Buffalo Initiative

Today is #RareDiseaseDay, and I’m headed home after spending the week at the #BioNeuroscience meeting in Amsterdam. This is an annual summit of CEOs, global pioneers, investors and decision-makers in CNS neuroscience drug development. Kudos to the organizers (Christian Suojanen Amsterdam UMC - Amsterdam Neuroscience Broadreach Global) for ensuring patient-driven innovation for rare neurodevelopmental disorders was on the agenda. I’m always grateful for the opportunity to speak about the pivotal role patient groups play in accelerating research and improving care for our communities in forums like this one. But being able to share the story of the CACNA1A Foundation and the Buffalo Initiative alongside women who have inspired, guided and supported me on this journey since the very beginning was particularly meaningful for me (thank you Yael Weiss Allyson Berent Charlene Son Rigby). Getting the chance to spend time with Hans Schikan Juan Carlos Lopez, Vikram Sudarsan (Engrail Therapeutics) and Robert Thorne (Denali Therapeutics) was icing on the cake. While I missed the rare advocacy activities in DC this week, I know telling our stories of determination, urgency and progress in the face of daunting odds had an impact here. Onwards!

Available now at: https://lnkd.in/gr6em5Mr Thanks to Sunitha Malepati, CACNA1A Foundation, The Buffalo Initiative, OMSLIFE FOUNDATION, Principled Research Resources, L3C, and of course our host, Richard Juknavorian of Meeting You Where You're At Join us for a compelling episode of Rare Awareness Radio as we welcome Sunita Malipadi — attorney, advocate, and mother — who shares her powerful journey through the rare disease world. ?? Sunita's daughter was born with a mutation on the CACNA1A gene, leading to developmental challenges and a two-and-a-half-year diagnostic odyssey. Instead of giving up, Sunita turned her family’s experience into action. She joined the CACNA1A Foundation as vice president and founded the Buffalo Initiative, leading the charge in patient-driven rare disease research. For more information, please visit www.cacna1a.org/ In this episode, Sunita talks about: ?? The emotional rollercoaster of their diagnostic journey. ?? Why patient-led advocacy is essential for driving innovation. ?? The mission of the Buffalo Initiative to tackle the 'valley of death' in genetic medicine. ?? Her hopes for a more equitable and accessible research ecosystem. ?? Follow us for more inspiring stories from the world of rare disease advocacy. #RareAwarenessRadio #RareDisease #GeneticMedicine #CACNA1A #PatientAdvocacy #BuffaloInitiative #HealthcareInnovation

This is why the Buffalo Initiative was created — to support these efforts at scale.

I am deeply grateful to Kamal Menghrajani for the once-in-a-lifetime opportunity to be the opening "priority setting" speaker for the The White House Cell and Gene Therapy Forum, hosted by the White House Office of Science and Technology Policy yesterday. It was humbling to be in a room with 80 extraordinary individuals—executives from the most innovative biopharma companies, funders of groundbreaking work, federal leaders, and experts whose contributions I have long admired. As a mom and lawyer without formal scientific or technical training, I often question if I belong in rooms like this. To not only be invited but to have a voice in such critical discussions was profoundly affirming. Over the past five years of immersing myself in the rare disease drug development journey, I’ve realized something that’s really hard to believe: the biggest challenges in the field are no longer scientific—they are, as John F. Crowley put it, “man-made problems.” Patient communities are one of the most disruptive forces we have to overcome these challenges. Our voices, our stories, and the paradigms we’ve developed out of sheer necessity push leaders in the space to reflect on their role in a system that isn’t working for the 95% of rare diseases that lack an FDA-approved treatment and to do something about it. The solutions are within reach. Initiatives like the Buffalo Initiative are examples of how we can create new paradigms and realign existing models to meet the needs of patient communities. But this requires bold leadership, collective action, and a willingness to disrupt the status quo for the sake of the patients whose lives depend on it. We must embody a buffalo in a storm— face these challenges together as one herd and charge forward to a future where all communities have access to the treatments they so desperately need. ?? ?? #WhiteHouseCGT

Thank you Richard Juknavorian for the opportunity to share my story and the work we are doing at the Buffalo Initiative, a new collective impact paradigm focused on enabling patient communities to rapidly translate science into medicines.

Thank you Daniel Levine for the opportunity to speak with you about our work at the CACNA1A Foundation and what led me to launch the Buffalo Initiative, a collaborative philanthropy effort to scale community-led therapeutic discovery for childhood brain diseases. Listen to our conversation here: https://lnkd.in/eezHHNWN

Grace Science started after Wilsey, whose daughter Grace has NGLY1 deficiency, cold-emailed eventual Nobel Prize winner Carolyn Bertozzi shortly after she moved her lab from the University of California, Berkeley, to Stanford University.

Rare disease is hard. The science is hard and yes, the business of ultra-rare is (lately) harder still. But the words “It’s just too rare; there will be no treatment in your child’s lifetime or possibly you own lifetime,” are the hardest of all. My family heard those words about our daughter and sister, Taylor, more than 17 years ago. We knew very little about rare disease, but there was one thing we knew for sure — CLN1 disease was going to get the fight of a lifetime, and an army of supporters joined our cause. On Rare Disease Day 2013, we announced our support of a CLN1 disease study with Steven Gray. Eleven years later, a child has been treated. I wish that I could adequately describe my family’s joy in this news. It’s humbling to think of the many people on the path to treating Charlie who believed with us, cared with us, and shared with us. It’s also a somber moment. For parents of a child with CLN1 disease, eleven years feels like a lifetime, in fact, it IS a lifetime. We can do better. We need earlier diagnosis to enable treatment at a time that makes sense for these children. We need a regulatory pathway that makes sense for ultra-rare diseases. We need to give these innovative treatments a chance. We need to create hope for more children and families. We can do better. We MUST do better.

Last week, I had the honor and privilege of speaking at the Broad Institute of MIT and Harvard's Rare Disease Day event co-hosted with The Termeer Foundation. The Broad was founded to fulfill the promise of genomic medicine, and the agenda for that day was evidence of just how far the science has come. As we know too well, unfortunately, we still have quite a distance to go to translate all this promising science into treatments that truly improve the lives of families impacted by these genetic diseases. Fewer than 1 in 10,000 academic discoveries make their way into a new therapy or diagnostics that helps patients, often because of a limited eventual market value. If you have a child who gets diagnosed with one of these diseases that have no treatment and no potential market value, you simply will not accept that what is standing in the way is a lack of investment, incentive and coordination. Whether it is a 100% fatal disease or one that is a life sentence, we face a ticking clock. So it is no surprise that over the last 10-15 years, as science has unlocked new genomic tools, we have seen a groundswell of patient leaders emerge after a diagnosis requires them to believe that nothing is impossible. They have developed a proven track record and competitive advantage in accelerating drug development because of their lived experience, advocacy efforts, access to patient populations and intrinsic motivation. While changing feeding tubes, stopping seizures, and witnessing children lose milestones, they become fearless and unrelenting in their drive to orchestrate the creation of treatments. And they do it all at rapid speed because their return on investment is their children’s lives. What if we organized a new path to medical innovation around these trailblazing patient leaders instead of giving lip service to patient centricity? What if we challenged the status quo and gave them the same access to funding as academic labs and biotech founders? Would it create a more equitable, collaborative, multidisciplinary approach to clinical research and drug development? Would it catalyze a more rapid development of the next generation of medicines that meaningfully improve families' lives? We are launching the Buffalo Initiative to answer these questions and more. Our first pilot is focused on helping patient leaders advance preclinical therapeutics to first-in-human clinical trials for pediatric-onset genetic brain diseases. We are looking for visionary funders and a broad array of advisors to join our team. If you are interested in learning more, please reach out to me, Nasha Fitter, Bina Maniar, Jennifer Sills, Lauren Flickinger or Ben Hecht. #BuffaloInitiative