Mutation discovery leads to precise treatment for child with severe lymphatic disorder: A repurposed drug reshapes anatomy, brings dramatic clinical improvement

Faced with a preteen boy in pain and struggling to breathe from a severe, deteriorating rare condition, researchers at Children’s Hospital of Philadelphia identified the responsible gene mutation and harnessed that knowledge to develop a novel treatment that dramatically improved the problem. The patient had been born with a complex…

How egg cells choose their best powerhouses to pass on

Developing egg cells conduct tests to select the healthiest of their energy-making machines to be passed to the next generation. A new study in fruit flies, published online May 15 in Nature, shows how the testing is done. The work focuses on mitochondria, the cellular machines that turn the sugars,…