New gene therapy helps patients with rare disease. One mother wouldn't have it any other way.

New gene therapy helps patients with rare disease. One mother wouldn't have it any other way.

A biotech in Cambridge, Mass., is targeting a rare disease called cystinosis with gene therapy. It's been effective for five patients in a clinical trial that's still underway.

Cherqui Lab

Three years ago, Jordan Janz of Consort, Alberta, knew his gene therapy treatment for cystinosis was working when his hair started to darken. Pigmentation or melanin production is just one part of the body damaged by cystinosis.

“When you have cystinosis, you’re either a redhead or a blonde, and you are very pale,” attests Janz, 23, who was diagnosed with the disease just eight months after he was born. “After I got my new stem cells, my hair came back dark, dirty blonde, then it lightened a little bit, but before it was white blonde, almost bleach blonde.”

According to Cystinosis United, about 500 to 600 people have the rare genetic disease in the U.S.; an estimated 20 new cases are diagnosed each year.

Located in Cambridge, Mass., AVROBIO is a gene therapy company that targets cystinosis and other lysosomal storage disorders, in which toxic materials build up in the cells. Janz is one of five patients in AVROBIO’s ongoing Phase 1/2 clinical trial of a gene therapy for cystinosis called AVR-RD-04.

Keep Reading Keep Reading
Christopher Johnston
Christopher Johnston has published more than 3,500 articles in publications including American Theatre, Christian Science Monitor, History Magazine, and Scientific American. His book, Shattering Silences: Strategies to Prevent Sexual Assault, Heal Survivors, and Bring Assailants to Justice (Skyhorse) was published in May 2018. He is a member of the Board of the American Society of Journalists and Authors.
Get our top stories twice a month
Follow us on
Why we don’t have more COVID-19 vaccines for animals

COVID-19 vaccines for humans number 30, while only three vaccines are available for animals, even though many species have been infected.

Jerry

Responding to COVID-19 outbreaks at more than 200 mink farms, the Danish government, in November 2020, culled its entire mink population. The Danish armed forces helped farmers slaughter each of their 17 million minks, which are normally farmed for their valuable fur.

The SARS-CoV-2 virus, said officials, spread from human handlers to the small, ferret-like animals, mutated, and then spread back to several hundred humans. Although the mass extermination faced much criticism, Denmark’s prime minister defended the decision last month, stating that the step was “necessary” and that the Danish government had “a responsibility for the health of the entire world.”

Over the past two and half years, COVID-19 infections have been reported in numerous animal species around the world. In addition to the Danish minks, there is other evidence that the virus can mutate as it’s transmitted back and forth between humans and animals, which increases the risk to public health. According to the World Health Organisation (WHO), COVID-19 vaccines for animals may protect the infected species and prevent the transmission of viral mutations. However, the development of such vaccines has been slow. Scientists attribute the deficiency to a lack of data.

Keep Reading Keep Reading
Puja Changoiwala
Puja Changoiwala is an award-winning journalist and author based in Mumbai. She writes about the intersections of gender, crime, technology, social justice and human rights in India. She tweets @cpuja.
Podcast: The Friday Five weekly roundup in health research

Researchers are making progress on a vaccine for Lyme disease, sex differences in cancer, new research on reducing your risk of dementia with leisure activities, and more in this week's Friday Five

KPixMining

The Friday Five covers five stories in health research that you may have missed this week. There are plenty of controversies and troubling ethical issues in science – and we get into many of them in our online magazine – but this news roundup focuses on scientific creativity and progress to give you a therapeutic dose of inspiration headed into the weekend.

Keep Reading Keep Reading
Matt Fuchs

Matt Fuchs is the editor-in-chief of Leaps.org. He is also a contributing reporter to the Washington Post and has written for the New York Times, Time Magazine, WIRED and the Washington Post Magazine, among other outlets. Follow him on Twitter @fuchswriter.