News

Statement backing EU patient representation gains more support

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…

New PromoterAI algorithm may aid rare disease diagnoses

Illumina has launched PromoterAI, an artificial intelligence (AI) algorithm to identify genetic variants in noncoding regions of genes that may cause rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. The technology is intended to help researchers diagnose more people with rare diseases caused by mutations in noncoding gene…

New AI tool may help physicians diagnose rare diseases like AADC

Researchers in Germany are creating an artificial intelligence (AI) tool to help physicians diagnose rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, and connect their patients to specialists. “At the end of the project, physicians will be able to upload a patient’s symptoms and medical results onto…

OneMedNet expands capabilities with real-world rare disease data

OneMedNet, a provider of real-world healthcare imaging data, will expand its capabilities to enable secure collaboration for researchers investigating rare diseases and other complex medical questions. By providing de-identified, curated datasets, OneMedNet hopes to fuel innovation around rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The company’s…

Novel research into AADC enzyme may help advance treatment

Scientists created a new cell model of AADC deficiency that has allowed them to understand exactly how two disease-causing mutations in the DDC gene affect the AADC enzyme. According to the team, the new model “is useful to study the molecular basis of the disease.” It “recapitulates some key…