1 in 10 people are impacted by a rare genetic disease, yet 50% remain unclassified despite increases in genetic testing. Read how in a recent study, researchers at the University of California, Santa Cruz overcame this gap by utilising long #nanopore reads to reveal more genetic information behind unsolved disease cases. Discover how this could offer a single, cost-effective, and rapid solution to identify rare diseases in the future. https://bit.ly/4aSleZX
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Have you linked the importance of genetic testing with Eye Diseases? 👁👓 Studying your DNA may provide clues for detecting problems and solutions with personalized medicine. Our team has found this subject fascinating, with many cases studied that are truly remarkable. Have a read more about this topic below: https://lnkd.in/e23nUA-m #eyedisease #rarediseases #dna #genetictesting
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Hereditary Angioedema: Rare diseases can be difficult to diagnose, and day-to-day management can be complicated. The Revvity Omics community aims to increase awareness and understanding of the significant impact these conditions can have on patients. Explore our genetic testing options today! http://ms.spr.ly/6044lHLY0 For more details, reach out to us at [email protected] #RevvityOmics #WGS #Genetictesting #NGS #rarediseaseawareness
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Did you know? Hereditary Angioedema (HAE) is a rare genetic disorder where early diagnosis can save lives! Contact the Revvity Omics team to learn about our genetic testing options. #HAE #GeneticTesting #RevvityOmics
Hereditary Angioedema: Rare diseases can be difficult to diagnose, and day-to-day management can be complicated. The Revvity Omics community aims to increase awareness and understanding of the significant impact these conditions can have on patients. Explore our genetic testing options today! http://ms.spr.ly/6044lHLY0 For more details, reach out to us at [email protected] #RevvityOmics #WGS #Genetictesting #NGS #rarediseaseawareness
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Genetic testing for eye diseases has advanced significantly. DNA can be analysed to detect genetic markers linked to various eye conditions. This is crucial for those with a family history of eye issues, as it enables early intervention and more effective treatment plans. https://lnkd.in/dXs76fAD #wholegenomesequencing #geneticanalysis #dna #healthcard #eyedisease
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Aortic diameter, and 'root' & 'ascending' phenotypes, influence treatment for ascending aortic aneurysms. Genetic testing is required in about 20% of cases. Jose Rodriguez Palomares reviews key points from the 2024 #ESCGuidelines on aortic and peripheral arterial diseases. Learn more on the latest #ESCTVToday episode https://bit.ly/49gZBBE Sign up for reminders so you Never Miss a Beat https://bit.ly/3UZiMK9 #AorticAneurysms #cardiovascular #heartdisease
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Did you know that around 80% of rare diseases are of genetic origin and, of those, 70% start in childhood? Rare genetic diseases are often caused by mutations in genes, impacting various aspects of health and development—just like in our case. We are committed to delving into the genetic roots of v-ATPase conditions and exploring how advances in genetic research are paving the way for improved diagnosis and treatment options. We believe progress is possible, but we cannot do it alone. Consider helping us getting there. #factfriday #GeneticResearch #UnderstandingGenetics #RareDiseaseGenetics #vATPase #rarediseaseawareness
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Mitochondrial disease (mito) is a genetic disease. It robs our body’s cells of energy and can be fatal. 1 in 200 people have genetic changes that put them at risk of developing mito. Learn more about mito: https://lnkd.in/ghcve9T6 [Image description: Icon of a group of people with one person highlighted. Text reads '1 in 200 people have genetic changes that put them at risk of developing mitochondrial disease (mito).]
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🧬 Detect Rare Diseases Early with Genetic Testing! Don't let the unknown slow down your health journey. Genetic testing can help uncover the root cause of rare diseases, offering personalized care and early intervention. 💡 Learn about: 🌟 How genetic testing works 🌟 Benefits of early detection 🌟 Who should consider testing 👉 Learn more: https://lnkd.in/d3S4Fmav #GeneticTesting #RareDiseases #EarlyDetection #PersonalizedMedicine #HealthCareInnovation #GeneticScreening
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#mdpimedicina #VideoAbstract 📰 Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants ✍ By Larisa Bianca Galea-Holhos, Emilia Severin et al. 🔗 Read the full article: https://lnkd.in/gNJb5Ems
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