Brandi Muhle was 9 years old when her 35-year-old mother, an Omaha police officer and a marathon runner, was first diagnosed ...

As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases ...

To mark progress on rare diseases, experts across the country, including those at Johns Hopkins Medicine, will celebrate Rare ...

I'm fighting a fatal disease that took the life of my brother. I work in biotech and know there are medical advances that ...

GeneDx is targeting a big market for its genetic testing: every newborn baby. The 24-old-company is developing a plan to make the testing common at birth.

A Washington startup has landed $4.5 million to support ag-tech that turns crop and timber waste into carbon-trapping biochar ...

You will be able to get a quick price and instant permission to reuse the content in many different ways. Hereditary spastic paraparesis (HSP) or the Strümpell-Lorrain syndrome is the name given to a ...

A revolutionary gene therapy treatment in London has improved the vision of children suffering from a rare genetic disorder, ...

Elon Musk’s unusual family, with a claimed 13th child now with four different mothers, has become the target tor a handful of ...

Doctors diagnosed Carmen Lopez with spinal muscle atrophy (SMA) at birth, a rare genetic disorder that affects motor neurons ...

The Department of Fisheries and Oceans has awarded Saint Mary’s University a contract to update the DNA database of one of the most critically endangered species in Canadian waters.

“It opens doors to identifying risks for siblings, addressing parents’ questions about recurrence, and pointing families toward the right specialty care.” Genetic testing can also provide ...