Rafa's Moonshot

🧬 What makes whole-genome sequencing a game-changer in STXBP1 research? Whole-genome sequencing (WGS) is transforming STXBP1 research by providing a comprehensive view of a person’s DNA. Acting like a genetic detective, WGS scans the entire genome to uncover mutations in the STXBP1 gene. These can include: 1️⃣ Small changes in DNA letters 2️⃣ Missing or extra pieces of DNA 3️⃣ Larger rearrangements of genetic material This precise understanding helps researchers pinpoint the genetic differences contributing to STXBP1-related disorders. By connecting genetic changes to patient symptoms, WGS helps scientists uncover how specific STXBP1 mutations shape development and health. It also reveals previously unknown variations in the gene, broadening our understanding of this complex disorder. Beyond pinpointing mutations, WGS offers a big-picture view of how STXBP1 interacts with other genes, shedding light on brain function and development. This powerful tool drives the development of personalized treatments and targeted therapies. By decoding the genetic mechanisms of STXBP1-related disorders, WGS is unlocking breakthroughs in care and opening doors to future genetic therapies. ✨ #STXBP1Research #Genomics #PrecisionMedicine #RafasMoonshot

What makes the brain so hard to treat? 🧠 The blood-brain barrier (BBB) is both a marvel and a challenge. This highly selective barrier keeps harmful substances out of the brain while regulating the flow of nutrients and molecules. But its design, crucial for brain health, also makes it incredibly difficult for therapeutic drugs to reach their targets. In central nervous system drug development, the BBB is one of the biggest hurdles. It blocks most drugs from crossing into the brain, actively pumping out many therapeutic compounds, and even metabolizing some treatments before they can take effect. While these defenses are vital, they make finding effective treatments for brain diseases a difficult task. With STXBP1-related disorders, the BBB presents a unique challenge. It is complicated to develop effective treatments, as potential therapeutics must not only address the STXBP1 dysfunction but also overcome the BBB's inherent limitations in drug delivery to the brain. Researchers are currently exploring groundbreaking solutions - from modifying drug molecules to make them more BBB-permeable, to using nanoparticles as carriers to sneak treatments past the barrier. As research progresses, understanding how STXBP1 influences BBB permeability may not only improve treatment strategies for STXBP1-related disorders but also provide valuable insights for overcoming BBB challenges in other neurological conditions too. #CNSDrugDevelopment #BloodBrainBarrier #InnovativeMedicine #RafasMoonshot

A biologist, a computational chemist, a DevOps engineer, and a cybersecurity entrepreneur walk into an Italian restaurant… Sounds like the start of a joke? It’s the kickoff of an exciting new project. Stay tuned! 😊 P.S Can you guess who’s who at the table? Hila Ben-Moshe Efrat Ben-Zeev Sagi Gidali #drugdiscovery

✨ What inspires and informs you most? ✨ We're always looking to connect with our community in meaningful ways and would love your input on the content that resonates with you. To better serve you, we'd love to know what content you'd like to see more of. Vote in the poll or share your thoughts in the comments if there’s another topic you’d like us to cover. Thank you for helping us continue to grow and make an impact. We can’t wait to hear from you! #STXBP1Awareness #CommunityEngagement #RafasMoonshot

🎉 We are thrilled to announce that Rafa's Moonshot has reached 400 followers! 🎉 Your support is invaluable as we work towards a future where pioneering research leads to meaningful treatments and, one day, a cure for STXBP1 disorders. Thank you for being part of our mission to make a difference in the lives of those affected by rare genetic disorders. 🌟 #ThankYou #CommunityEngagement #RafasMoonshot

What does it take to turn research into real-world impact? ✨ Yesterday, our Scientific Director, Dr. Hila Ben-Moshe, visited Dr. Omer Revah's lab at the The Hebrew University of Jerusalem's Veterinary Faculty, getting a closer look at their groundbreaking work. During her visit, Dr. Ben-Moshe explored the lab's state-of-the-art facilities and gained a deeper appreciation for Dr. Revah's research environment. She observed advanced patch-clamp equipment in action, witnessing live recording experiments firsthand. Additionally, she had the opportunity to see our iPSC-derived cells and organoids, which was both exciting and inspiring. In our collaborative project, we are using Omer’s innovative human brain organoid platform to better understand STXBP1-related disorder (STXBP1-RD). This platform allows us to create a more accurate model of the disorder by using human brain organoids, which mimic the development of a baby’s brain late in pregnancy. These organoids contain mature, functional neurons that are very similar to those in the human brain, helping us study key features of STXBP1-RD. This human-based model will provide crucial insights into the disorder and help us develop targeted therapies. Seeing Dr. Revah’s work up close brings new ideas and energy to our shared mission. Together, we’re moving closer to meaningful breakthroughs for the STXBP1 community. #STXBP1Research #ScientificCollaboration #InnovativeMedicine #RafasMoonshot

✨ In Just 5 Years: STXBP1 Therapeutic Programs Soar from 0 to 16 ✨ 🔍 What if the cure for STXBP1 disorder was just a few years away? With the rapid progress in therapeutic programs in recent years, this future might be closer than we think. In 2019, there were no industry-supported therapeutic programs for STXBP1 disorders. Just 5 years later, that number has grown to over 16 therapies in development, with multiple programs progressing into advanced stages, including clinical trials. The STXBP1 Foundation’s Fast Forward 3-Year Plan (2023–2025) has been instrumental in accelerating these developments. With four key pillars—Propelling Precision Therapies, Preparing for Clinical Trials, Building Biopharma Interest, and Supporting Patients Today—the plan ensures that every aspect of research, development, and patient care moves forward cohesively. Rafa's Moonshot is currently involved in advancing three innovative programs, including:  ✅ Drug repurposing ✅ Gene-targeted therapies like Antisense oligonucleotides (ASOs) ✅ A novel compound With this momentum, the potential for transformative treatments feels closer than ever. The coming years will pave the way for therapies that could redefine possibilities for those living with STXBP1 💫 #STXBP1Awareness #RareDiseaseResearch #InnovativeMedicine #RafasMoonshot

🧠 Tracking Brainwaves for Better Care: The Promise of EEG in STXBP1 Disorders Imagine if tracking brainwaves could help us diagnose and treat STXBP1 disorders more accurately. Researchers are finding that EEG—a safe, non-invasive test that records brain activity through small electrodes placed on the scalp—may hold the key to better understanding and managing STXBP1 syndrome. Recent research has revealed specific brain activity patterns unique to STXBP1 syndrome. Patients with this condition show increased low-frequency brain activity and certain patterns over time, along with a decrease in the balance between brain activity that excites or inhibits responses (known as the excitation/inhibition, or E/I, ratio). These distinct EEG patterns are so characteristic that machine learning models using these features can predict a diagnosis of STXBP1 with high accuracy (AUC=0.91) compared to healthy controls. Another promising finding is the "alpha-delta ratio" in EEG readings, which is consistently lower in people with STXBP1-related epilepsy. This ratio also varies between patients with different types of STXBP1 genetic variants. These discoveries not only give us a clearer understanding of the disorder but also point toward ways to develop more precise diagnostic tools and even personalized treatment approaches. By identifying these EEG changes, researchers hope to track how STXBP1 progresses, develop more effective biomarkers, and prepare for clinical trials. This work offers real hope for families and patients, paving the way for more targeted care and new treatment options for those affected by STXBP1 disorders. Read the full research paper here 👉 https://lnkd.in/ewUvp9WG #EEGBiomarkers #STXBP1Awareness #BrainHealth #RareDiseaseResearch

🌟 The Inspiring Story of Mila Makovec and the Development of 'Milasen' 🌟 Can one family’s journey change the future of medicine? Mila Makovec's story shows how ASOs made a unique, life-changing treatment possible. At just six years old, Mila was diagnosed with Batten disease, a devastating genetic disorder with no cure. Her health was declining rapidly, but her mom Julia Vitarello refused to give up. Her relentless search for answers brought her to Dr. Tim Yu and his team at Boston Children's Hospital, who embarked on an extraordinary journey to develop a custom drug, "milasen," designed to fit Mila’s unique genetic mutation. Remarkably, within just one year, they crafted this groundbreaking ASO therapy—the first-ever single-patient genetic treatment—a milestone in the world of precision medicine. Unlike traditional therapies, ASOs target RNA to either block or modulate gene expression, offering a precision that’s unmatched by conventional drugs. ASOs can adjust gene activity, making them a promising option for rare, complex genetic conditions. They’re designed quickly and can be tailored precisely, which is critical for time-sensitive, progressive diseases like Batten. Mila’s story shows the potential of ASOs to revolutionize treatment for rare genetic disorders. As technology advances, we’re on the brink of creating faster, more affordable personalized treatments. What was once unthinkable—designing a treatment tailored to a single patient’s DNA—may soon become standard practice for rare and ultra-rare diseases. At Rafa’s Moonshot, stories like Mila’s inspire us every day, reminding us that personalized medicine is within reach, and we’re proud to be part of this exciting chapter in healthcare. #PrecisionMedicine #ASO #GeneTherapy #RareDiseases #RafasMoonshot

🌟 Researcher Spotlight: Dr. Lior Dor 🌟 When his son was diagnosed with STXBP1 disorder, Dr. Lior Dor transformed his career into a mission to help families like his own. Get to know Dr. Dor, our featured researcher of the week. Dr. Dor is a dedicated researcher and advocate for rare disease communities, especially STXBP1-related disorders. His personal journey into rare disease research began when his eldest son, Ran, was diagnosed with STXBP1 disorder. Driven by this life-changing experience, he and his wife founded Rare Smile, Israel’s STXBP1 foundation, to foster research and support for families affected by this condition. Through Rare Smile, Lior is leading multiple projects, including the development of a mouse model and patient-derived induced pluripotent stem cell (iPSC) models, both vital tools in the search for effective treatments. 🎓 Professionally, Dr. Dor holds a PhD in Biology from the The Hebrew University of Jerusalem and brings his deep expertise to his role at ALYN Hospital, where he supports families affected by rare genetic disorders. His work at ALYN involves researching each child’s condition, providing detailed guidance to families, and connecting them with specialists and resources. 🧬 Lior’s background includes postdoctoral research at Tel Aviv University in collaboration with Ben Gurion University, where he focused on iPSC models for rare neurological disorders. His work has also extended to agricultural genomics. This unique blend of experiences has equipped him with a broad perspective on science, technology, and patient advocacy. ✨ Through both Rare Smile and his research, Dr. Dor is a driving force for innovation and hope, working tirelessly to advance our understanding of STXBP1 and to create a brighter future for his son and others in the rare disease community. #STXBP1 #ResearcherSpotlight #RareSmile