSCD

Breaking News 🚨 the Czech Republic has initiated #NewbornScreening for #SCID ! This wonderful news brings us closer to our goal of SCID screening worldwide. Early diagnosis saves lives! Find out if your country is on the list: bit.ly/41IDYpV

Breaking News 🚨 Victoria has joined the list of territories in Australia that will be participating in #NewbornScreening for #SCID ! This news brings us closer to our goal of SCID screening worldwide! Find out if your country is on the list: bit.ly/41IDYpV

Let MakatiMed Pediatricians guide you in taking care of your kids right from their early days!

For more information about our Pediatric Screening Services, you may call (+632) 8888 8999 or send an email to [email protected]

#BabyHealth
#NewbornScreening
#MakatiMedAlwaysSafe

Breaking News 🚨 Ireland has initiated #NewbornScreening for #SCID ! This means that newborns in Ireland will undergo identification, diagnosis, and treatment, providing them with a crucial chance for survival. Find out if your country is on the list: bit.ly/41IDYpV

Stay up-to-date on #NewbornScreening progress for #Duchenne #MuscularDystrophy ( #DMD ) and hear from experts Paul Melmeyer, MDA, Lauren Stanford, Parent Project Muscular Dystrophy (PPMD), Annie Kennedy, EveryLife Foundation, and Jill Anne Castle, M.Ed, Little Hercules Fdn. Watch here: youtube.com/watch?v=UJL1d4…

🗣️ We provided 6,000+ people living with a rare disease the opportunity to voice their opinions on 🧬 #NewbornScreening , and the results of the Rare Barometer survey are now available!

Explore the insightful and highly motivating findings
🔎lnkd.in/dqXVPC88

#Screen4Care