Genetic Support Foundation’s Post

From multiple myeloma to metabolic disorders, hemoglobinopathies, genetic, autoimmune and infectious diseases, Sebia’s portfolio is designed to address clinical needs and improve laboratory efficiency and safety. https://lnkd.in/d4D3udk6 #sebia #sebiaromania #CDT #HbA1c #myeloma

Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. Genetic testing may be used to look for carriers of mutated CFTR genes and to screen relatives of people who have cystic fibrosis. #cysticfibrosisawareness #chroniclungdisease #genetictesting #genetictesting

**Awareness Alert!** Did you know many people might be living with a rare kidney disease called ADTKD and not even know it? It often passes unnoticed, affecting families generation after generation 🧬👨👩👧👦 🔍 We're partnering with the Wake Forest Rare Inherited Kidney Disease Research Team to identify these hidden cases. If your family has a history of unexplained kidney problems, it’s time to act. Visit https://lnkd.in/gj4Yfqxy to access a simple form for genetic testing. **it’s free if you qualify!** Let's find the undiagnosed and bring them hope!

🌟 As patient advocates, we are searching for tens of thousands of genetic kidney patients who do not know why their kidneys failed! Nor do their nephrologists. It's surprising that an estimated 25% of dialysis patients and 10% of nephrologist patients don't know why. Like Mike's family, our excellent nephrologists at the Mayo Clinic didn't know what we had either after twenty-three years -- thinking it was a rare form of PKD. Sadly, I've lost my dad at age 43, angel sister, and optimistic brother from MUC1 (ADTKD) rare kidney disease, and twenty-one of our next generation are at risk too. Yet, there is finally MUCH HOPE from a promising compound that may HALT these diseases. Our foundation is working closely with the Broad Institute of MIT & Harvard, its affiliate, and Wake Forest Medical Center to help take it to the FDA. To have a successful Clinical Trial, we need patients to find hundreds of UMOD and MUC1 patients in the next several years. Please contact us at RAREKIDNEY.ORG. WE NEED YOUR HELP: Please (1) REPOST this post; (2) FOLLOW & LIKE us; and (3) Contact us to hear more. Many thanks! 🙏 Rich

Did you know that 72% of rare diseases are genetic? Relatively common symptoms of certain rare diseases often lead to misdiagnoses and delays in treatment – but fortunately, the emergence of genetic testing has the power to change that. Early genetic testing can help patients determine the underlying genetic cause of their disease, shortening their diagnostic journey. In turn, patients can then determine eligibility for clinical trials, availability of appropriate treatments, and an accurate timeframe on vision loss to support life-planning. At Johnson & Johnson Innovative Medicine, we��re working to increase access to genetic testing for rare inherited retinal diseases like X-linked retinitis pigmentosa (XLRP), a severe form of RP that typically starts in adolescence and ultimately results in permanent blindness over decades. This #RareDiseaseDay, and every day, we are committed to empowering patients with answers about their disease – regardless of how rare – so that they have more control over their future. #JNJRetina

🌍 World Mitochondrial Disease Week (September 16th to 22nd) is a time to raise awareness about this rare yet critical condition. 🔬 Did you know that everyone has mitochondria in their cells? These tiny powerhouses provide 90% of the energy needed to sustain life. But when mitochondria don’t work properly, it can lead to life-threatening conditions known as mitochondrial diseases (Mito). 💡 1 in 5000 children are born with a severe or life-threatening form of Mito, and the symptoms can vary widely—from muscle weakness and fatigue to heart problems, developmental delays, and digestive issues. Even individuals with the same genetic mutation may experience very different symptoms, making awareness and early diagnosis all the more critical. 🌟 Revitalise your energy and raise awareness of mitochondrial diseases by sharing this post! Early detection, genetic counseling, and personalized management plans can help those affected live fuller lives. At Mirror Gene, we are committed to supporting families through genetic counseling, offering guidance and personalized risk assessments for those facing rare genetic conditions like Mito. Let’s raise awareness this World Mitochondrial Disease Week and stand together for better support and care for patients and their families. 📞 Reach out to us today: +91 9790704324 🔗 www.mirrorgene.com #MitochondrialDisease #MitoAwareness #GeneticCounseling #ILLUMINATEtommorow #RareDiseases #Healthcare #Mitochondria #EarlyDiagnosis

Rare Disease Day Genetic Alliance UK https://lnkd.in/gXKAv7EA Check out this great article discussing the use of AI in early cancer detection. This offers hope for individuals and families affected by rare diseases. Some data points ..... > 72% of all rare diseases are genetic > 70% of genetic rare diseases start in childhood > The population of people living with rare diseases is equivalent to the population of the world's 3rd largest country. Learn more at rarediseaseday.org #RareDiseaseDay #GeneticAllianceUK

If you are attending #ACAAI2024, join Dr Walter for a guide to interpreting genetic testing reports, which are critical for diagnosing rare diseases like APDS*. APDS is an underrecognized primary immunodeficiency. For more information about APDS, visit booth #513 or the website https://shor.by/2E2m *Activated PI3k delta syndrome #APDS #ACAAI2024 #primaryimmunodeficiency

May is Inherited Retinal Disease (IRD) Genetic Testing Awareness Month. This month highlights the critical importance of genetic testing for early diagnosis and prevention of vision loss at any age. By supporting rare disease clinical trials with mobile eye assessments, 20/20 Onsite accelerates progress in understanding IRDs and developing treatments while prioritizing patients’ needs and comfort. Learn more about IRDs, their risk factors, and the essential role of genetic testing for detection from Prevent Blindness: https://hubs.ly/Q02ykb1R0 #inheritedretinaldisease #clinicaltrials #raredisease #IRD #lifesciences

Genetic testing is essential for diagnosing and managing bleeding disorders. It involves analyzing a person's DNA to identify mutations or changes in genes that cause conditions like Hemophilia or von Willebrand Disease. 🔍 Why It's Important: - Accurate Diagnosis: Helps determine the specific type and cause of a bleeding disorder. - Personalized Treatment: Guides healthcare providers in creating tailored treatment plans. - Family Planning: Informs family members about their genetic risks and options. 🔗 Learn More: Explore how genetic testing can benefit patients and families by contacting us at 716-896-2470 #GeneticTesting #BleedingDisorders #WNYBloodCare