One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid

Although doctors didn’t know how to cure Massimo’s leukodystrophy, they knew enough about his disease that they could tell the Damianis what had helped other patients. One of those interventions was giving him high doses of a steroid. For 18 months, Massimo, whose irritability made it difficult to go out, was happier and more engaged with people, until the medicine lost its effectiveness.

But the parents they met whose children were similarly affected often had the best advice. “You start to share your stories, and you learn what works and what doesn’t work,” Damiani says. One family suggested giving Massimo the drug baclofen through an implant that injected it into his spine to relieve the stiffness in his legs.

Other parents explained how they soothed their young daughter who, like, Massimo became inconsolable for an hour at a time after being exposed to bright lights or sudden noises. The trick was to put the child in a quiet, dark room in his underwear, and he calmed down within five minutes. “This girl gave Massimo a voice, and he only had a voice because he had a diagnosis,” Damiani says.

The end of Massimo’s diagnostic odyssey also meant doctors could stop invasive testing. “He would have needles stuck in him, anesthesia, and claustrophobic MRIs,” Damiani says. “When he had to get a muscle biopsy, they used a device that looked like a small apple corer to take out a piece of his arm muscle. It felt terrible as a parent that he only associated doctors with pain.”

A diagnosis improved Massimo’s life. It was also the first step toward finding a cure. It was hope.

site here
discover here
click here for info
try this website
look at here
Visit Your URL
see this website
visit this page
Click Here
check this
browse around these guys
redirected here
visit this site right here
have a peek at this website
right here
why not try this out
article source
visite site
web link
you could try this out
my latest blog post
find out this here
wikipedia reference
find more information
continue reading this
this post
official website
go to these guys
learn the facts here now
Related Site
Click This Link
Visit This Link
you can try here
linked here
visit homepage
you can find out more
see this site
additional resources
pop over to this site
view it now
their website
special info
you could try these out
Check Out Your URL
my explanation
helpful site
More Info
go right here
this article
visit their website
check out here
he said
official source

When the genetic link to Massimo’s illness was identified, the team celebrated with an official patch and “Mission Accomplished” certificate.


Sinead Kennedy

Taft was now a father to a year-old baby girl, and he was surprised at the emotion that would surface within him whenever she cried out in pain. Fatherhood had connected him to the struggle of parents with sick children in a whole new way. In the meantime, he and Damiani had developed a deep friendship, and he was constantly moved by the father’s devotion to his son.

Taft originally had taken on the challenge of helping the Damianis to do something good at the time, but he couldn’t ignore the fact that the experience had given him a new purpose—in a field where he could make an immediate impact.

Every year, Taft had a tradition. He’d sit in the Brisbane library overlooking the river with a big piece of butcher paper. He’d write down his goals—or ask the big questions he wanted to answer—and then make more lists and draw lines and arrows to see if he was on the right path.

But this Saturday morning he quickly asked himself the most direct question of all about his new calling: “How would I feel if I dropped all of that?”

Within a couple weeks, he contacted a colleague at Illumina and asked if there was a place for him there. “It’s funny you should call now,” he remembers her saying. “[Chief scientist and VP] David Bentley and Jay Flatley were just asking about you.”

In April 2014, Taft was hired as the director of scientific research at Illumina, three months after the $1,000 genome was announced to the public. The family—now with a son on the way—had moved back to his hometown of San Diego for the job. On his first day, Taft handed Bentley, his new boss, a four-page document outlining his vision for the future of personalized medicine. “I want to bring a genome to every kid who needs one,” he told him. “We start small and then we scale globally.”

Taft had proposed opening a clinic at Illumina, but that wasn’t practical. Instead, the company would focus on partnering with hospitals and helping them set up labs. In the process they’d be getting more research results, showing people in the clinics the value of genetic sequencing, training a workforce, continuing to develop sequencing technology, and improving the interpretation of vast amounts of data.

Leave a Reply

Your email address will not be published.