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Top AADC News News

Artificial Intelligence · MiamiResearchers 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, PhD, a professor at the university’s Frost Institute for Data Science and Computing (IDSC). The team aims to modernize the cu…See the Story
Partners updating AI platform for faster rare disease diagnosis

European UnionMore 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 EMA [European Medicines Agency] committees,” Virginie Bros-Facer, CEO of EUR…Read Article
Statement backing EU patient representation gains more support

Mississippi · MississippiIt 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, a rare genetic disorder that severely limits the production of essential neurotransmitters. At that…Read Article