๐๐ฎ๐ง๐ ๐๐๐ญ๐ก - ๐๐ง๐ญ๐๐ซ๐ง๐๐ญ๐ข๐จ๐ง๐๐ฅ ๐๐๐จ๐ง๐๐ญ๐๐ฅ ๐๐๐ซ๐๐๐ง๐ข๐ง๐ ๐๐๐ฒ ๐ถ๐ป๐งฌ Over the past 60 years, newborn screening has diagnosed and treated millions of babies with genetic diseases, saving and improving lives. However, less than a third of newborns are screened each year globally. Today, we celebrate the life-changing benefits of early disease detection and the opportunities it offers for timely treatment. ๐ ๐๐ก๐ฒ ๐ข๐ฌ ๐ง๐๐จ๐ง๐๐ญ๐๐ฅ ๐ฌ๐๐ซ๐๐๐ง๐ข๐ง๐ ๐ข๐ฆ๐ฉ๐จ๐ซ๐ญ๐๐ง๐ญ? - Early detection of serious but treatable conditions. - Timely intervention to improve long-term outcomes. - Enhanced quality of life for children and families. At Sebia, we are dedicated to providing accurate diagnostic solutions for genetic diseasesโคต๏ธ https://lnkd.in/e2HxQyCb Together, we can ensure a healthy future for every newborn ๐ฃ Let us continue to support and advocate to ensure that all children have access to newborn screening. #NewbornScreening #INSD #NeonatalScreeningMatters #InternationalNeonatalScreeningDay #Sebia
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๐๐ฎ๐ง๐ ๐๐๐ญ๐ก - ๐๐ง๐ญ๐๐ซ๐ง๐๐ญ๐ข๐จ๐ง๐๐ฅ ๐๐๐จ๐ง๐๐ญ๐๐ฅ ๐๐๐ซ๐๐๐ง๐ข๐ง๐ ๐๐๐ฒ ๐ถ๐ป๐งฌ Over the past 60 years, newborn screening has diagnosed and treated millions of babies with genetic diseases, saving and improving lives. However, less than a third of newborns are screened each year globally. Today, we celebrate the life-changing benefits of early disease detection and the opportunities it offers for timely treatment. ๐ ๐๐ก๐ฒ ๐ข๐ฌ ๐ง๐๐จ๐ง๐๐ญ๐๐ฅ ๐ฌ๐๐ซ๐๐๐ง๐ข๐ง๐ ๐ข๐ฆ๐ฉ๐จ๐ซ๐ญ๐๐ง๐ญ? - Early detection of serious but treatable conditions. - Timely intervention to improve long-term outcomes. - Enhanced quality of life for children and families. At Sebia, we are dedicated to providing accurate diagnostic solutions for genetic diseasesโคต๏ธ https://lnkd.in/gju77m-f Together, we can ensure a healthy future for every newborn ๐ฃ Let us continue to support and advocate to ensure that all children have access to newborn screening. #NewbornScreening #INSD #NeonatalScreeningMatters #InternationalNeonatalScreeningDay #Sebia
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๐๐ฎ๐ง๐ ๐๐๐ญ๐ก - ๐๐ง๐ญ๐๐ซ๐ง๐๐ญ๐ข๐จ๐ง๐๐ฅ ๐๐๐จ๐ง๐๐ญ๐๐ฅ ๐๐๐ซ๐๐๐ง๐ข๐ง๐ ๐๐๐ฒ ๐ถ๐ป๐งฌ Over the past 60 years, newborn screening has diagnosed and treated millions of babies with genetic diseases, saving and improving lives. However, less than a third of newborns are screened each year globally. ย Today, we celebrate the life-changing benefits of early disease detection and the opportunities it offers for timely treatment. ย ๐ ๐๐ก๐ฒ ๐ข๐ฌ ๐ง๐๐จ๐ง๐๐ญ๐๐ฅ ๐ฌ๐๐ซ๐๐๐ง๐ข๐ง๐ ๐ข๐ฆ๐ฉ๐จ๐ซ๐ญ๐๐ง๐ญ?ย - Early detection of serious but treatable conditions. - Timely intervention to improve long-term outcomes. - Enhanced quality of life for children and families. ย At Sebia, we are dedicated to providing accurate diagnostic solutions for genetic diseasesโคต๏ธย https://lnkd.in/eQbYtr6F ย Together, we can ensure a healthy future for every newborn ๐ฃ Let us continue to support and advocate to ensure that all children have access to newborn screening. ย #NewbornScreening #INSD #NeonatalScreeningMatters #InternationalNeonatalScreeningDay #Sebia
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๐๐ฎ๐ง๐ ๐๐๐ญ๐ก - ๐๐ง๐ญ๐๐ซ๐ง๐๐ญ๐ข๐จ๐ง๐๐ฅ ๐๐๐จ๐ง๐๐ญ๐๐ฅ ๐๐๐ซ๐๐๐ง๐ข๐ง๐ ๐๐๐ฒ ๐ถ๐ป๐งฌ Over the past 60 years, newborn screening has diagnosed and treated millions of babies with genetic diseases, saving and improving lives. However, less than a third of newborns are screened each year globally. Today, we celebrate the life-changing benefits of early disease detection and the opportunities it offers for timely treatment. ๐ ๐๐ก๐ฒ ๐ข๐ฌ ๐ง๐๐จ๐ง๐๐ญ๐๐ฅ ๐ฌ๐๐ซ๐๐๐ง๐ข๐ง๐ ๐ข๐ฆ๐ฉ๐จ๐ซ๐ญ๐๐ง๐ญ? - Early detection of serious but treatable conditions. - Timely intervention to improve long-term outcomes. - Enhanced quality of life for children and families. At Sebia, we are dedicated to providing accurate diagnostic solutions for genetic diseasesโคต๏ธ https://lnkd.in/eDw3Y-mf Together, we can ensure a healthy future for every newborn ๐ฃ Let us continue to support and advocate to ensure that all children have access to newborn screening. #NewbornScreening #INSD #NeonatalScreeningMatters #InternationalNeonatalScreeningDay #Sebia
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Imagine a world where even the common cold could be fatal for a newborn. This is the reality for infants with Severe Combined Immunodeficiency (SCID), a genetic condition so severe that it's often referred to as 'bubble boy disease.' It's invisible at birth but can be upsetting without early intervention. Newborn screening serves as our shield against this silent threat, capable of detecting SCID before it's too late and paving the way for life-saving treatments. In the delicate first moments of life, a newborn screening can make all the difference. Learn more about the detection of SCID through Newborn Screening in our latest article: https://lnkd.in/dYbeaRMp #NewbornScreening #EarlyDetection #ProtectOurLittleOnes #FightSCID #SCID #EkSahiShuruat #ANewBeginning Trivitron Healthcare
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๐ Exciting strides in the realm of pediatric rare diseases are illuminating paths of hope across all 50 states, thanks to newborn screening initiatives! ๐บ๐ธ A remarkable update from my dear friend and beacon of brilliance in healthcare, Afshan Hussain , truly underscores the impact of these advancements. **Afshan, whom I've had the privilege of knowing and even working with for over 15 years, embodies the essence of brilliance, dedication and compassion in her work. ๐ ๐ถ Deciding to start a family comes with its set of challenges, especially for carriers of #rarediseases. But imagine the possibilities if we could treat these conditions in utero. This isn't just a thought experiment; it's becoming a reality. Dr. Tippi MacKenzie's inspiring success story shared at #worldsymposium about young IOPD patient Ayla, who thrived thanks to in utero transfusions, is a beacon of hope. Ayla's journey, from a family history marked by loss to a life of normal motor and cardiac function, illustrates the profound potential of scientific innovation. ๐ ๐ฌ These groundbreaking procedures, currently being tested for IOPD and other genetic disorders like SMA, are redefining what's possible in medical science and family planning for those affected by genetic diseases. ๐ก Every update from Afshan reminds me of the incredible human spirit that drives our quest for betterment, especially in the field of rare and orphan diseases. Her relentless pursuit to make a #meaningfuldifference is a source of constant inspiration. ๐ค I encourage everyone in my network to connect with Afshan and learn how we can support her mission in transforming care for rare diseases. Let's join hands in supporting this noble cause and help bring these dreams of betterment to fruition. Together, we can make a difference! ๐ #RareDiseaseAwareness #InnovativeTreatment #HealthcareHeroes #SupportRareDiseaseResearch
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We finally have newborn screening in all 50 states for some pediatric rare diseases. But making the decision to have a child when you know you are a carrier of a #raredisease can pose a different type of challenge. Parents must decide what risk they are willing to assume. Imagine if we could treat in utero. How would that change family planning for individuals who are carriers of a genetic disease? Dr. Tippi MacKenzie shared a success story at #worldsymposium of a young IOPD patient, Ayla, with 2 older siblings who didn't survive. With the help of in utero transfusions her parents were able to finally have a baby. Little Ayla received routine postnatal care and ERT for her Pompe, and has normal motor and cardiac function. This amazing procedure is being tested in IOPD and other genetic disorders like SMA. Scientific advancements are changing lives in such meaningful ways. #havashealth #onehavas making #meaningfuldifference in #rarediseases #rarediseaseawareness
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September is Newborn Screening Awareness Month which is a time to raise awareness of the critical need to make newborn screening (NBS) programs available universally. Meet Sophie, whose son Milo was diagnosed at 5 weeks old with spinal muscular atrophy (SMA), a rare devastating genetic disease that affects muscle functions such as breathing, swallowing and basic movement. Newborn screening for SMA was not available in her country when Milo was born. Not all rare genetic diseases are clinically evident at birth, and many can often go unseen for weeks or months as a disease progresses. Through NBS, a sample of blood is taken from a babyโs heel hours after theyโre born, which allows for the detection of rare, yet treatable, genetic diseases like SMA. Learn more about NBS for SMA here: bitly.ws/Lo9E #NewbornScreening #NBSAwarenessMonth #SpinalMuscularAtrophy
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Today is International Neonatal Screening Day. Newborn screening is critical for the early detection of many genetic diseases, providing accurate diagnoses and ensuring rapid referrals within the first few weeks of life. For patients with Krabbe disease, newborn screening is essential. It significantly reduces the time to access vital treatments, which is crucial for their health outcomes. Thanks to the advocacy efforts of patient families and organizations, more states now include Krabbe disease on their newborn screening panels or have RUSP (recommended uniform screening panel) alignment legislation. Learn more about the importance of neonatal screening here โก๏ธ https://hubs.li/Q02DHcfM0
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Over 13,000 newborns are identified with conditions such as cystic fibrosis, sickle cell disease, and congenital heart defects through newborn screening every year. September marks Newborn Screening Awareness Month, dedicated to increasing awareness about the critical role of a comprehensive newborn screening in detecting manageable conditions early. Newborn screening, or neonatal screening, involves testing infants in their first days of life for specific disorders that may impact their normal development. Early treatment and management can prevent or minimize symptoms, positively influencing health outcomes. Newborn screening changes lives. Medicover Genetics provides a comprehensive genetic test that screens for conditions affecting newborns' development, enabling the detection of treatable or manageable conditions before symptoms manifest. Learn more about our neonatal screening offering: https://lnkd.in/e99K-tDs #NewbornScreening #MedicoverGenetics #newbornย
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As mentioned by Biogen , newborn screening is a crucial point in the case of rare diseases. Most of the clinician are agree that initiating a new treatment as soon as possible is a key factor in the case of #rarediseases. Moreover, even if the latest figures provided by World Health Organization indicate an estimation of 400M peoples suffering of rare diseases worldwide, this can be underestimated seeing the lack of diagnostic tests. At APTEEUS we are currently working on #zellwegerdisordersspectrum, a rare disease for which patients could benefit from the newly newborn screening of #verylongchainfattyacids set in the US for X-Linked Adrenoleukodystrophy. Letโs hope this type of initiative will increase in the future.
September is Newborn Screening Awareness Month. Newborn screening is essential for early diagnosis and treatment of rare diseases, offering families the best chance for improved outcomes. Learn more: #SMA | #NBSAwarenessMonth | #NewbornScreening
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๐ฌ Study on Long COVID-19 Symptoms in Children and Adolescents ๐ A comprehensive study led by Anna-Lisa Sorg, Selina Becht, Marietta Jenkins, Jakob Armann, Ulrich von Both, M.D., Markus Hufnagel, Fabian Lander, Johannes G Liese, Tim Niehues, Verjans Eva, Martin Wetzke, Silvia Stojanov, Uta Behrends, Christian Drosten, Horst Schroten, Rรผdiger von Kries examines the association of SARS-CoV-2 seropositivity with symptoms related to myalgic encephalomyelitis and/or chronic fatigue syndrome (ME/CFS) among children and adolescents in Germany. Key Findings: 31.2% reported clustered ME/CFS symptoms, including 40.0% of SARS-CoV-2-seropositive and 29.6% of seronegative participants. After adjustments, the risk ratio for reporting clustered ME/CFS symptoms decreased significantly. https://ow.ly/Rvns50QgROM #COVID19 #PediatricHealth #MedicalResearch #ChronicFatigue #PublicHealth #HealthcareInnovation #ClinicalStudy
Acapedia CME | SARS-CoV-2, ME/CFS in Children & Adolescents
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