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AI chatbot aims to improve diagnosis for rare disorders

Researchers at Oregon State University are developing an artificial intelligence (AI) chatbot to help doctors diagnose rare disorders like aromatic l-amino acid decarboxylase (AADC) deficiency. “In the long term, I’m convinced that AI will have a profound impact on health care,” Stephen Ramsey, PhD, associate professor of…

NORD scientific symposium aims to advance rare disease research

The National Organization for Rare Disorders (NORD) will host its first rare disease scientific symposium, in hopes of advancing rare disease research. The NORD Rare Disease Scientific Symposium will be held June 2-3 in Washington. Online registration is available. The symposium “offers a rare opportunity to bring together…

NORD launches website to help people navigate health insurance

The National Organization for Rare Disorders (NORD) has launched NORD Claim Your Care, a digital tool meant to help people living with rare diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency, navigate health insurance. NORD Claim Your Care is an online resource for people with rare diseases…

Most FDA drug approvals in 2024 targeted rare diseases

More than half of all therapies approved by the U.S. Food and Drug Administration (FDA) in 2024 were designed to treat rare diseases, according to an advisory firm that helps life sciences companies navigate the commercialization process. One such approval was for Kebilidi (eladocagene exuparvovec-tneq), a gene therapy developed…

NORD shares favorite moments from Rare Disease Day

Note: This story was updated March 21, 2025, to correct that Pamela Price was a competing athlete in “American Ninja Warrior.” More than 100 events across the U.S. marked Rare Disease Day, an annual initiative at the end of February to raise awareness for rare diseases like aromatic…

Dental surgery under anesthesia successful for AADC deficiency boy

A 14-year-old boy with aromatic l-amino acid decarboxylase (AADC) deficiency had successful extensive dental surgery under general anesthesia, a study reports. Precautions were taken throughout the procedure to avoid complications that occur with anesthesia in this patient population, including abnormal changes in blood pressure, body temperature, and blood…

Kebilidi linked to clinically meaningful motor gains: Analyses

Half of aromatic l-amino acid decarboxylase (AADC) deficiency patients given the one-time gene therapy Kebilidi (eladocagene exuparvovec) exhibited clinically meaningful improvements in motor function after six months, and 86% had achieved such gains after 1.5 years, according to analyses of clinical trial data. Scientists identified a threshold at…