Note: This story has been updated May 25, 2023, to state that data from the two children in the report…
Articles by Steve Bryson, PhD
The route of administration now used for the gene therapy Upstaza (eladocagene exuparvovec) — directly into the brain region,…
PacBio‘s HiFi DNA sequencing technology will be used in a pilot project to detect new genetic variants associated with…
Researchers classified variants of the DDC gene that causes AADC deficiency according to their disease-causing potential, a study reported,…
A review of recent medical literature confirmed low muscle tone, developmental delays, and oculogyric crises — when the gaze becomes…
Symptoms that mimicked epilepsy led to the misdiagnosis of a Chinese infant girl with aromatic l-amino acid decarboxylase…
A novel gene mutation — which caused a case of aromatic l-amino acid decarboxylase (AADC) deficiency in a young…
The RTW Charitable Foundation will offer grants up to $150,000 per year to develop therapeutics for ultra-rare diseases, including…
In ongoing and planned clinical trials, The Ohio State University College of Medicine is working to advance a directed gene…
A new method has been developed that detects two biomarkers associated with aromatic l-amino acid decarboxylase (AADC) deficiency in…