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…
Discussion
Before we had a diagnosis, before we understood words like “neurotransmitters” or “genetic mutations,” my wife, Judy, and I were just doing what new parents are told to do. We put our daughter on her stomach and encouraged her to lift her head. Tummy time. Simple in theory. Not so…
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…
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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