(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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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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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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May is Cystic Fibrosis (CF) Awareness Month! Did you know some of these facts about CF? Cystic Fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. Approximately 40,000 children and adults in the US are living with CF. Around 1,000 new CF cases are diagnosed each year. More than 75% of CF patients were diagnosed by age 2. Today, more than half of the CF population is over the age of 18. Life expectancy with CF has improved greatly with new therapies, but there is still no cure. #CFAwarenessMonth #CysticFibrosis #PatientCare
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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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On Rare Disease Day, we shed light on the pressing issue of underdiagnosis and misdiagnosis in conditions like Arginase 1 Deficiency (ARG1-D), a rare genetic metabolic disorder with severe health implications. Read more about this challenge and our commitment to raise awareness and improve education of rare diseases. Read the full article here: https://lnkd.in/e4YChSVN #RareDiseaseDay #ARG1D #Immedica #rarediseases #raredisease #underdiagnosis #misdiagnosis
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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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Specialty Pharmacy Expert & Consultant with a focus on clinical and operational program development, accreditation, compliance, and patient safety
May is CF awareness month! Learn more about CF below!
May is Cystic Fibrosis (CF) Awareness Month! Did you know some of these facts about CF? Cystic Fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. Approximately 40,000 children and adults in the US are living with CF. Around 1,000 new CF cases are diagnosed each year. More than 75% of CF patients were diagnosed by age 2. Today, more than half of the CF population is over the age of 18. Life expectancy with CF has improved greatly with new therapies, but there is still no cure. #CFAwarenessMonth #CysticFibrosis #PatientCare
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Help your patients better understand their risk for or cause of a cardiovascular disease. Genetic testing can help identify those at a higher risk for cardiovascular concerns, can potentially improve diagnosis, and offer a better understanding of treatment opportunities and symptom management. Our PGmax™ - Comprehensive Congenital Heart Disease Panel can be ordered on a genome or exome platform, allowing you to easily reflex to the PGnome® or PGxome® test, depending on which platform you order the test. Learn more: https://ow.ly/lMJS50QypxY #heartmonth
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Delays in diagnosing Fabry disease result in delayed treatment and worse outcomes by association. Enhance your understanding of this rare genetic disease and learn at your own pace with our interactive module on The France Foundation: https://bit.ly/9244F
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