GeNeuro SA’s Post

The Alliance for Pulmonary Hypertension supports Cure HHT’s efforts to direct future research for people with pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia (HHT). HHT is a genetic disorder that causes abnormalities of blood vessels, usually resulting in excessive bleeding (known as hemorrhaging). About 13 percent of people with HHT have at least mildly elevated pulmonary artery pressures, which can be caused in primarily two very different ways: high output heart failure or through a gene mutation that causes HHT-associated #pulmonaryarterialhypertension. A worldwide survey is currently under way to locate and collect data from PAH/HHT patients. This is the link to participate: https://lnkd.in/d5NYTkrc https://lnkd.in/dqhsj8Rn

On #rarediseaseday2024 we want to highlight our support for #rarediseaseresearch #rarediseaseday #rarediseases

Today is #RareDiseaseDay, an opportunity to raise awareness for the 300 million people worldwide living with a rare disease, many of whom face a deficiency of safe and effective treatment options.     At Johnson & Johnson Innovative Medicine, we’re committed to fostering change for the rare disease community through cutting-edge science.     This includes our efforts to advance investigational gene therapies for genetic retinal diseases like X-linked retinitis pigmentosa (XLRP), for which there are currently no approved treatments. We recently announced our receipt of Breakthrough Therapy Designation (BTD) in China for our investigational treatment option.     We’re also exploring novel therapies for pulmonary arterial hypertension (PAH); this past year, we submitted the first and only single tablet combination therapy in for PAH for approval. This novel therapy has the potential to optimize disease management and fulfill a significant unmet need in supporting recently updated treatment guidelines that call for initial or early combination treatment.    Every person deserves to have their needs met, no matter how rare their condition. Today and every day, we stand firm in our commitment to build a healthier world for patients and their families.    #MyCompany #GeneTherapy 

🌍✨ Celebrating World Sickle Cell Day on June 19th, 2024. 🩸🔬 Today, let's pause to acknowledge the strength of individuals living with sickle cell disease and emphasize the ongoing need for research, treatment, and support efforts. Did you know that last year in December 2023, the sickle cell community achieved a huge milestone with the FDA approval of LYFGENIA (lovotibeglogene autotemcel), a groundbreaking gene therapy that was approved in December, 2023. This one-time treatment targets the underlying genetic cause of sickle cell disease, offering hope to patients aged 12 and older who suffer from vaso-occlusive events. Sickle cell disease, a genetic disorder affecting red blood cells, transforms normally shaped cells into sickle-like forms, leading to severe anemia, infections, pain and other complications. LYFGENIA utilizes the patient's own stem cells to introduce functional copies of the beta-globin gene, promoting the production of anti-sickling hemoglobin. This innovative approach holds promise in reducing or halting vaso-occlusive events, transforming lives. Moreover, in the realm of liver health, advancements in gene-targeted therapies for MASH (Metabolic dysfunction-associated steatohepatitis) are the future of revolutionizing treatment. At TBMR, we are proud to offer Sano genetics screening, tailored for patients with a history of MASH and associated risk factors. Together, we are advancing personalized medicine, enhancing outcomes, and supporting healthier futures. Call us today to learn more at 727-724-3316 or visit us at https://lnkd.in/ehjP7-N4 #WorldSickleCellDay #WSCD2024 #HealthEquity #SickleCellAwareness  #GeneTherapy #HealthInnovation #ShinetheLight #LiverHealth #PreventitiveCare #TBMR #FreeFibroscan #MetabolicHealth #Research #Health #Nutrition #Edcuation #ClinicalResearchTrials #Wellness #Community #Diabetes #Clearwater #Tampa #Largo #MASH #MASLD #HealthyLiver #Hyperlipidemia #Trials #Studies #Obesity #TampaBayMedicalResearch #Health #Education #PublicHealth

This week on Care for Rare, we spotlight Beta Thalassemia! Thalassemias represent a group of rare genetic blood disorders disrupting the normal production of alpha or beta globin chains in hemoglobin. Beta Thalassemia, specifically, occurs when there’s a partial or complete loss of the Beta globin chain, leading to challenges like ineffective erythropoiesis, premature destruction of red blood cells, and persistent anemia. In Part I of our exploration, we unravel the fundamentals of this condition, elucidating its causes and the profound challenges it poses. In the second part, we’ll delve into the latest therapeutic advancements and news, offering hope and insight into ongoing developments. 📁Subscribe to get the weekly free newsletter on MedNess Diagnostics, Metabolic Diseases, Disease Disruptors, Care for Rare, and MedNess Neuro delivered directly to your inbox at https://lnkd.in/gBN7dVsD ✍️ Care for Rare Team Malini Gupta, Ph.D., Author Shalini Roy Choudhury, PhD & Anusha Jayaraman, PhD, Managing Editors Siftjit Kaur, PhD & Himanshi Agarwal, PhD, Social Media Managers

Why women are more affected by autoimmune diseases is now clarified! The culprit is the gene XIST (technically a non-coding RNA). XIST is in charge of the random suppression of the extra X chromosome, and for such reason, it is only expressed in women. After cell damage, XIST can become the target of autoimmune attacks only in females. This knowledge opens avenues for new therapies for MS, NMO, and other autoimmune diseases. #MS #autoimmunedisease #nmo https://lnkd.in/diyTketA

A recent retrospective study conducted at the inherited retinal disease (IRD) clinic at the University of Minnesota Health System sheds light on the clinical characteristics and genetic variants present in a cohort of Leber congenital amaurosis (LCA) patients. View the complete article below ⤵️ #inheritedretinaldisease #eyedisease #genetictesting

Pediatric #Cardiomyopathy is a chronic disease of the heart muscle that affects the ability of the heart to effectively pump blood throughout the body. This September, support the Children's Cardiomyopathy Foundation in recognizing Children’s Cardiomyopathy Awareness Month. Together, we’re shining a light on this complex, rare, and potentially life-threatening disease. We are committed to working closely with patients, medical professionals, and the scientific community to bring renewed hope to patients and their families as we seek gene therapy cures for those affected by devastating genetic diseases. Learn more about our ongoing clinical trials in Danon disease and PKP2-arrhythmogenic cardiomyopathy (ACM): https://lnkd.in/ez42wgbj. #GeneTherapy #RareDiseases #CCAM

A new study of Fortea et al. analyzing large multicenter cohorts of subjects with #AlzheimerDisease biomarkers confirmed that #APOE4 homozygosity is a major genetic cause of AD, accounting for 2% of the overall population (!) and 15% of all AD cases. Thus, APOE4 represents a genetically validated drug target for AD. https://lnkd.in/e9XKM-ia Next, how to drug APOE4?

Genetic landscape and clinical outcomes of patients with BCOR mutated myeloid neoplasms https://lnkd.in/gJ4BsdXg