A $27 million grant will enable Cincinnati Children’s to continue to serve as the hub of a network of rare disease research centers for five more years. The grant, from the National Center for Advancing Translational Sciences, allows the hospital to continue as data management and coordinating center for the …
A newly developed cell model has been called “a significant step toward understanding the molecular mechanisms of AADC deficiency” and one that offers a platform for preclinical testing of new therapeutic candidates. “This model may pave the way for the development of precision therapies,” three researchers in Turkey and…
People affected by rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency require more than just medical support: These patients and their caregivers need a holistic approach that also addresses several unmet needs, such as providing social and financial assistance. That’s according to a new study, “…
Doctors at Boston Children’s Hospital say the gene therapy Kebilidi (eladocagene exuparvovec-tneq) can be life-changing for people with aromatic L-amino acid decarboxylase (AADC) deficiency, as was the case for a girl treated there. When the girl went in for gene therapy treatment as a baby in 2023, she…
Note: This story was updated July 22, 2025, to correct Nippon Shinyaku (NS) Pharma and Boston Children’s Hospital’s connection to AADC deficiency. Nippon Shinyaku (NS) Pharma will partner with Boston Children’s Hospital to study and develop treatments for rare diseases. “Through our strategic…
The Pennsylvania Senate has approved legislation to extend support for patients with rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency, by continuing the work of the Pennsylvania Rare Disease Advisory Council (PARDAC). PARDAC was established in 2017 to help Pennsylvania residents navigate life with a rare…
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,…
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…
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…
A podcast from the Pacific Northwest Research Institute (PNRI) called PNRI Science: Rare Disease, Real Progress returns for its second season with four episodes that explore how research into rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency is driving steps forward in healthcare. “Rare disease research is often…
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