Weizmann Institute Scientists Unlock Mystery Behind Rare Genetic Disease

For scientists, the discovery is a breakthrough in understanding how genes that don’t make proteins can still play a crucial role in health.

By Shula Rosen

When Emma Broadbent was born nine years ago in Dallas, Texas, her parents immediately knew something was wrong.

She had unusual facial features, weak muscles, and trouble breathing. Doctors spent her first weeks in intensive care, unable to pinpoint the cause.

Suspecting a genetic condition, they ordered a test called exome sequencing, which looks at the small part of our DNA that contains the “instructions” for making proteins.

The results came back normal, yet Emma continued to have developmental delays and seizures.

Running out of options, Emma’s parents joined the Undiagnosed Diseases Network, which examines a person’s entire genetic code — not just the protein-making portion.

This broader search led researchers at the Broad Institute in Boston, led by Dr. Vijay S. Ganesh, to something surprising: Emma was missing one copy of a gene they had never seen linked to disease before, and it wasn’t a typical protein-making gene at all.

It turned out that halfway across the world, scientists at Israel’s Weizmann Institute of Science had already been studying the same gene for years.

Professor Igor Ulitsky’s team had named it Chaserr. Instead of making proteins, Chaserr produces a special type of RNA molecule that helps control how other genes work — something like a traffic signal for the body’s protein production.

In his research, Dr. Aviv Rom discovered that Chaserr acts like a brake on a protein called CHD2.

Without it, the “brake” is released and CHD2 levels rise too high. In lab mice, this caused developmental problems similar to those experienced by Emma.

For Emma’s family, finally knowing the cause of her condition has brought relief, even if a cure is not yet available.

For scientists, the discovery is a breakthrough in understanding how genes that don’t make proteins can still play a crucial role in health.

Emma’s story shows how mapping the full human genome — and connecting researchers across countries — can solve medical mysteries that once seemed impossible, offering hope to families still searching for answers.