Developing tailor-made treatments for ultra-rare disease patients: Research provides a roadmap microbiologystudy

In a new study, a team of researchers, including Anneliene Jonker, has published, in Nature Reviews Drug Discovery, the first roadmap for developing genetic therapies for ultra-rare diseases. These conditions affect only one person worldwide and stem from unique genetic mutations.

This breakthrough provides hope to millions worldwide who suffer from extremely rare genetic disorders for which no targeted treatments were previously available.

Worldwide, an estimated 350 to 450 million people have a rare disease, yet fewer than 5% of these conditions have specific medicinal treatments. Ultra-rare diseases, often due to unique genetic mutations, pose an even greater treatment challenge. Until recently, these patients were often overlooked.

Now, with recent advancements in genetic technologies, researchers can design therapies specifically tailored to each individual’s genetic profile.

Single-patient drug

A well-known example is the development of a personalized therapy for a young girl with Batten disease (CLN7). Within a year, scientists mapped her specific genetic mutation and created a tailored treatment.

To make this process scalable, Anneliene Jonker and her team developed a roadmap for crafting personalized treatments for other ultra-rare diseases.

Personalized treatment

In the long term, these techniques could support not only ultra-rare diseases but also more common conditions. “Just as braces are custom-fit to your teeth, we can tailor treatments to each person’s unique genetic makeup,” Jonker explains. This approach benefits not only those with ultra-rare diseases but also advances personalized genetic treatments for more common conditions.

The flexible development methods allow for faster and more effective responses to new diseases or genetic mutations. This research paves the way toward a future where treatments can be fully customized to each patient’s specific needs.