Longboard Pharmaceuticals’ Post

As Spinal Muscular Atrophy awareness month comes to an end, join us in spreading knowledge and support for Spinal Muscular Atrophy (SMA), a rare genetic disorder affecting the motor neurons in the spinal cord. Let's come together to make a difference for those living with SMA and their families. What is SMA?  SMA is a condition that weakens muscles and limits physical movement, impacting daily activities and overall quality of life. But with awareness and advancements in medical research, we can make strides towards a brighter future for those affected by SMA. How can you help?  1️⃣ Share this post to educate your friends and family about SMA.  2️⃣ Support organizations like Cure SMA, that are working towards SMA research and patient care.  3️⃣ Show your love and empathy by connecting with individuals and families living with SMA. Let's be a source of strength and inspiration for the SMA community! Get involved: https://bit.ly/3PhfEHf #SMAAwareness #StrengthInUnity #RareDiseaseSupport #TogetherForSMA

🧠Epilepsy is one of the most rampant neurologic diseases worldwide. 📊In this cross-sectional study, members of our organization try to uncover the intricate pathophysiologic mechanisms behind epilepsy. 📌Study: "Advances in understanding the pathogenesis of epilepsy: Unraveling the molecular mechanisms: A cross-sectional study" 📌Link to the full paper: https://lnkd.in/dYfnG3br 👉If you also want to contribute to development of medicine you can join our organization and following us on all social media platforms: https://lnkd.in/dEqA7_yx #epilespy #antiepilepticpharmacotherapy #epileptogenesis #genetherapy #precisionmedicine

Neurofibromatosis (NF) is a highly unpredictable genetic disorder that has no cure. It manifests differently from patient to patient which can make treatment difficult. Neurofibromatosis Awareness Month drives awareness, education, and support that will one day lead to more effective treatments and a cure. To learn more about how we take extra special care of our NF1 patients, visit https://caremedsp.com/nf/. #NeurofibromatosisAwarenessMonth #WorldNFDay

Kit Church, TBRS Community Research Coordinator, presented the Overgrowth Syndromes Alliance poster "Introducing the Overgrowth Syndromes Alliance (OSA): A consortium to identify shared biological pathways and therapeutic targets" at the Chan Zuckerberg Initiative Science in Society 2023 Annual Meeting: Advancing Patient-Driven Research in Rare Disease (September 20-23, 2023). The poster includes preliminary results of the OSA Patient Priorities Survey, a short, online survey to gather valuable insights on the greatest needs of individuals living with an overgrowth and intellectual disability syndrome. Survey participants will help shape the future of research and direct it toward what matters most to people with these complex, genetic disorders. The results will also be presented at the National Organization for Rare Disorders Summit and the TBRS Summit this October. OSA is driving advancements in areas that truly make a difference! If you aren't able to see the results in person, please contact us and we'd be happy to share them: [email protected]. If you are a caregiver or a person diagnosed with an overgrowth and intellectual disability syndrome and would like to participate in the OSA Patient Priorities Survey, please email: [email protected] #CZI #NORD #overgrowth #raredisease #medicalgenetics

📜 Explore evidence-based guidelines by EFIC, EAN, and NeuPSIG on screening questionnaires and diagnostic tests for neuropathic pain (NeP). 💡 Read the full paper via the following link: https://brnw.ch/21wEPyS #NeuropathicPain

🦋 Spreading Hope for Spinal Muscular Atrophy Awareness 🦋 Spinal Muscular Atrophy (SMA) may be rare, but its impact is profound. This genetic disorder affects motor neurons in the spinal cord, leading to muscle weakness and, in severe cases, difficulty breathing and swallowing. But amidst the challenges, there's hope. Advances in research and treatment offer promise for those living with SMA. Early diagnosis, access to innovative therapies and comprehensive care can make a world of difference. Let's shine a light on this condition. Let's educate, advocate, and support those affected. Together, we can ensure that every individual with SMA receives the care, resources, and opportunities they deserve. 💙🦋 #SMAAwareness #HopeForSMA #RareDiseaseAwareness

A new systems-level approach, published in JOR Spine, sheds light on the contribution of epigenetics to Marfan syndrome (MFS) and offers a plausible explanation for the complex phenotypes that are linked to reduced lifespan in untreated MFS patients. #ORSSMC https://buff.ly/4bCxDAs

Heading to Lisbon this week to meet with colleagues, friends and business partners at the AD/PD meeting. If you are also joining this great conference, please come find me and get more information about the INDRC - International Neurodegenerative Disorders Research Center and let' s collaborate! #science #neurodegenerativediseases #cooperation #alzheimersawareness

📜 Explore evidence-based guidelines by EFIC, EAN, and NeuPSIG on screening questionnaires and diagnostic tests for neuropathic pain (NeP). 💡 Read the full paper via the following link: https://lnkd.in/dtdYTBar #NeuropathicPain

Treatment of #NeuropathicPain is still not as effective as we would expect, especially if patients have been experiencing #pain for a long time. We need to identify neuropathic pain as early as possible using validated #screening tests and diagnostics tools to set up a #therapy that will have more chances to work. As in most cases, the sooner we get a diagnosis the better it will be the outcome. Thanks to European Pain Federation EFIC for the restless commitment to understanding the issues about pain and to disseminating the experts panel’s findings and recommendations. 💡 Read the full paper at the following link: https://brnw.ch/21wEJJe #QualityOfLife #PainTherapy #GlobalHealth #SupportiveCare