Low levels of the nerve signaling molecule dopamine, a feature of aromatic l-amino acid decarboxylase (AADC) deficiency, affect the growth at early stages of nerve fibers in a brain region important for movement, a mouse study reveals. Early nerve fiber growth in AADC-deficient mice lacked the precise guidance seen…
Florida State University (FSU) has received $5 million from the State of Florida to support its Institute for Pediatric Rare Diseases, which conducts research on rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, that affect children. The announcement was made by state representative Adam Anderson during…
Oct. 23 will mark the fifth annual AADC Deficiency Awareness Day: an event aimed at raising awareness and promoting education about aromatic L-amino acid decarboxylase (AADC) deficiency. The AADC Family Network will host this event, which includes a Facebook live presentation slated for 11 a.m. ET. The…
Direct delivery of gene therapies into the central nervous system (CNS) — an approach used by Upstaza (eladocagene exuparvovec), a gene therapy now under review in the U.S. as a treatment for aromatic l-amino acid decarboxylase (AADC) deficiency — may have advantages over gene therapies given into the…
An artificial intelligence (AI) model could identify possible therapies for thousands of diseases from existing treatments, according to Harvard Medical School researchers. These diseases include rare disorders such as aromatic I-amino acid decarboxylase (AADC) deficiency, for which there is currently no treatment. The model, called TxGNN, closely resembles the…
The Oxford-Harrington Rare Disease Centre (OHC) is hosting its biannual symposium on rare disease therapy development drivers, bringing together experts from academia, biotechnology, pharmaceuticals, venture capital, and patient advocacy to discuss the latest research, therapeutic strategies, and collaboration efforts for rare diseases such as aromatic L-amino acid decarboxylase…
Researchers have uncovered the effects of gene mutations that are associated with mild or moderate forms of aromatic L-amino acid decarboxylase (AADC) deficiency. In general, DDC gene mutations linked to milder cases were associated with greater residual activity of the AADC enzyme than in severe cases. Because most known…
Engineers and healthcare providers at the University of Illinois are joining efforts to accelerate the diagnosis of rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency with the help of artificial intelligence (AI). The goal is to use machine learning models to learn from available electronic medical records,…
Ambry Genetics announced a new genetic test designed to speed the diagnosis of rare genetic conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency. The company said the test, called ExomeReveal, combines whole exome sequencing (WES) with Ambry’s RNA analysis technology to shorten a patient’s diagnostic journey…
Running clinical trials for any rare disease is difficult, but steps like using innovative trial designs and taking advantage of real-world data can help facilitate these important studies across all rare conditions. That’s according to a new paper titled “Rare disease clinical trials in the European Union: navigating regulatory…
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