European Genome-phenome Archive (EGA)’s Post

📣 NEW! LightCure Consortium receives Horizon Europe Grant. 💡 Congenital Hyperinsulinism International (CHI) is excited to announce we are part of a new 11-member research consortium called LightCure. The LightCure Consortium is developing a targeted photodynamic therapy, that one day could be a promising treatment for congenital hyperinsulinism (HI). 💙 This project is made possible by a 72-month-long grant of just over €8.2M from the European Union research arm Horizon Europe and encompasses CHI’s work to strengthen patient engagement and raise worldwide awareness of HI and its myriad challenges. 🔗 You can find more information about this exciting project at https://lnkd.in/eVq-2Faa #hyperinsulinism #raredisease #congenitalhyperinsulinism #hypoglycemia | Hyperinsulinism | Congenital | HI | Hypoglycemia | Rare Disease

🔬💡📚 #TARGETLD provides invaluable insights into the clinical evolution of #liverdiseases, from early-stage #MASLD to advanced #cirrhosis. Our comprehensive data from our liver disease registries, including #TARGETNASH, has led to 65+ publications that address key challenges in #drugdevelopment including tracking #diseaseprogression, validation of clinical definitions, and exploring non-invasive assessments to understand disease risk which improve our collective understanding and care for patients suffering from chronic liver diseases. To watch more presentations of our liver disease research, click the link: https://lnkd.in/efGHrwag #liverdisease #RealWorldData #RealWorldEvidence #ClinicalResearch  #Hepatology

September is Sickle Cell Disease Awareness Month. This inherited genetic condition affects more than 100,000 people in the United States and 20 million people worldwide, with a significant impact on communities of color. Too often, those living with Sickle Cell Disease face barriers to quality care, early diagnosis, and effective treatments. Throughout September, Avalon joins the National Heart, Lung, and Blood Institute and the Centers for Medicare & Medicaid Services in raising awareness of solutions that improve healthcare quality, access, outcomes, and equity for all people affected by Sickle Cell Disease. Learn more about ongoing Sickle Cell Disease Research: https://ow.ly/NA4J50TjsmB #GetToKnowSickleCell #SCD #AvalonHCS #GeneticTesting

I’m thrilled to be attending International Symposium #proCardio2024, a leading event focused on advancing the fight against #cardiovascular diseases (CVDs). With #CVDs being the number one cause of death globally, accounting for millions of #lives each year, there is an urgent need for #innovation and collaboration to reduce this burden. At #RocheDiagnostics, we are at the forefront of innovation in cardiovascular #healthcare. This conference will spotlight groundbreaking developments, including novel #biomarkers and #AIdriven diagnostic tools. These advancements have the potential to #revolutionize early detection and personalized treatment for #heartfailure, #myocardialinfarction, and beyond. It’s exciting to see how Roche is driving transformative solutions that will impact not only clinical outcomes but also policy-making in the fight against heart disease. #proCardio2024 #CVDInnovation #RocheDiagnostics #CardiovascularHealth #HealthcareInnovation #proCardioForum

The LAM Foundation strongly supports the FDA’s Rare Disease Innovation Hub, highlighting the need for women-focused rare disease research, patient-centered approaches, and faster access to life-saving therapies. Together, we can drive equity in rare disease treatments for women. Visit our blog to read the full list of recommendations. https://ow.ly/R9Fw50UvZc7

Sharing important health care awareness piece from leading 🦄 biotech, Inflammatix. Appreciate all the innovative work to solve this largely under publicized health care issue - sepsis- responsible for the deaths of more than 💯K annually. #HealthcareInnovation

It’s World AMR Awareness Week! Drug-resistant infections take an enormous toll on public health, human life and the economy. Early detection is not just about improving outcomes; it's about preventing the misuse of antimicrobials. Both over treatment and delayed treatment are major contributors to antimicrobial misuse, accelerating antimicrobial resistance (AMR). At Inflammatix, we’re joining the Union for International Cancer Control (UICC) and the global movement to tackle AMR by advancing rapid, AI-driven diagnostics for acute infections and sepsis. Together, we can combat AMR by ensuring antimicrobial are used only when necessary. https://shorturl.at/MGsD8 #WAAW #AMR #sepsis #diagnostics #HealthcareInnovation

“The journey to healing could not begin until I had an accurate diagnosis.” Rhonda’s story is only one of the millions of examples that highlight the importance of having access to timely and accurate diagnosis of cardiovascular diseases (#CVD). Changing the burden related to this non-communicable disease requires increased investments in establishing national CVD strategies focused on prevention and early detection. This should include expanding access to cardiac biomarkers and increasing workforce training to enable the effective use of existing and new technologies that improve outcomes for patients and health systems. It's fantastic to see the Council of the European Union encouraging European countries to prioritise prevention, early detection, treatment and rehabilitation in the recently approved draft for an EU CVD Action Plan! I really hope to see similar initiatives in other regions as well. This way we can ensure that stories like Rhonda's are prevented from happening! #HeartHealth #CVD #ActOnNCDs

A full-slide deck on Karakaş et al’s observational cohort study on the differences in efficacy of secukinumab by BMI group in #axSpA is now available on the Immune-mediated Inflammatory Disease Forum. This study found that there was no significant difference in efficacy between BMI groups. Head to the #IMIDforum to access this valuable free resource and more! https://ow.ly/SxWu50RvE8L #axSpA #secukinumab #obesity

Sepsis and newly diagnosed Multiple Myeloma (MM): a great risk, associated with poor outcomes. A retrospective study by Desantis V., et al. observed the relationship between clinical conditions, the disease stage, the type of germ involved, and the PFS in this specific cohort of patients. Full: https://buff.ly/4eNblhv #MM #MultipleMyeloma #Sepsis # PFS #NewlyDiagnosed