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…
News
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…
Genedx said changes to its whole genome sequencing (WGS) services will allow for faster diagnoses for patients with rare genetic disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The company said its rapid whole genome sequencing technology, capable of screening a person’s entire genetic makeup, now…
Since its launch 12 years ago, a program to incentivize drug development for rare diseases that affect children has led to the approval of dozens of new treatments, but without congressional action, the program is set to expire by the end of September. The National Organization for Rare Disorders (NORD)…
A novel diagnostic algorithm used in a pilot study in Germany was able to provide diagnoses for hundreds of rare disease patients in the country, including one with AADC deficiency, over a three-year period, according to a new report. The algorithm incorporates exome sequencing — a type of genetic…
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