Raise the Line - The Power of a Rare Disease Community - Luke Rosen, Founder of KIF1A.org

The Power of a Rare Disease Community - Luke Rosen, Founder of KIF1A.org

12/01/22 • 43 min

“You know, it's easy to say that default answer that everything's okay, but it's really not. She's lost a lot of her vision, she's got hundreds of seizures at night, and she's having difficulty walking,” shares Luke Rosen about his eight-year-old daughter Susannah. She was born with KIF1A-associated neurological disorder -- or KAND -- a rare, degenerative genetic disease for which there is currently no cure or treatment. On this episode of Raise the Line, Luke talks about how he and his wife Sally summoned the strength to move beyond their family’s own challenges to create KIF1A.org which is working to rapidly discover a treatment for all patients and families affected by this devastating disorder, but to also create a supportive community. “Five years later, we have approximately four hundred families around the world that we've identified and there's not one family I know that doesn't play a significant role in what we do.” Thanks to that global community and partnerships with the Chan Zuckerberg Initiative, Columbia University, the n-Lorem Foundation, the Jackson Laboratory and many other organizations, there’s reason to be hopeful, as Luke shares with host Shiv Gaglani. “Susannah has been fortunate enough to just have started an experimental treatment. We really are on the brink of several things for, hopefully, the entire community.” Tune in for a candid and moving look at how families and supportive scientists and healthcare providers are mobilizing to fight back against a rare and pernicious threat to their children.

Mentioned in this episode: https://www.kif1a.org/

If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Mentioned in this episode: https://www.kif1a.org/

If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Previous Episode

Solving the Rare Disease Equation - Dr. Alaa Hamed, Global Head of Medical Affairs, Rare Diseases at Sanofi

As we continue our focus on rare diseases on Raise the Line, we’re delighted to be joined by Dr. Alaa Hamed, Global Head of Medical Affairs, Rare Diseases at Sanofi, one of the leading pharmaceutical companies in the world. Although most well known for their focus on lysosomal storage disorders including Gaucher and Pompe disease, Dr. Hamed and his team at Sanofi are also working in adjacent disease spaces depending on the systems affected. “For example, the lysosome in Pompe disease affects the neuromuscular tissues, so we have a neuromuscular disorder interest as well.” In their discussion, Dr. Hamed and host Shiv Gaglani also touch on the efforts Sanofi is making to shorten the diagnostic odyssey for rare disease patients, including building more disease awareness and greater global infrastructure. “From the inception, we thought that having universal access is a key part of the rare disease equation.” You’ll also learn about the challenges of drug development, the importance of maintaining policy incentives to focus on rare diseases, and where innovation is needed most to advance outcomes for patients.

Mentioned in this episode: https://www.sanofi.com/

If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Next Episode

Using Rare Disease Research to Unlock Common Diseases - Matt Wilsey, CEO of Grace Science

Grace Wilsey was born with a deadly genetic mutation so rare that at the time of her birth, it had never been identified in another person. The disorder, NGLY1 deficiency, causes a wide range of physical and cognitive problems such as muscle weakness, speech deficiencies and seizures. “The NGLY1 gene is in every cell in the body. It's almost like a firefighter that's on call, ready to go when there's a problem. Without it, the cell just kind of overwhelms itself with stress and starts to die,” explains Matt Wilsey, Grace’s father, who joins us on this episode of Raise the Line to talk about the daunting journey he and his family have been on since Grace was born in 2009. That journey involves starting a foundation and biotech company that’s fueling research on NGLY1 deficiency which could have an impact on more common diseases such as cancer, diabetes and Parkinson's. The researchers the Grace Science Foundation supports include several Nobel laureates whose work is providing reason for optimism. In fact, Matt says they hope to start a clinical trial in early 2023 to study a gene therapy that has shown promise in animal testing. Listen to this fascinating conversation with host Shiv Gaglani to learn about the race with time to unlock the secrets to a gene that is fundamental to human life.

Mentioned in this episode: https://gracescience.org/

If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast