Rafa's Moonshot

Did you know? The journey to uncover the STXBP1 protein began with a mystery, and led to a breakthrough that would change neuroscience 🌟 In 1993, a group of scientists set out to explore a protein that was, at the time, completely unknown. This effort led to the discovery of what we now know as the STXBP1 protein, a protein that plays a critical role in the brain's communication network. Initially called Munc18-1 or n-Sec1, this protein was soon identified as essential for the release of neurotransmitters—the tiny chemical messengers that allow our brain cells to communicate with each other. But this discovery was more than just identifying a new protein; it revealed a fundamental mechanism behind how our brain functions. The protein produced by the STXBP1 gene was found to bind to syntaxin, and participate in the regulation of neurotransmitter release at the synapse—the vital junction between nerve cells. At the time, no one could foresee the full impact of this discovery. It wasn’t until 2008 that scientists connected mutations in the STXBP1 protein with severe neurological disorders, like epilepsy. Yet, this finding in 1993 laid the groundwork for all the groundbreaking research that would come later, including our current work at Rafa’s Moonshot. Stay tuned as we continue to explore and push the boundaries of STXBP1 research! 🌍🔬 #RafasMoonshot #STXBP1AwarenessMonth #Neuroscience #ScientificDiscovery #RareDiseases

Did you know? Clalit Health Services is one of the largest healthcare providers in the world. ✨ Last week, we had a fascinating hour discussion with Prof Shay Ben-Shachar, Director Of Precision Medicine and Genomics at Clalit Research. We talked about identifying pathogenic mutations and the critical importance of distinguishing between pathogenic and benign mutations. We emphasized the need to ensure that important mutations are not missed and explored how analytics play a crucial role in this complex and vital work. The data being shared has significant value in understanding the impact of mutations and their likelihood of being pathogenic. 🧬 We also covered the differences between whole genome sequencing and exome sequencing. The main distinctions lie in where mutations occur on the DNA and how they are detected. Additionally, we highlighted the significant work Clalit Innovation is doing in the field of precision medicine and discussed the importance of future collaborations in rare genetic diseases, particularly with STXBP1. Precision medicine tailors treatments to each patient's unique genetic, environmental, and lifestyle factors, moving beyond the "one-size-fits-all" approach. By targeting therapies more precisely, it improves outcomes and minimizes side effects, marking a significant advancement in personalized healthcare. Stay tuned for more updates about our progress at Rafa's Moonshot 💫 Professor Ran Balicer, Reut Ohana #STXBP1 #STXBP1AwarenesssMonth #ClalitInnovation

🌟 September is STXBP1 Awareness Month! 🌟 We’re dedicating the month of September to raising awareness for STXBP1 disorders. Why September, you ask? Because it’s the 9th month of the year, and the STXBP1 gene is located on the 9th chromosome! 🧬 Throughout this month, we’ll be sharing important information about STXBP1, highlighting the latest research developments, and showcasing stories from our incredible community. Join us as we come together to create more awareness for this rare genetic disorder and continue our ongoing research. Stay tuned for updates throughout September! #STXBP1Awareness #GeneticResearch #RafasMoonshot #RareDiseases #STXBP1

🌿 From Herbicide to Life-Saving Medicine! 🌿 Who would have thought that a compound created to fight weeds could end up saving lives? This is the remarkable story of Orfadin (nitisinone), a drug that started its journey as a potential herbicide but became a groundbreaking treatment for hereditary tyrosinemia type 1 (HT-1), a rare and life-threatening genetic disorder. Originally discovered in the bottle brush plant in 1982, nitisinone was developed for its herbicidal properties. But in 1989, Swedish researchers made a surprising breakthrough: they saw potential in nitisinone to treat HT-1, a rare disease that affects the liver and kidneys. This unexpected twist set the stage for a new chapter in medicine. After promising clinical trials, the FDA approved Orfadin in 2002, and the European Union followed suit in 2005. Since then, ongoing innovations have improved the drug's formulation, making it even more effective for HT-1 patients. This story of Orfadin shows the incredible potential of drug repurposing—transforming something ordinary into a life-changing therapy. At Rafa's Moonshot, we draw inspiration from stories like these. Our mission is to leverage drug repurposing to accelerate the search for treatments for STXBP1 and other rare genetic disorders. 🌟 #DrugRepurposing #RafasMoonshot #RareDiseaseResearch #STXBP1 #Innovation

🌟 Did you know? STXBP1 research only began in the 90s. Research into STXBP1 only began around the year 1993, marking a significant milestone in understanding this crucial gene. Early studies, such as the knockout mouse model in 2000, showed no synaptic activity without STXBP1. This was one of the foundational works that laid the groundwork for the discovery of STXBP1's essential role in brain function. Over the years, numerous breakthroughs have followed, including identifying heterozygous variants in humans and launching gene-targeted therapies. At Rafa's Moonshot, we have made tremendous progress in just one year. Our research focuses on innovative drug repurposing strategies and the development of new therapeutic approaches for STXBP1-related disorders. The future of STXBP1 research looks promising, especially with the advent of AI and machine learning. We are utilizing AI to accelerate drug discovery, predict treatment efficacy, and personalize therapies based on individual genetic profiles. This integration of AI is expected to drive significant advancements in understanding and treating STXBP1 disorders, bringing us closer to finding a cure. Follow us to stay updated on our journey towards groundbreaking research and innovative treatments for STXBP1 disorders. 💫 #RafasMoonshot #STXBP1 #RareDiseases #DrugRepurposing

🌟 Disease Models - The Key to Unlocking Treatments for STXBP1 🔗 https://lnkd.in/enED9zEx Our latest blog post, written by Sagi Gidali, explores the critical role disease models play in our mission to find treatments for STXBP1 disorders. From C. elegans worms to cutting-edge human cell systems, these models are helping us unlock new therapeutic possibilities. Read the blog to learn more about how these models are pushing the boundaries of genetic research and making strides in understanding and treating STXBP1 🔬 #RafasMoonshot #STXBP1 #DiseaseModels #RareDiseaseResearch #InnovativeMedicine

🌍 Reflections on the 2024 STXBP1 Researcher Roundtable Meeting 🧬 We were honored to participate in the 2024 STXBP1 Researcher Roundtable Meeting, where leading experts from around the world gathered to push the boundaries of STXBP1 research. This event was a remarkable opportunity to exchange ideas, explore innovative therapies, and discuss the latest findings in the field. Key Takeaways: ✅ Expanding Knowledge of STXBP1: New research is revealing additional functions of the STXBP1 protein, broadening our understanding and opening new avenues for treatment strategies. ✅ Advancing Therapies: Significant progress is being made in developing gene-targeted therapies and repurposing drugs, bringing us closer to effective treatments. ✅ Clinical Trial Readiness: The development of biomarkers and natural history data is critical as we prepare for future clinical trials, ensuring we are ready to measure therapeutic efficacy. We are inspired by the collective determination of the STXBP1 community. Together, we are making strides toward new treatments and, ultimately, a cure. For a detailed overview of the meeting, check out the full recap from the STXBP1 Foundation below 👇 #RafasMoonshot #STXBP1 #RareDiseaseResearch #Innovation #GeneTherapy #Collaboration

Today was a special day as Ella Gordon and Sagi Gidali had the opportunity to give a lecture at Meir Medical Center, speaking in front of Clalit Innovation and the Neurology, and Rheumatology departments. This event was particularly emotional and meaningful for Ella, as she is not only a clinician at Meir but also deeply connected to our mission at Rafa's Moonshot. The lecture was an incredible opportunity to share our story, discuss our groundbreaking research, and reflect on the personal experiences that drive our work. Ella’s dual role as both a clinician and a researcher brought a unique perspective to the conversation. We are grateful for the warm reception and the chance to engage with such an inspiring group of professionals. Moments like these remind us why we are so passionate about our mission. Take a look at some of the photos from the lecture! 📸🎥 #RafasMoonshot #STXBP1 #Innovation #MedicalResearch #Neurology #Rheumatology #PersonalizedMedicine

🌟 Exciting News in the World of Rare Disease Research! 🌟 Congratulations to the n-Lorem Foundation team for their groundbreaking work highlighted in Nature Medicine! This achievement shines a light on the incredible potential of bespoke, patient-specific therapies in the fight against ultra-rare genetic disorders. We are deeply inspired by this progress and the effectiveness of the treatment, which aligns with our mission to develop a tailored ASO (Antisense Oligonucleotide) therapy for #STXBP1. Shoutout to N-Lorem for leading the way—your work is paving the path for others to follow. Let's continue collaborating, innovating, and bringing life-changing therapies to those who need them most. #RareDiseaseResearch #PrecisionMedicine #ASO #RafasMoonshot #STXBP1 #HopeInAction #NLorem

Drug Repurposing: Pros and Cons 🌟 Drug repurposing is a core element of Rafa's Moonshot's strategy to find cures for STXBP1 and other rare genetic diseases. But what are its pros and cons? Pros of Drug Repurposing: ✅ Reduced Development Time: Since the medicine is already on the market, the time required to bring it to a new application is significantly shortened compared to developing a new drug from scratch. ✅ Known Safety Profiles: Existing data on the drug's safety, efficacy, and pharmacokinetics (how the drug moves through the body) from previous clinical trials and real-world use. ✅ Lower Costs: Drug repurposing reduces the cost of development because the extensive research and development required for new drugs have already been completed. ✅ Accelerated Approval: Because the drug has already been through some regulatory approval processes, the path to approval for a new use can be faster, getting treatments to patients more quickly. ✅ Broad Application: Repurposed drugs can potentially be used for multiple indications, expanding their utility and helping more patients with different conditions. Cons of Drug Repurposing: ❌ Limited Scope of Efficacy: Repurposed drugs might not be as effective for the new indication as they are for their original use. They may not fully address the new condition or the specific mechanisms of the disease. ❌ Side Effects and Toxicity: The side effects and toxicity profiles of the drug might change when used for a new indication, potentially leading to unanticipated adverse reactions. Different dosages required for the new condition can also increase the risk of toxicity. ❌ Regulatory Challenges: Even though the drug is already approved for one use, it must undergo additional regulatory scrutiny for the new indication. This process can be lengthy and costly, requiring new clinical trials to ensure safety and efficacy for the new use. ❌ Limited Commercial Interest: Pharmaceutical companies may be less interested in repurposing old drugs due to lower potential for profitability, especially if the original patents have expired or the new market is not lucrative. Understanding these factors is crucial as we navigate the complex journey of drug repurposing to create effective treatments for those affected by STXBP1 and other rare genetic disorders. #DrugRepurposing #RareDiseases #STXBP1 #RafasMoonshot #InnovativeMedicine