Alpha-1 Antitrypsin deficiency is the most common genetic risk factor for COPD as well as liver disease in children. Early diagnosis is essential and lung damage is not reversible. SPIFE Touch A1AT allows identification of clinically relevant phenotypes on up to 40 samples per gel. Separations are clear for greater ease in interpretation. https://lnkd.in/gFaXq6kM
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(6/9) We are excited to disclose our second genetic disease program: Fabry disease. In #Fabrydisease, which effects approximately 8,000 people in the U.S., harmful levels of Gb3 accumulate in blood cells and tissues throughout the body, due to insufficient αGal enzyme activity, which can lead to a range of symptoms, including potentially life-threatening ones such as kidney failure, heart failure and stroke. We have created the first non-inhibitory chaperone, which is designed to stabilize the αGal protein without inhibiting its activity, thus enabling greater Gb3 clearance across organs. We expect this program to enter the clinic in the second half of 2025.
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Step into the shoes of those living with cystic fibrosis (CF) through our carousel. CF is a genetic disorder that affects the lungs, pancreas, and other organs. But did you know that CF directly relates to antimicrobial resistance (AMR)? The frequent lung infections CF patients face often require antibiotics, making them more vulnerable to resistant bacteria. Join us in spreading hope and knowledge. Together, we can fight both CF and AMR. 💜 #CFAwareness #FightCF #CysticFibrosisAwareness #AMResistanceFighters
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🌹Non- nutritional causes of anemia 🌹 Sickle cell disease is a genetic blood disorder that significantly increases the risk of #anemia. Individuals with sickle cell disease have abnormally shaped red blood cells, leading to various complications such as acute pain episodes, infection and organ damage. What could be done ❗❗❗ 🎀Increase awareness of sickle cell disease to facilitate early diagnosis and intervention. 🎀Advocate for improved access to comprehensive care services for individuals with sickle cell disease. 🎀Support research for innovative treatments and potential cures for the condition. 🎀Educate individuals with sickle cell disease on self-care practices. 🎀Encourage genetic counseling for informed family planning decisions. #anemiaawareness #hiddenhungerawareness
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APDS is a progressive primary immunodeficiency (PI). Clinical manifestations usually start in infancy with severe, recurrent sinopulmonary infections. The onset of symptoms is heterogeneous and progressive and can vary even within the same family. Early diagnosis is crucial to help guide disease management. An APDS diagnosis can be confirmed with a genetic test. Learn more about APDS clinical features at https://lnkd.in/g6PVUpTS. #apds #primaryimmunodeficiency #allaboutapds
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November is #Alpha1Awareness Month! Join us in raising awareness for Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can lead to serious lung and liver diseases. We are committed to help accelerate new therapies to these patients. ICYMI, here's our webinar with Dr. Barjaktarevic on the topic. https://hubs.la/Q02Wy3vZ0 #AATD
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Let's talk about cystic fibrosis (CF) - a progressive genetic disease that, if left untreated, can cause persistent lung infections and respiratory failure. What else do you need to know? Swipe to learn more and pass this along. What's something you'd like to bring to light about CF? #CysticFibrosis #GeneticMedicine #mRNA
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Alpha-1 Antitrypsin deficiency is the most common genetic risk factor for COPD. Early diagnosis is essential because lung damage is not reversible. Helena’s SPIFE A1AT is a game changer for COPD screening and diagnosis. Clearly separate 40 alpha-1 antitrypsin samples per IEF gel on the SPIFE Touch and soon on SPIFE Nexus. https://lnkd.in/gFaXq6kM
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Alpha 1 antitrypsin deficiency, often called Alpha 1, is a genetic condition where the body does not produce enough of the alpha 1 antitrypsin (AAT) protein. This deficiency can lead to serious lung and liver diseases. It’s estimated that 116 million people worldwide are carriers of abnormal Alpha 1 genes. November is Alpha-1 Awareness Month in the U.S. Learn more about the disease, its symptoms, diagnosis and available treatments here: https://bit.ly/3NW2NJ4
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The Power of Prevention: Genetic Testing and Disease Risk Genetic testing can be a game-changer when it comes to preventing disease. Certain genetic markers are associated with diseases like Alzheimer’s, diabetes, and various cancers. Knowing your genetic predispositions enables you to take preventive actions, whether that’s through lifestyle adjustments, medication, or more frequent screenings. This proactive approach means you’re not waiting for symptoms to appear—you’re staying one step ahead. Think of genetic testing as an early warning system, one that empowers you to live life more fully by reducing health risks before they become a reality.
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Sickel Cell Disease, an inherited blood disorder, often causes red blood cells to become sickle-shaped through the presence of the abnormal hemoglobin S variant. The more rigid sickle-shaped blood may have difficulty passing through small blood vessel, blocking the normal blood flow, damaging tissues, and ultimately leading to many of the complications of Sickle Cell Disease. Early diagnosis(preferably as a newborn)of Sickle Cell Disease is important to initiate lifesaving health maintanance therapies such as vaccination, pain management, blood transfusions and hydroxyurea. While Sickle Cell trait is not type of disease, harmful complications are possible in extreme environments. Carriers of Sickle Cell Trait should be identified to be cautious of such situations as well as for genetic counseling and family planning. Make your order today: Contact us today! 📞 +25479 2733811 📧 [email protected] #bifourmedicalessentials. #sicklecelldisease. #kenya #mpox
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