The NCATS-funded GEMINI study shows how whole-genome sequencing can significantly affect treatment decisions for infants with suspected genetic conditions. This method proves to be more effective in pin-pointing disease-causing variants, which aids in early intervention and care. https://go.nih.gov/RRpdFaN
National Center for Advancing Translational Sciences (NCATS)’s Post
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Genetic Disease Inherited genetic mutations or abnormalities are responsible for conditions like #cysticfibrosis , #sicklecell cell anemia, and #huntington 's disease. For More Insights: https://lnkd.in/dA7E6jnv Lorem Ipsum has been the industry's standard dummy text since the 1500s, when an unknown printer scrambled it to make a type specimen book. It has survived not only five centuries but also electronic typesetting, remaining essentially unchanged. #GeneticDisease Brandessence® Market Research
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Exciting update! 🎉 Our latest research paper delves into 'Pathogenesis and Treatment of Oral Disorders Linked to Genetic Variants'. Explore the details now! #DentalResearch #GeneticDisorders
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📣 All of Us Returns Health-Related DNA Results to 100,000 Participants In doing so, the nationwide precision medicine effort identifies 7,000 new genetic variants to improve genetic testing for all Another big milestone. Not only are people receiving information to inform their own health care, the provider community now has information on 7,000 new genetic variants to inform health care for ALL. https://lnkd.in/gvxFVsNc
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We have updated our Diagnostic Panels for Immune and Blood Disorders. It now includes the most recent classification by the International Union of Immunological Societies (IUIS). Additionally, our Panel for Blood Disorders has been expanded. The basis for the Diagnostic Panels for Immune and Blood Disorders is our high-quality ExomeXtra® sequencing, as accurate diagnosis heavily relies on identifying pathogenic genetic changes. By integrating the latest IUIS classifications and current research data, we increase our ability to provide precise and reliable genetic insights. Learn more about our update: https://lnkd.in/eYfUg_AG #genetics #sequencing #genepanel #NGS #immunedisorders #blooddisorders #diagnostics
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Did you know that there is a tool for genetic diagnosis in complex patients? Through the sequencing of the whole genome and its subsequent interpretation, oriented to the clinical signs and symptoms of the patient. In this #TalkingAboutGenetics, 👨⚕️Dr. Jorge Armando Rojas Martinez, a medical geneticist at Veritas, explains it in detail. For more information about #GenomeDx visit ➡️ https://hubs.ly/Q02dZmT-0
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Brush up on the basics of familial hypercholesterolemia and share these resources with peers and colleagues. Tools and resources on diagnosis, management and genetic testing. www.geneticseducation.ca > Cardiogenomics ❤️
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Breaking down #PFIC: progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder caused by defects in genes that proteins need to form bile and transport it out of the liver. This rare disorder affects 1 in every 50,000 to 100,000 births in the US and Europe. To learn more, visit https://bit.ly/40F5cNq
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It's online! In this original comprehensive review we discuss the landscape of Rare genetic diseases and the multitude of ways CRISPR maybe harnessed for the correction & therapy of such debilitating disorders. Plz read & share! https://lnkd.in/d7p4fx6d
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Desperate for answers and a solution to his health issues, Craig discovered clinical research and trials, leading him to undergo genetic testing with Invitae. This genetic test finally revealed his diagnosis of ADH1, a rare genetic condition related to hypoparathyroidism, which can cause chronically low levels of calcium in the blood and high levels of calcium in the urine. Let's bring awareness to the value of genetic testing, clinical trials, research, and accurate diagnoses for #WorldThyroidDay. 🧬🌍 #BehindTheMystery #ADH1 #ADH1Awareness #Hypoparathyroidism #RareDisease #RareDiseaseAwareness
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Exciting news in the medical field - the first gene-editing therapy for beta thalassemia could be a game changer! According to BBC, this groundbreaking treatment has shown promise in potentially curing this inherited blood disorder. This is a huge step forward in the fight against genetic diseases. #GeneEditing #MedicalBreakthrough Link to the article: [insert link] Let's spread the word and celebrate the progress in medical science! #HealthcareAdvances https://ift.tt/vyUi5Ch
