Why We Fund Research in Rare Genetic Diseases to Save Lives

Maria and Marcell, co-founders of Marabou, discuss their upcoming fundraising campaign to support a medical project called Perlara, which focuses on finding affordable cures for rare genetic diseases. Inspired by the success of Ethan Perlstein’s innovative method of using yeast to test drug compounds, which led to a significant improvement in a young girl named Maggie with a rare disease, they aim to raise up to €165,000 to fund similar research. Highlighting the potential of community-based funding, they emphasize the importance of collective action to provide hope and treatment for patients with rare conditions that are often overlooked by larger pharmaceutical companies.​⬤

transcript:

Maria: Hello Cookie,

Marcell: hello Mushroom. We are Maria and Marcel, the co-founders of Marabou, the funding subscription for impact innovation. Today, we would like to talk about our first campaign, which will start very soon. I would like to tell you about this campaign. This summer, until the end of September, we are fundraising for a project called Perlara. It is a medical project that researches cures for rare genetic diseases. To find a cure for one of these diseases costs around $75,000 to $85,000, and we are trying to fund at least one, ideally two. So, we aim to raise up to €165,000. We would like to invite all of you, your friends, and your families to participate in this fundraising.

Marcel: Maybe it’s good to look into what Perlara is actually doing and why it was so inspiring for us to support this project. I first heard about Ethan Perlstein and his project, Perlara, at the last DeSci Berlin Conference. Ethan told us the story of Maggie Carmichael, a girl born with a rare genetic disease. She could barely walk, and her condition was quite severe. United with her parents, they fundraised to run the research and found a cure for her disease. How did they do it? Ethan developed a method to test drug compounds in yeast. Funny fact—we share 80% of our DNA with yeast, meaning we can turn genes on and off in yeast to simulate rare genetic diseases and then test drugs that might work in humans.

Maria: Yes, and what happened next was remarkable. We saw videos showing the before and after results. Before the treatment, Maggie could hardly walk—she was often falling. In the second video, she was walking, drawing, and looking much healthier. The improvement was significant, and it was so touching to hear Ethan tell this story. This experience immediately connected me to his mission.

Marcell: Ethan calls finding these cures “cure odysseys,” which is a fitting description. He doesn’t create new medications but repurposes existing compounds. He has a library of 8,500 compounds and tests each to see which one might work. This method worked for Maggie using a 30-year-old medication from Japan, originally meant for something entirely different. Currently, they are completing phase three of a clinical trial, approved by the FDA, to make this treatment available to all children in the United States with the same condition.

Maria: I found it very interesting, especially given my background in medicine, that he created not just a medical innovation with the yeast model, which is barely used, but also a clinical innovation. Typically, you develop a compound and test it on many people in a clinical trial, which is expensive and usually done by large pharmaceutical companies. Ethan did something different by testing the medication on just one person first—Maggie. If it worked, they would then proceed to a larger trial. It’s a brilliant approach because it saves a lot of money and still offers hope to those with rare diseases, which big pharma companies often ignore due to the small market.

Marcel: This is why we want to fundraise and why our idea of community funding comes in. One parent alone may not have the means to cover these costs, but if we distribute this burden across many people who care, we can make a significant impact.

Maria: Yes, and this is just the beginning. We hope this project will inspire many and set a precedent for more projects in the future.

Marcel: Absolutely. So, we invite everyone to participate and make a difference together. Let’s do this!

This formatted text presents a more structured and readable version of the dialogue. If you need any more specific adjustments or details added, please let me know!