Genetic testing data collected at diagnosis may help guide medication use in people with rare diseases such as AADC deficiency, a new study shows. Researchers found that nearly a third of rare disease patients have at least one genetic variation that could influence how their bodies respond to medications…
Discussion
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 —…
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.
