NIPBL Therapeutics Foundation

NIPBL Therapeutics Foundation advances treatments for NIPBL-related Cornelia de Lange Syndrome (CdLS), a rare genetic diagnosis caused by pathogenic variants in the NIPBL gene.

We are a nonprofit that sets the research agenda, funds critical science, and unites families, scientists, clinicians, and donors to move discoveries toward treatments that improve lives.

Founded by the family of a child with NIPBL-related CdLS. Partner with us as a collaborator, donor, or advocate: www.nipbl.org

The NIPBL Therapeutics Foundation is a parent-led nonprofit advancing treatments for NIPBL-related Cornelia de Lange syndrome (CdLS), a rare genetic condition that affects development and multiple body systems. Founded by a mother whose child has CdLS, we bring the urgency of families' lived experience to the work of therapeutic development.

We drive a focused research agenda, fund critical science, and connect researchers, clinicians, and families around one goal: meaningful treatments where none currently exist. Alongside research, we're building the data and community infrastructure needed to move promising science toward clinical impact.

Our values are simple: scientific rigor, collaboration, transparency, and deep respect for the people behind every diagnosis. We serve individuals with NIPBL-related CdLS and their families, keeping their needs and experiences at the center of our work.

We're a small, growing organization where people take ownership, work across disciplines, and help build something from the ground up. We welcome people who pair empathy with follow-through and share our conviction that a rare diagnosis should not mean a future without options.