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Leading up to Rare Disease Day, we’re spotlighting the importance of newborn screening for the early detection of rare diseases.   The majority of rare diseases are genetic. In genetic diseases like Duchenne muscular dystrophy, early diagnosis can lead to earlier treatment. The average age of Duchenne diagnosis – 5 years old – has remained roughly unchanged for 30 years. By age 5, children with Duchenne already have significant and irreversible muscle damage, signs of which are present at birth.   At Sarepta, we believe that newborn screening is essential to eliminating the diagnostic delay that persists in Duchenne, and we support the inclusion of Duchenne in existing newborn screening programs so that families can make timely and informed decisions about their child's care and so that all patients have the chance to benefit from early diagnosis and treatment. #RareDiseaseDay #NewbornScreening

𝐄𝐧𝐠𝐥𝐚𝐧𝐝 𝐛𝐞𝐠𝐢𝐧𝐬 𝐬𝐜𝐫𝐞𝐞𝐧𝐢𝐧𝐠 𝐧𝐞𝐰𝐛𝐨𝐫𝐧𝐬 𝐟𝐨𝐫 𝟐𝟎𝟎 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐝𝐢𝐬𝐞𝐚𝐬𝐞𝐬 England has launched a groundbreaking initiative to screen newborns for over 200 rare genetic diseases. This is part of the Generation Study, led by Genomics England and the NHS. Up to 100,000 babies will undergo whole genome sequencing, offering early diagnosis and treatment for conditions like metachromatic leukodystrophy (MLD). This proactive approach is vital for detecting treatable genetic conditions before symptoms arise, potentially preventing severe health complications and improving life expectancy. Over 500 babies have already been screened across 13 NHS hospitals, with plans to expand to 40 hospitals. Early genetic screening is a game-changer, allowing families to access timely treatments, support, and resources that can significantly impact their child’s health. NHS Chief Executive Amanda Pritchard emphasizes that early diagnosis through genomic testing could be life-changing for thousands of children, giving them the best possible start in life. Parents are given the choice to participate in the study during pregnancy, and results are typically delivered within 28 days, providing immediate access to care if necessary. This initiative could drastically reduce hospital visits, offering healthier lives for many children. This pioneering effort highlights the importance of innovation in healthcare and the potential of genomic technology to revolutionize early disease detection. #GenomicScreening #HealthInnovation #GenomicsEngland #NHS #GeneticDiseases #NewbornScreening #HealthcareTransformation #MedicalResearch

In the realm of neonatal care, newborn genetic screening emerges as a pivotal advancement with the potential to significantly reduce neonatal mortality and lifelong disabilities due to rare diseases. 👶 Yet, as we push the boundaries of what's possible, we must also navigate the complex ethical and socioeconomic challenges that accompany global implementation. 🌎 Learn more in our latest blog. 👇 https://lnkd.in/gYn45_BE #ClinicalTrials #PrecisionMedicine

💡 𝐃𝐢𝐝 𝐲𝐨𝐮 𝐤𝐧𝐨𝐰 𝐭𝐡𝐚𝐭 𝐧𝐞𝐰𝐛𝐨𝐫𝐧 𝐬𝐜𝐫𝐞𝐞𝐧𝐢𝐧𝐠 𝐜𝐚𝐧 𝐝𝐞𝐭𝐞𝐜𝐭 𝐬𝐞𝐯𝐞𝐫𝐞 𝐫𝐚𝐫𝐞 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬 𝐞𝐚𝐫𝐥𝐲 𝐨𝐧, 𝐞𝐧𝐚𝐛𝐥𝐢𝐧𝐠 𝐭𝐢𝐦𝐞𝐥𝐲 𝐚𝐧𝐝 𝐥𝐢𝐟𝐞-𝐬𝐚𝐯𝐢𝐧𝐠 𝐭𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭𝐬? In Italy, the newborn screening program currently covers 49 genetic conditions. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. The test, which is free of charge, is done between 48 and 72 hours after birth, directly at the hospital where the baby was born. However, there is still room for improvement: based on recent scientific advancements, 𝐭𝐡𝐞𝐫𝐞 𝐚𝐫𝐞 9 𝐚𝐝𝐝𝐢𝐭𝐢𝐨𝐧𝐚𝐥 𝐫𝐚𝐫𝐞 𝐝𝐢𝐬𝐞𝐚𝐬𝐞𝐬 𝐭𝐡𝐚𝐭 𝐜𝐚𝐧 𝐛𝐞 𝐞𝐟𝐟𝐞𝐜𝐭𝐢𝐯𝐞𝐥𝐲 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐞𝐝  and treated when caught early. 🎯 𝐖𝐡𝐲 𝐭𝐡𝐢𝐬 𝐦𝐚𝐭𝐭𝐞𝐫𝐬: : Early detection through neonatal screening provides an opportunity to start treatment before symptoms develop, improving quality of life and survival outcomes for affected children. 🔍 Below is a summary of these diseases, their frequency, and key characteristics. #rarediseases #newbornscreening

🌡️Can Newborn screening help tackle the burden of #RareDiseases in Africa? 🪄Towards #RareDiseasesDay we're re-sharing an article where Dr. Mohamed Zahir Alimohamed, PhD from @humangeneticstz explores the importance of newborn screening for rare #genetic disorders and challenges that come with it. 🗝️More at https://shorturl.at/ioBX2 #NewbornScreening #RareDiseases

Why are women more prone to autoimmune diseases? Imagine this, just by being born a certain gender, you are more at risk to have autoimmunity. Genetic predispositions, particularly genes on the X chromosome (of which women have two and men have one), play a crucial role in this biased suseptibility. Understanding of these phenomenons is significant for treatment and care tailored to gender specific health needs. #AutoimmuneDiseases #WomensHealth #MedicalResearch #Healthcare #GenderHealth https://lnkd.in/dU7aE5S7

It has been a mystery as to why women account for around 80% of all cases of autoimmune disease. Considering that women carry two copies of X chromosome (XX) while men carry only one copy of it (XY), it was thought that this anomaly could potentially account for this disparity. This study supports that notion. The study shows that proteins and XIST RNA central to X-chromosome inactivation (only one of the two copies of X chromosome is inactivated) are potentially responsible for triggering autoantibodies in women. This study was conducted in a mouse model for lupus. Interestingly, the same autoantibodies were also identified in blood samples from people with lupus, scleroderma and dermatomyositis, indicating that a general mechanism might account for triggering autoantibodies in various autoimmune diseases.

Great news! Latvia has officially launched Newborn Screening for SCID! This remarkable advancement means that newborns in Latvia will receive timely identification, giving them a crucial chance at survival. Newborn screening for Severe Combined Immunodeficiency (SCID) is a critical public health program aimed at detecting SCID early in infants. SCID is a group of rare, life-threatening genetic disorders characterized by a severely impaired immune system, making infants highly susceptible to infections. Early identification through screening allows for timely medical intervention, significantly improving survival rates and health outcomes. #worldpiweek2024 #scid #pid #primaryimmunodeficiency #primaryimmunedeficiency #severecombinedimmunodeficiency #severecombinedimmunedeficiency #chronicgranulomatousdisease #immune #immunesystem #immunedefense #immunedisorders #immunedisorder #immunedeficiency #latvia

It’s ICONic Given the background of fantastical lies circulating in the US about health care providers terminating babies lives and performing genital operations in schools, it was very encouraging and heartening to attend the meeting of the International Conference on Newborn Sequencing(ICONS) this week in New York. There were presentations from around the world (literally) on the benefit, and challenges of implementing genetic screening at birth first developed by Dr. Robert Guthrie for PKU in the early 1960s. His daughter gave a wonderful presentation. The knowledge, experience, sincere dedication of all the attendees was overwhelming. There were platform and poster presentations ranging from paying for cost of testing to implementation of results of testing for myriad inherited disorders such as Sickle Cell Disease, cystic fibrosis and many rarer diseases. The cost savings from newborn testing in are obvious in most cases. Some countries implement gNBS as a governmental public health initiative, some as a private initiative. Data privacy is an important concern as is the role of public and private partnerships. There were speakers from HRSA , the CDC in the US and those representing other governmental agencies in other countries. Of course many physicians and scientists provided presentations. One of the data that is remarkable is that in the US 62,000 will be born with genetic disorders that are undetected. An obvious opportunity for improvement.A goal of ongoing studies is to monitor actions after detection to determine effectiveness. Optimism was infectious!

𝐔𝐧𝐝𝐞𝐫𝐬𝐭𝐚𝐧𝐝𝐢𝐧𝐠 𝐒𝐢𝐜𝐤𝐥𝐞 𝐂𝐞𝐥𝐥 𝐃𝐢𝐬𝐞𝐚𝐬𝐞: 𝐂𝐚𝐮𝐬𝐞𝐬, 𝐒𝐲𝐦𝐩𝐭𝐨𝐦𝐬, 𝐏𝐫𝐞𝐯𝐞𝐧𝐭𝐢𝐨𝐧, 𝐚𝐧𝐝 𝐌𝐨𝐫𝐞 Sickle cell disease is a genetic condition that affects the red blood cells in our body. To understand this condition better, let’s break it down into simple terms. What is Sickle Cell Disease? Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Normally, red blood cells are round and flexible, like doughnuts without holes. This shape allows them to move easily through blood vessels. However, in people with sickle cell disease, the red blood cells are shaped like crescent moons or sickles. These sickle-shaped cells can get stuck in small blood vessels, blocking blood flow and causing pain and other serious problems Read more >>> https://lnkd.in/dwCx3UfE #Healthcare Please share to love ones out there... Let's grow, support and save a life. Am doing mine ⛑️🧬💙 what about you? Do yours by sharing and connecting with me🤝