Natera has launched Zenith genomics, its next-generation genetic testing platform designed to improve the detection of rare diseases, such as aromatic l-amino acid decarboxylase deficiency. The platform uses whole-genome sequencing — a laboratory process that reads a person’s entire genome, or complete DNA sequence — and interpretation technology…
Discussion
In the past, I’ve written about our family’s “therapy vacations.” Trips where every activity had a purpose, and every moment was designed to build strength, coordination, or communication. Our recent vacation felt different. Our daughter, Rylae-Ann, was born with aromatic l-amino acid decarboxylase (AADC)…
Genetics sequencing company Illumina is teaming up with the Center for Data-Driven Discovery in Biomedicine (D3b) on a new project that aims to leverage genomic data from thousands of children to better understand the biological underpinnings of childhood rare diseases and cancers. With this initiative, D3b — a…
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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