News From the McGarry Lab

Universal screenings for the inherited disease promised to get babies diagnosed and treated sooner. But they still miss some children of color.

“We found there's huge disparities between babies of different races and ethnicities, and whether they're going to be detected. Diagnosis really depends on what your race and ethnicity is. That's just unethical.”

“It’s a pharmaceutical company versus an insurer, and each is maneuvering to increase their profits. And we all understand their goals are to be profitable. It’s a battle about who makes the most money. And patients are being putting at risk.”

“Newborn screenings are meant to be a public health measure that is equal across populations, but in practice, we are actually creating disparities because children of color are going undiagnosed for cystic fibrosis until an older age. That means they are treated later when symptoms occur, and their outcomes are often worse.”

Latinos in the Caribbean with cystic fibrosis (CF) carry rare CFTR gene mutations not often seen in Latin or other CF populations elsewhere, a study led by physician-scientists at the University of California, San Francisco (UCSF) found.

A new cystic fibrosis therapy dramatically improved patients’ lung function and showed clear signs of targeting the genetic root of the disease, instead of just alleviating symptoms — a breakthrough so long-sought that many doctors and patients are moved to tears when talking about it.

Cystic fibrosis patients from Puerto Rico and the Dominican Republic carry different genetic variants in the CFTR gene than most CF patients, a new sequencing-based study has found, which could impair their ability to benefit from screening or treatment with new targeted therapies.

Without More Diverse Clinical Trials, Life-Saving Personalized CF Therapies Will Perpetuate Health Inequality, Researchers Say