ADVANCING TREATMENTS FOR NIPBL-Related cornelia de lange syndrome
We drive a focused research agenda, fund critical science, and unite experts to accelerate therapeutic development
NIPBL and Cornelia
de Lange Syndrome
Pathogenic variants in NIPBL are the most common cause of Cornelia de Lange Syndrome (CdLS): a multi-system developmental diagnosis marked by global developmental delay, intellectual disability, growth restriction, distinctive facial features, and limb differences. Gastrointestinal, heart, hearing, and vision problems are also common, and many children have features that overlap with autism. CdLS affects an estimated 1 in 10,000 to 30,000 births, and in most children, the variant is de novo: it arises spontaneously rather than being inherited.
NIPBL encodes the protein that loads cohesin, a ring-shaped complex that holds chromosomes together, repairs DNA, and controls when genes switch on and off. When one copy of NIPBL is disrupted, gene regulation breaks down.
There's no approved treatment today. But the science has reached a turning point, and we're driving toward the first therapeutic for CdLS.
We started where every family starts — at a diagnosis.
The NIPBL Therapeutics Foundation is a parent-led nonprofit working to turn a NIPBL diagnosis from a dead end into a starting line. We were founded by a mother of a child with Cornelia de Lange syndrome due to the NIPBL gene, who refused to accept that a diagnosis meant having no options.
We have one focus, on purpose. We fund the research and therapeutic pipeline that moves toward real treatments, guided by a Scientific & Strategic Advisory Board of leading clinicians and scientists. We establish the data and community infrastructure to make treatment possible.
Every dollar raised, every project funded, and every family connected points to one goal: precision therapies for NIPBL-related conditions. Built on evidence, delivered with care.
Make a life-changing donation — transform the future and spark hope
JUSt DIAGNOSED?
We remember the day we heard the words “Cornelia de Lange.” You’re not alone. Explore the family communities, care resources and research we wish we’d found sooner. Reach out to us anytime.
