April 9, 2025, New York, NY — RTW Foundation is proud to announce the publication of a new paper in the journal Drug Discovery Today, co-authored by our Director of Research Joe Katakowski, PhD and former Managing Director, Juan Carlos López, PhD. The paper, titled “Drug development for neglected ultra-rare diseases of no commercial interest: Challenges and opportunities” highlights the urgent challenges faced by ultra-rare disease communities and presents a new framework for sustainable therapeutic development for conditions affecting the world’s most overlooked patients.
Ultra-rare diseases, typically defined as those affecting fewer than 1 in 50,000 people, encompass thousands of distinct conditions—some impacting only a few individuals globally. While each condition is unique, what they share is a lack of commercial viability, making traditional drug development models inaccessible for these populations.
"Drug development for ultra-rare diseases has been historically neglected by the pharmaceutical industry owing to the small number of patients who live with these conditions,” said Joe Katakowski. “Our goal is to illuminate the unique challenges that ultra-rare disease communities face and to advocate for new, more inclusive models of drug development. By realigning incentives and investing in patient-driven solutions, we can bring hope and therapies to those who’ve long been left behind.”
The full paper is available online with open access, marking a critical step in raising ultra-rare disease awareness and sharing viable solutions with global stakeholders—particularly patient foundations—who are often at the forefront of driving treatment progress.
The full article is freely accessible to the public and available here: Drug development for neglected ultra-rare diseases of no commercial interest: Challenges and opportunities - ScienceDirect
About RTW Foundation
Founded in 2018 as the philanthropic arm of RTW Investments, LP, RTW Foundation works to power community initiatives and provide scientific advising to improve the health of underserved populations. The Foundation supports the development of medicines for neglected rare diseases, empowers youth to explore careers in science, biotechnology, and medicine, and builds partnerships with local organizations to advance health equity in New York City. To learn more, visit www.rtwf.org