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.

Ozlem Goker-Alpan, MD, Founder and CMO of Lysosomal and Rare Disorders Research and Treatment Center #LDRTC discusses newborn screening for lysosomal disorders #CheckRare #RareDisease #LysosomalDisorders #NewbornScreening checkrare.com/newborn-screen…

This super soft sloth is now off to live with little Teddy in Ormond Beach, Florida 🇺🇸 He's got his sunscreen on ready to hit the beach as it's been chucking down cats and dogs here in England most of the week! See you soon Teddy! #FindYourTribe #PompeDisease #NewbornScreening

Nicole Miller, PhD, Vice President of Molecular Diagnostics at Ultragenyx Pharmaceutics, explains the importance of improving newborn screening and the limitations of current processes #CheckRare #RareDisease #NewbornScreening checkrare.com/improving-newb…

What’s going on in the #newbornscreening field? Meredith Wright (Genomics Development Scientist, @RadyGenomics) will be at #FOGBoston discussing BeginNGS, a scalable platform for newborn screening. Register now: hubs.la/Q02spNbf0

A @NASEM_Health committee is seeking input from anyone impacted by, or interested in, U.S. #NewbornScreening to inform a study on strengthening and modernizing these essential programs. Learn more and sign up here: ow.ly/aqVq50QMgmx

A @NASEM_Health committee is seeking input from anyone impacted by, or interested in, U.S. #NewbornScreening to inform a study on strengthening and modernizing these essential programs. Learn more and sign up for email updates here: ow.ly/aqVq50QMgmx #bioethics #equity

Keara Engle writes about feeling overwhelmed with moving house when you have a child with Pompe, as there are so many things to consider #PompeDisease #RareDisease #NewbornScreening pompediseasenews.com/columns/im-ove…

From the IPA, International Pompe Day - Every movement counts #PompeDisease #IPA #RareDisease #NewbornScreening youtu.be/wN7cF4nvN3U?si…

@support_ireland @support_ireland #GetRareAware #NewBornScreening #HeelPrickTesting Both are hugely important and potentially life saving. The very best of luck with this launch and keep us posted. 👍👏👍

During PPMD’s Duchenne Advocacy Day in IL today, President & CEO Pat Furlong addressed a press event, underscoring the progress PPMD has achieved over the past 30 years and emphasizing the critical importance of #newbornscreening and continued research for #Duchenne.

Thank you to everyone who took part in our sloth art show on Pompe Day. Our winners are; Kuriakos Molly Iris Mae McKenzie Josephine Nicola Sandra Jaxen Mattia Evie A snuggle of Ty beanie Molasses sloths are on their way 🦥 #PompeDisease #PompeDay #NewBornScreening

PPMD’s state Advocacy Day in IL is here! PPMD advocates are in Springfield, IL today championing legislation for #newbornscreening, mandatory protocols and best practices for providing medical guidance for Duchenne, and #Duchenne Muscular Dystrophy Awareness Day.

BABY SCREENED @ BIRTH? Baby may appear ok, serious medical conditions may occur. Even if no previous history, w/newborn screening, issues can be caught before serious consequences #newbornscreening 👣 bit.ly/3QbpG9U bit.ly/49zR5gf bit.ly/3wJ3JuK

On March 24th, Barb Ballard spoke to The NASEM's Committee for Newborn Screening to provide a perspective on the process for adding new conditions to the RUSP. See the recording on Vimeo at vimeo.com/930064869 #SCID #SCIDNewbornScreening #SCIDangels #NBS #newbornscreening

It was my honor and privilege to have this platform to share my thoughts about #newbornscreening at our @SIMDtweets #SIMD2024 meeting. @RareDiseases @UMNPeds @mhfvpediatrics

Organic Acidemia Asn @OrganicAcidemia

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It was my honor and privilege to have this platform to share my thoughts about #newbornscreening at our @SIMDtweets #SIMD2024 meeting. @RareDiseases @UMNPeds @mhfvpediatrics

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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

For more than a decade, PPMD has been at the forefront of advocating for #Duchenne #newbornscreening. In 2023, we expanded our ongoing work in the space by conducting a parent survey to build evidence and understanding of the benefits of newborn screening for Duchenne.

Great presentation on #newbornscreening by @BerryS730 from @UMNPeds #Simd2024