EveryLife Foundation for Rare Diseases’ 15th Scientific Workshop recently brought together leaders from the rare disease patient, scientific, government, and biopharmaceutical communities to discuss practical, patient-centered solutions for developing therapies for rare diseases amid evolving FDA pathways and programs. Titled, “Making What Matters Count: Advancing…
Discussion
When our daughter, Rylae-Ann, first walked into a classroom at a private international school in Thailand, it felt like a moment we once thought might never come. Rylae-Ann was born with aromatic l-amino acid decarboxylase (AADC) deficiency. This rare genetic disorder affects the body’s ability to produce…
SK pharmteco is partnering with Axle Informatics and the National Institutes of Health (NIH) to advance gene therapy programs for rare diseases. The collaboration, which was funded in part by the NIH, focuses on developing viral vectors that use modified viruses to deliver genetic material…
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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