Medicine

Gene therapy helps restore teen’s vision for first time

Health Biotech
Gene therapy helps restore teen’s vision for first time

Doctors used new eye drops to treat a rare genetic disorder.

Adobe Stock

Story by Freethink

For the first time, a topical gene therapy — designed to heal the wounds of people with “butterfly skin disease” — has been used to restore a person’s vision, suggesting a new way to treat genetic disorders of the eye.

The challenge: Up to 125,000 people worldwide are living with dystrophic epidermolysis bullosa (DEB), an incurable genetic disorder that prevents the body from making collagen 7, a protein that helps strengthen the skin and other connective tissues.Without collagen 7, the skin is incredibly fragile — the slightest friction can lead to the formation of blisters and scarring, most often in the hands and feet, but in severe cases, also the eyes, mouth, and throat.

This has earned DEB the nickname of “butterfly skin disease,” as people with it are said to have skin as delicate as a butterfly’s wings.

Keep Reading Keep Reading
Kristin Houser
Kristin Houser is a staff writer at Freethink, where she covers science and tech. Her written work has appeared in Business Insider, NBC News, and the World Economic Forum’s Agenda, among other publications, and Stephen Colbert once talked about a piece on The Late Show, to her delight. Formerly, Kristin was a staff writer for Futurism and wrote several animated and live action web series.
infodemic

Embrace the mess: how to choose which scientists to trust

List Bioethics
Embrace the mess: how to choose which scientists to trust

A dozen bioethicists and researchers shared their advice on how to spot the scientists searching for the truth more than money, ego or fame.

Adobe Stock

It’s no easy task these days for people to pick the scientists they should follow. According to a recent poll by NORC at the University of Chicago, only 39 percent of Americans have a "great deal" of confidence in the scientific community. The finding is similar to Pew research last year showing that 29 percent of Americans have this level of confidence in medical scientists.

Not helping: All the money in science. Just 20 percent of Pew’s survey respondents think scientists are transparent about conflicts of interest with industry. While this issue is common to many fields, the recent gold rush to foot the bill for research on therapies for healthy aging may be contributing to the overall sense of distrust. “There’s a feeling that at some point, the FDA may actually designate aging as a disease,” said Pam Maher, a neuroscientist who studies aging at Salk Institute. “That may be another impetus for a lot of these companies to start up.”

But partnering with companies is an important incentive for researchers across biomedical fields. Many scientists – with and without financial ties and incentives – are honest, transparent and doing important, inspiring work. I asked more than a dozen bioethicists and researchers in aging how to spot the scientists who are searching for the truth more than money, ego or fame.

Keep Reading Keep Reading
Matt Fuchs
Matt Fuchs is the host of the Making Sense of Science podcast and served previously as the editor-in-chief of Leaps.org. He writes as a contributor to the Washington Post, and his articles have also appeared in the New York Times, WIRED, Nautilus Magazine, Fortune Magazine and TIME Magazine. Follow him @fuchswriter.
genetics

What will the $100 genome mean?

Health In The Lab
What will the $100 genome mean?

A company has slashed the cost of assessing a person's genome to just $100. With lower costs - and as other genetic tools mature and evolve - a wave of new therapies could be coming in the near future.

Adobe Stock

In May 2022, Californian biotech Ultima Genomics announced that its UG 100 platform was capable of sequencing an entire human genome for just $100, a landmark moment in the history of the field. The announcement was particularly remarkable because few had previously heard of the company, a relative unknown in an industry long dominated by global giant Illumina which controls about 80 percent of the world’s sequencing market.

Ultima’s secret was to completely revamp many technical aspects of the way Illumina have traditionally deciphered DNA. The process usually involves first splitting the double helix DNA structure into single strands, then breaking these strands into short fragments which are laid out on a glass surface called a flow cell. When this flow cell is loaded into the sequencing machine, color-coded tags are attached to each individual base letter. A laser scans the bases individually while a camera simultaneously records the color associated with them, a process which is repeated until every single fragment has been sequenced.

Instead, Ultima has found a series of shortcuts to slash the cost and boost efficiency. “Ultima Genomics has developed a fundamentally new sequencing architecture designed to scale beyond conventional approaches,” says Josh Lauer, Ultima’s chief commercial officer.

Keep Reading Keep Reading
David Cox
David Cox is a science and health writer based in the UK. He has a PhD in neuroscience from the University of Cambridge and has written for newspapers and broadcasters worldwide including BBC News, New York Times, and The Guardian. You can follow him on Twitter @DrDavidACox.