Congenital Adrenal Hyperplasia (CAH) is a rare, genetic condition that results in an enzyme deficiency that alters the production of adrenal hormones. June is CAH Awareness Month, which aims to recognize individuals and their families impacted by this condition. Learn more about CAH in this article, including the personal story of a person living with CAH. https://lnkd.in/dmCU_zjb #CAHAwarenessMonth
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What is UCD? A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the bloodstream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in elevated blood ammonia. This is extremely dangerous and sometimes fatal. For more information on Urea Cycle Disorder, who can be affected, and signs/symptoms to look for, visit https://lnkd.in/e9DFp4t7. #ucd #ucds #ureacycledisorder #raredisease #rarediseases #rarediseasewareness #rarediseaseresearch #nucdf
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October marks #HomocystinuriaAwarenessMonth. Danaé Bartke is the executive director of HCU Network America and has classical homocystinuria. She explains that while improvements in #NewbornScreening processes can potentially help more babies to receive that vital early diagnosis, progress relies on each state updating their screening protocols - something her organisation works towards. What is #Homocystinuria (HCU)? - Homocystinuria refers to a group of inherited disorders in which the body cannot process certain building blocks of proteins (amino acids) properly. - This increases homocysteine and other amino acids in the blood and urine. The most common type of genetic homocystinuria, called #CBSDeficiency, is caused by the lack of an enzyme known as #CystathionineBetaSynthase (#CBS). - Homocystinuria can affect the eyes, skeleton, central nervous system and the blood clotting system. Read Danaé's story: https://lnkd.in/gfBcmryS Read the full #NewbornScreening edition here: https://lnkd.in/e3MQyVka
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How is Congenital Myastenic Syndrome (CMS) Different from Myasthenia Gravis (MG)? 💭 🔗 Get the basics about CMS, a rare genetic condition: https://lnkd.in/grFN-58i - #CongenitalMyasthenicSyndrome #CMS #MyastheniaGravis #MG #raredisease #rarediseases #rarediseaseawareness #KnowRare
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Associate Dean for Oncologic Sciences, Warren Alpert Medical School, Brown University, Providence, RI
Genetic ablation of adhesion ligands mitigates rejection of allogeneic cellular immunotherapies https://lnkd.in/e7bJw4C6
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Be in the know
Genetic lipid conditions are common, but our research shows 70% of people with FH have still not been diagnosed. Help us find these families so we can save more hearts this #HeartMonth! Learn more at FamilyHeart.org. #KnowFH #KnowLpa
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Plavix, also known as Clopidogrel, is a commonly prescribed medication that plays a crucial role in preventing heart attacks and strokes. By inhibiting blood clots, it helps safeguard against these life-threatening conditions. 💔💥 But here's the catch: an individual's genetic makeup or DNA can greatly influence Plavix's effectiveness. Certain genetic variations can make the drug less effective in preventing blood clots. 😮 Research suggests that up to 30% of the population possesses this genetic variation, highlighting how DNA can have a significant impact on the effectiveness of medications like Plavix. ��💊 Stay informed and take care of your health! ❤️ #MedicationAwareness #Genetics #HealthTips
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Owner of Informed Rx | Consultant Pharmacist | Pharmacogenomics | Comprehensive Medication Management | Entrepreneur
Plavix, also known as Clopidogrel, is a commonly prescribed medication that plays a crucial role in preventing heart attacks and strokes. By inhibiting blood clots, it helps safeguard against these life-threatening conditions. 💔💥 But here's the catch: an individual's genetic makeup or DNA can greatly influence Plavix's effectiveness. Certain genetic variations can make the drug less effective in preventing blood clots. 😮 Research suggests that up to 30% of the population possesses this genetic variation, highlighting how DNA can have a significant impact on the effectiveness of medications like Plavix. 🧬💊 Stay informed and take care of your health! ❤️ #MedicationAwareness #Genetics #HealthTips
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Genetic lipid conditions are common, but our research shows 70% of people with FH have still not been diagnosed. Help us find these families so we can save more hearts this #HeartMonth! Learn more at FamilyHeart.org. #KnowFH #KnowLpa
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MTHFR stands for methylenetetrahydrofolate reductase, the infamous enzyme whose incorrect shape can predispose you to a long list of conditions. An MTHFR genetic test does not require a medical recommendation. You can download your raw DNA data and upload it to a third-party service provider to get your results. Genetic Genie and Xcode Life are third-party tools that provide a comprehensive MTHFR status report using your raw data from companies like 23andme, AncestryDNA, Family Tree DNA (FTDNA), etc. Let’s compare these two popular tools that provide you with your MTHFR status. https://qr.ae/psUVR2 OR https://lnkd.in/d5HY5dBv #methylation #MTHFRgene #MTHFRenzyme #MTHFRgenetest #MTHFR #methylenetetrahydrofolatereductase #enzyme #MTHFRgenetictest #medicalrecommendation #rawdata #serviceprovider #geneticgenie #MTHFRstatus #23andme #AncestryDNA #FamilyTreeDNA #FTDNA #xcode #xcodelife #genetics #genetest #genetictesting #genetictest #genomics #genome #geneticmakeup #geneticlink #geneticcounseling #genetictraits #genes #DNA #DNAtest #DNAtesting #research #study #findings #nutrition #health #wellness #didyouknow #wednesdaywellness #wednesdaywisdom #wednesdaythoughts #dailypost #dailytips #dailyupdates #everydaylearning
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MSAT Scientist I Personalized Medicine I Ai/ML| hiPSCs stem cells | Analytics & QC | cGMP | Cell & Gene Therapy | CAR-T ♋I CAR-T | ImmunoTherapy | Gene editing CRISPR🧬✂️ #CAR-T🔬🦠🩸🫁🫀|
#CRISPR making it easy Doctors Can Now Edit the Genes Inside Your Body The success stories emerging from these trials are promising, indicating a future where genetic diseases could be treated more effectively and perhaps even cured https://lnkd.in/gqCTCad3
Doctors Can Now Edit the Genes Inside Your Body
wsj.com
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1moHas anyone here had the opportunity to meet Dr. Maria New (Cornell/Mt. Sinai)?