Thermo Fisher Scientific on LinkedIn: Webinar: Application of Capillary Electrophoresis in Rare and Inherited… (2024)

🌐 Tuberculosis AwarenessTB is a chronic respiratory disease caused by Mycobacterium tuberculosis, often in the lungs. It spreads through the air and can be latent (no symptoms) or active (with symptoms like cough, fatigue). Early diagnosis is key, with rapid molecular tests recommended. Pluslife's molecular POCT solution offers quick and lab-level accurate TB tests, with the sputum and tongue swab options making sampling easier.🏥 Treatment and PreventionEarly treatment and consistent medication can successfully cure active TB, rendering patients non-contagious. Prevention involves managing infection sources, early testing, and interrupting transmission pathways. More information at www.pluslife.comLet's unite to #EndTB! 💙 #Tuberculosis #moleculardiagnostics #pointofcare #infectiousdiseases

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Turns out RAREis not rare. According to NORD, one out of every 10 Americans lives with a rare disease. Worldwide, there are more than 300 million people with rare diseases. These individuals and their families are without answers to their medical questions. Today's celebration of Rare Disease Day is a global initiative to raise awareness and generate support for everyone who is on a rare medical journey. The zebra is the official mascot for rare disease patients. Historically, medical professionals were told that when they “hear hoofbeats,” they should not expect to see a zebra but rather the more common/expected creator of the sound: a horse. One in ten Americans actually is a zebra! Answers and diagnosis are not always obvious, which is why #RareDiseaseDay, people are encouraged to #ShowYourStripes.SequenceMD understands the testing, diagnosis, treatment and maintenance needed for certain individuals. Reach out today to learn how genetic testing can support understanding of current symptoms and future health.#rarediseaseday #genetictesting #genetics #sequencemd #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #geneticdisorders

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Curious about a powerful knowledge graph for genes, diseases, and phenotypes? Discover the Monarch Initiative today to discover more about interoperability and many other features: https://lnkd.in/feVzi3f https://lnkd.in/e4ZE4wqk

📊 The Central Rare Disease Registry and other data collections are essential tools in the journey towards a shorter diagnosis time and optimized access to care for rare disease patients.💪 So let’s use them to the fullest!🔎 We should stimulate the coverage and systematic update of the Central Rare Disease Registry, and expand the data collection from the genetic centres to the Rare Disease Functions and ERN.💡 Discover more about this - and about all our policy recommendations - in the RADDIAL Memorandum: https://raddial.be/#RareDiseases #RareDiseaseDiagnosisAlliance #RADDIAL #ERN #EuropeanReferenceNetwork #medicaldata #healthcaredata #rarediseaseregistry

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#RareDiseaseDay is 13 days away!Primary hyperoxaluria, the focus of our lead program, is one of many genetic rare diseases. Each day, we’re committed to advancing our #PH1 program and delivering a potential solution to help patients.Read about the genetic drivers of primary hyperoxaluria here:https://lnkd.in/e68Gbvcj

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Today is Rare Disease Day, which aims to raise awareness and generate change for the 300 million people living with a rare disease worldwide. Genetic testing is often an essential part of the diagnostic process for rare diseases; approximately 72% of rare diseases are genetic. APDS is a genetic condition. In APDS, a definitive diagnosis is essential for disease management and can help alleviate the uncertainty that patients and their families experience from living with unanswered questions about their health.Learn more at https://shor.by/avrd#primaryimmunodeficiency#AllaboutAPDS #rarediseaseday

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If you're worried about whether you may develop #type1diabetes, you can now order a home test which uses genetics to measure whether you're at high risk. It's developed with Randox, and based on ten years of research led by Professor Richard Oram. Knowing if you're at high risk is particularly important to spot signs swiftly, and because new drugs are being developed that are only effective at early stages of the disease developing. https://lnkd.in/eKKTnnxr#diabetes #t1d #diabetesresearch #diabetestreatment #genomics #genomicmedicine Diabetes UK JDRF UK University of Exeter

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Share this link! In August, we launched ThinkPCD.com alongside Sano Genetics and Reverba. ThinkPCD is a U.S. patient identification program designed to educate healthcare professionals about the disease and offer genetic testing for undiagnosed individuals.If you or someone you know has experienced symptoms of PCD, such as chronic respiratory infections beginning as a child, visit https://ThinkPCD.com to learn more.#pcd #mrna #geneticmedicine

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Have you ever wondered why some people have blue eyes while others have brown? Or why some folks are more likely to get certain diseases?It’s all about our genes, the instructions passed down from our parents, making us who we are.But not all genes are the same. Some have tiny differences, called genetic variants, in their code. These variants can change how a gene works and affect our appearance and health.Read on to explore genotyping, a way to find these genetic variants in an individual or a population.https://qr.ae/psTsvl OR https://lnkd.in/g-Xae8r8#parents #differences #geneticvariants #code #appearance #genotyping #individual #population #xcode #xcodelife #genetics #genetest #genetictesting #genetictest #genomics #genome #geneticmakeup #geneticlink #geneticcounseling #genetictraits #genes #DNA #DNAtest #DNAtesting #nutrition #research #study #findings #health #wellness #didyouknow #sundayfunday #sundaythoughts #sundayread #weekendread #dailypost #dailytips #dailyupdates #everydaylearning

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This #RareDiseaseDay, Labcorp aims to raise awareness of the 300 million people worldwide living with a rare disease. The diagnosis and management of these diseases can be challenging due to their unique presentation and low prevalence. In our recent Pri-Med webinar, subject matter experts share how genetic counselors can help you navigate the complex journey through rare disease, create practice efficiencies and optimize patient care. To watch the webinar, visit http://spr.ly/6048XH8SC#ShowYourStripes

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