What If Treatments are Already on the Pharmacy Shelf?

Imagine finally getting a diagnosis for your child's profound illness, only to learn that there are no treatments and no one is researching the disease. For the vast majority of the over 300 million people worldwide living with one of the more than 10,000 rare diseases that lack an FDA-approved treatment, this is the devastating reality.

Then comes the demoralizing news: developing a new drug can take 15 years and cost over a billion dollars. But, rare disease patients need treatments NOW!

This is the urgent reality for our family. Both of our children, Charlotte and Cooper, live with FAM177A1-Related Neurodevelopmental Disorder (FRND)—a condition so rare that only a handful of children in the world have it. It causes developmental delays, seizures, behavior disturbance, and motor decline. When a child has a rare disease, time takes on new meaning. Every month without a treatment can mean a skill lost or a milestone missed.

Our kids can’t wait that long.

The Time is Now: Drug Repurposing for Rare Disease

But what if a life-changing rare disease drug is hiding in plain sight on a pharmacy shelf? This is the powerful promise of drug repurposing for rare disease, which completely changes the equation.

It means that medications proven safe—already tested and approved for other conditions—could be studied and redirected for a disease like FRND, potentially years faster and at a fraction of the traditional cost.

The most impactful example of this is the story of Dr. David Fajgenbaum. After nearly dying five times from Castleman disease, a rare immune disorder, he found a cure not by starting from scratch, but by investigating existing drugs and discovering one that saved his life. He has since created the non-profit Every Cure to leverage his learnings and unlock new purposes for existing medicines.

Dr. Fajgenbaum’s story reminds us that the answers we need might already exist—we just have to look in unexpected places. 💙 I first first learned by Dr. Fajgenbaum on the Once Upon A Gene Podcast. Listen to his inspiring story and then watch his TED Talk here.

Becoming Drug Detectives

That’s why drug repurposing is a key focus of the FAM177A1 Research Fund. Inspired by the success of others, and thanks to our supporters, we are now drug detectives.

At the FAM177A1 Research Fund, we've launched an aggressive drug-repurposing plan to find treatments fast. This effort involves leveraging AI, patient data, and disease models to predict viable drug candidates. Key initiatives include:

• Dr. Clement Chow’s fly model screening over 1,500 FDA-approved drugs.

• The Unravel Biosciences rareSHIFT Program and Somologic Proteomic Analysis for deep molecular insights.

• Multi-omic analysis to integrate all data for the strongest predictions.

We then prioritize the most promising 'hits' with our scientific and clinical advisory board. Finally, we develop a rigorous strategy for accessing the drugs, designing thoughtful clinical studies to measure effectiveness, and publishing the data to accelerate access for all of our FAM FRNDs in the future. 

For Charlotte, Cooper, and every child with a rare disease, this shift from 'no treatments' to 'treatments possible' could be life-changing. Every gift to the FAM177A1 Research Fund fuels this work: funding research, powering discovery, and moving us closer to the day we say we've found treatments.

Know this: your belief in us is part of the cure. Because sometimes, the right rare disease drug is already out there. We just have to find it, together.