Stories about: mTOR

Finally in the game: Patient in drug trial for PTEN mutation seems to benefit

The first patient to receive everolimus for PTEN hamartoma tumor syndrome
Preston Hall is the first Boston Children’s Hospital patient with PTEN hamartoma tumor syndrome to be treated with everolimus. At left, Siddharth Srivastava, MD. (PHOTO: SEBASTIAN STANKIEWICZ/BOSTON CHILDREN’S HOSPITAL)

From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his failure to thrive. Preston eventually bounced back, but the underlying cause of his complex medical problems remained a mystery. All the while, his fraternal twin Luke overcame more typical preemie issues by age 3.

“At one point Preston had 20 different diagnoses,” his mother, Jennifer Hall, says. “It wasn’t until he was about 4 years old that we started to think his delays were not due to prematurity alone.”

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Is rapamycin the new aspirin?

rapamycin
Easter Island, home of rapamycin (Ndecam/Flickr)

I’ve heard it said that if aspirin had to go through today’s FDA approval process, it would never be approved for over-the-counter use because it just does so many things. Lately, it’s been hard to cover biomedical research at Children’s without stumbling on another drug that’s also FDA-approved and also seems to have multiple uses: rapamycin.

It’s a drug that targets a pathway fundamental to nearly every cell in the body, yet is seemingly good for nearly everything. But how can one drug touch on so many cells and tissues and organs and still be both effective and safe?

First found in the 1960s in soil bacteria collected on Easter Island (the drug’s name comes from the island’s native name, Rapa Nui), rapamycin is a naturally derived antibiotic, antifungal and immunosuppressant.

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