SMARCA2

"Of the 36 patients we had at that time, they were able to find a change in the same gene in 34 of them," Hennekam said.

His team had found alterations to the gene known as SMARCA2.

He and Sosa doggedly pursued more NCBRS answers.

In 2014, they published the most thorough description yet of the impacts of this syndrome on the 61 diagnosed individuals around the world, which became a guide for doctors when a new patient popped up.

Because of their research, by 2016, routine genetic testing could detect SMARCA2 variants.

That's how Maya got her diagnosis, as did many of the world's 337 cases.

Third stop, English countryside.

"I think funders don't see the benefit of helping such a small community." Then last summer, finally some good news.

Elsewhere in early development, a readout has stopped a partnered program.

FHD-909 was Foghorn Therapeutics' Phase 1 oncology program, partnered with Lilly and designed to hit SMARCA2 selectively.

Foghorn says it did that, at exposures above preclinical targets and with favorable safety, but efficacy fell short and the companies won't take it into expansion.

For this molecule, reaching the target wasn't enough.