Illumina has announced that its Laboratory Services unit is providing clinical genome sequencing and interpretation services to the diagnostic lab at the Florida Institute for Pediatric Rare Diseases (IPRD) at Florida State University to help diagnose rare diseases. This collaboration aims to expand the use of whole-genome sequencing —…
Discussion
When people hear about a rare disease, they often assume they will never encounter it. The word “rare” suggests distance — something that happens somewhere else, to someone else. The truth is very different. In the U.S., about 1 in 10 people live with a rare disease. While exact numbers…
The U.S. Food and Drug Administration (FDA) has issued draft guidance outlining a framework that could help speed the development and approval of personalized treatments for ultra-rare diseases, such as Aromatic l-amino acid decarboxylase (AADC) deficiency. The framework, “Considerations for the Use of the Plausible Mechanism Framework to…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic and neurometabolic disease that affects the nervous system. Learn more about the disease here.
AADC deficiency can affect many aspects of a person’s life, including mobility, breathing, sleeping, and eating. Learn more here about different ways to manage the condition, adapt, and handle everyday tasks.
There is not yet a cure for AADC deficiency, but there are approved treatments that can help manage the condition, as well as experimental treatments in the pipeline. Learn more about treating the disease here.
Get regular updates to your inbox.
