Tuesday January 28, 2020

Scientists Hail New Cystic Fibrosis Treatment

"Now, 30 years later, that time has come"

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Scientists, Cystic Fibrosis, Treatment
FILE - A research scientist works in a laboratory at Vertex Pharmaceuticals Inc. in San Diego, March 4, 2015. The company's new cystic fibrosis drug, Trikafta, was approved by the Food and Drug Administration last week. VOA

On Aug. 25, 1989, an 8-year-old girl with cystic fibrosis wrote in her journal that it was “the most best day” because scientists had “found a Jean for Cistik fibrosis.”

On Thursday, the current head of the National Institutes of Health — who was a member of one of the teams that found the gene — wrote in The New England Journal of Medicine that a triple-drug therapy has been found to be highly effective in treating the life-threatening disorder.

“We hoped that the gene discovery would someday lead to effective treatments for children and adults with cystic fibrosis,” Francis Collins wrote. “Now, 30 years later, that time has come.”

The drug, called Trikafta, was approved by the Food and Drug Administration last week.

Scientists, Cystic Fibrosis, Treatment
On Thursday, the current head of the National Institutes of Health — who was a member of one of the teams that found the gene — wrote in The New England Journal of Medicine. Pixabay

Some 30,000 Americans have been diagnosed with cystic fibrosis, which causes thick mucus buildup in the patient’s organs, affecting respiration and digestion. While other drugs have helped lengthen patients’ lives, those born with the disease are expected to live only into their 40s.

Past treatments helped only a small percentage of patients, but Trikafta targets Phe508del, the most common mutation of the cystic fibrosis gene. Collins said this means 90% of those suffering from cystic fibrosis — including Jenny, the 8-year-old journal writer — will be helped by the therapy.

Now 38, Jenny McGlincy told The Washington Post that she cried when she read the drug had been approved.

“To think of my lung function improving or my digestion increasing, or even adding a few years to my life that I could spend with my daughter. … Now that it’s available, I’m a little like, ‘Is this really happening?’ ” she told the Post.

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 Model of collaboration

Cystic fibrosis research has set a standard of how the collaboration between nonprofits and pharmaceutical firms can help develop treatments. Collins points out that the Cystic Fibrosis Foundation, frustrated that gene treatments were slow to be found, decided to invest directly in a small company called Aurora Biosciences, which is now Vertex Pharmaceuticals, the developer of Trikafta.

That collaboration, “now spanning more than two decades, can be seen as an important model for other rare genetic diseases,” Collins wrote.

Scientists, Cystic Fibrosis, Treatment
“We hoped that the gene discovery would someday lead to effective treatments for children and adults with cystic fibrosis,” Francis Collins wrote. Pixabay

After the discovery of the gene, Collins wrote a song, “Dare to Dream.”

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“The lyrics expressed hope that the gene discovery would lead to effective treatments for cystic fibrosis — that someday we would see ‘all our brothers and sisters breathing free.’ It is profoundly gratifying to see that this dream is coming true,” he said. (VOA)

Next Story

Scientists Recreate Voice of an Egyptian Priest Who Lived 3,000 Years Ago

The researchers suggest that their proof-of-concept recreation of a vocal tract preserved over three millennia has implications for the way in which the past is presented to the public in the present

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Egyptian
The Egyptian priest Nesyamun lived during the politically volatile reign of the pharaoh Ramses XI over 3000 years ago, working as a scribe and priest at the state temple of Karnak in Thebes (modern Luxor). IANS

Scientists have succeeded in accurately reproducing the voice of an Egyptian priest who lived 3,000 years ago, thanks to the mummification process and the use of 3D printing technology.

The scientists created the 3-D printed vocal tract based on measurements of the precise dimensions of his extant vocal tract following computed tomography (CT) scanning.

The acoustic output is a single sound, falling between the vowels in the English words ‘bed’ and ‘bad’, according to the study published in the journal Scientific Reports.

The Egyptian priest Nesyamun lived during the politically volatile reign of the pharaoh Ramses XI over 3000 years ago, working as a scribe and priest at the state temple of Karnak in Thebes (modern Luxor).

His voice was an essential part of his ritual duties which involved spoken as well as sung elements. The precise dimensions of an individual’s vocal tract produce a unique sound. If the dimensions of a vocal tract can be established, vocal sounds can be synthesized by using a 3D-printed vocal tract and an electronic larynx.

Egyptian Art, Sarcophagus, Pharaoe, Ancient, Egypt
Scientists have succeeded in accurately reproducing the voice of an Egyptian priest who lived 3,000 years ago, thanks to the mummification process and the use of 3D printing technology. Pixabay

For this to be feasible, the soft tissue of the vocal tract needs to be reasonably intact. David Howard of University of London and his colleagues used non-destructive CT to confirm that a significant part of the structure of the larynx and throat of the mummified body of the Nesyamun remained intact as a result of the mummification process.

This allowed the authors to measure the vocal tract shape from CT images. Based on these measurements, the authors created a 3D-printed vocal tract for Nesyamun and used it with an artificial larynx commonly used in speech synthesis.

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The researchers suggest that their proof-of-concept recreation of a vocal tract preserved over three millennia has implications for the way in which the past is presented to the public in the present. It may provide an opportunity to hear the vocal tract output of an individual that lived in ancient times. (IANS)