A partnership between an Atlanta company that connects doctors and patients with rare diseases to clinical trials could improve how patients are identified and referred.
Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive. Location can also be a big hurdle for patients seeking this specialized care.
The Food and Drug Administration aims to evaluate treatments for rare diseases based on plausible evidence that they would work — without requiring a clinical trial first.
For the first time, doctors have created a customized treatment using the revolutionary gene-editing technique known as CRISPR to treat a baby with a rare, life-threatening genetic disorder.
The gene-editing technique is effective for treating some illnesses but it's been too expensive to consider it for rare conditions. A new approach in the works could make it more widely available.
An estimated 30 million Americans are diagnosed with a rare disease. Before whole genome sequencing, it sometimes took more than a decade to find the specific genetic mutation.
A newly approved drug can extend the lives of children with progeria, a rare disorder that causes rapid aging. The drug is the result of one family's effort to help a child with the fatal condition.
