Researchers at the University of Miami are collaborating with artificial intelligence (AI) software company Sivotec Bioinformatics to enhance the GENA platform — a tool designed to accelerate the diagnosis of rare genetic diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The project is led by Kaan Inal,…
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More than 70 additional patient organizations have joined a joint statement from the European Organization for Rare Diseases (EURORDIS) and the European Patients’ Forum (EPF) urging European policymakers to safeguard patient representation in regulatory decisions affecting medicines. “Patient representatives are not passive participants, but expert, committed members of…
It was bound to happen. After six years of dodging it, our daughter, Rylae-Ann, finally caught COVID-19. For my wife, Judy, and me, this triggered a rush of emotions, including fear, worry, and, ultimately, gratitude. Rylae-Ann isn’t like most kids. At just 8 months old, she was diagnosed with…
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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