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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…

Scientists have created a novel tool called SynthMD that can be used to generate artificial datasets for rare diseases, which could help accelerate the development of new software to advance rare disease research. A paper describing this work, titled “Synthetic datasets for open software development in rare disease…

A national research network in Canada is working to accelerate research and treatment advances for rare diseases that affect children, such as aromatic l-amino acid decarboxylase (AADC) deficiency. RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network aims to help streamline and support rare disease clinical research in order…

Eurordis is welcoming a recent call for the inclusion of health priorities, including an action plan on rare disorders, in the 2024-2029 European Union (EU) strategic agenda. The call was made by 27 health ministers of the Employment, Social Policy, Health, and Consumer Affairs (EPSCO) Council, which unanimously…