Through a series of long-term experiments using rats, a team of U.S. scientists has tracked how an AAV2-based gene therapy vector similar to the one used in Kebilidi (eladocagene exuparvovec-tneq), an approved gene therapy for AADC deficiency, travels through the brain. Results showed that capsid signals from the…
Discussion
Before becoming parents of a child with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I probably would have laughed at the idea of buying a smartwatch for a young child. As educators, we spend a large part of our day trying to convince students…
The National Organization for Rare Disorders (NORD) is teaming up with artificial intelligence (AI) company Openevidence to combine artificial intelligence (AI) with expert review to create new educational resources on thousands of rare diseases. “People living with rare diseases and the families who support them deserve access 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.
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