Skip to main content
Premium Trial:

Request an Annual Quote

GeneDx, Krystal Biotech Partner to Offer Free Genetic Testing for Rare Skin Disease

NEW YORK — GeneDx has partnered with gene therapy developer Krystal Biotech to provide no-cost genetic testing for epidermolysis bullosa, a rare skin disorder for which Krystal is developing a treatment, the companies said on Tuesday.

EB is characterized by fragile skin that is prone to blistering and tearing. There are four types of the disease, each caused by mutations in different genes. Krystal currently has a drug for dystrophic EB, which is caused by mutations in the COL7A1 gene, in Phase III development.

Under the terms of their deal, Krystal and GeneDx will work together to provide free genetic testing for all forms of EB, with the goal of helping dystrophic EB patients receive a diagnosis sooner. The test, the companies said, uses a panel of genes to distinguish different forms of EB, as well as genetic conditions with similar symptoms.

Additional terms were not disclosed.

"Many suspected EB patients do not receive diagnostic testing due to lack of insurance coverage, cost of assessment, and unfamiliarity with the impact of genetic information on healthcare delivery," Jeanett Segal, US medical director for Krystal, said in a statement. "Fortunately, genetic tests are available, and we are thrilled to work with GeneDx to offer this at no charge to patients with EB symptoms."

Gaithersburg, Maryland-based GeneDx is a subsidiary of Opko Health's BioReference Laboratories.

The Scan

Could Mix It Up

The US Food and Drug Administration is considering a plan that would allow for the mixing-and-matching of SARS-CoV-2 vaccines and boosters, the New York Times says.

Closest to the Dog

New Scientist reports that extinct Japanese wolf appears to be the closest known wild relative of dogs.

Offer to Come Back

The Knoxville News Sentinel reports that the University of Tennessee is offering Anming Hu, a professor who was acquitted of charges that he hid ties to China, his position back.

PNAS Papers on Myeloid Differentiation MicroRNAs, Urinary Exosomes, Maize Domestication

In PNAS this week: role of microRNAs in myeloid differentiation, exosomes in urine, and more.