One of the most powerful things a child can learn is how to ask good questions. Questions are how children make sense of the world, test ideas, and discover new possibilities. As parents and educators, we often focus on teaching children answers. Yet the ability to ask thoughtful questions may…
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…
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.
