The misdiagnosis and delayed diagnosis of AADC deficiency is common and can prevent patients from getting timely access to the treatment they need, most often resulting in poor outcomes. That’s according to a report of 16 patients in the Middle East, one of whom was found to carry a…
The 10th annual Rare Disease Genomics Symposium, hosted by the University of Alabama at Birmingham (UAB), will showcase the latest research into rare genetic diseases and focus on next-generation genetic testing and patient empowerment, the university announced. The free in-person and virtual symposium, set for Friday, brings together…
A diagnosis of AADC deficiency is often delayed, leading to poor clinical outcomes, as reported for three children in Saudi Arabia, one of whom carried a previously unidentified disease-causing DDC gene mutation. “There is an urgent need to raise awareness and improve diagnostic testing for rare diseases such as AADC deficiency…
Genomenon, an artificial intelligence (AI)-driven genomics company, is teaming up with three disease research foundations to develop comprehensive genomic data on rare genetic neurodevelopmental disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The goal is to advance precision medicine — a form of medicine that uses information…
Global Genes and the Rare Disease Diversity Coalition (RDDC) have launched Know Your Family History, an initiative to raise awareness of the importance of learning about the health and medical histories of one’s relatives. The project’s aim is to create a path toward…
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