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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Treatment with AGIL-AADC gene therapy induces sustained improvements in motor, cognitive, and language measures in children with aromatic L-amino acid decarboxylase (AADC) deficiency for up to five years, researchers report. Their work, “AGIL-AADC Gene Therapy Results in Sustained Improvements in Motor and Developmental Milestones Over 5 Years in…

Gene therapy with small RNA molecules may be a promising therapeutic strategy to correct RNA processing errors in aromatic l-amino acid decarboxylase (AADC) deficiency, a study says. The findings of the study, “Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene,” were published in Human…

Since its founding in 2013, the International Working Group on Neurotransmitter related Disorders (iNTD) has been building a network and patient registry aimed at promoting knowledge and awareness among clinicians on rare neurotransmitter disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency. Over the past several years, the collaboration has expanded…

Gene therapy has demonstrated the ability to improve motor function in movement disorders, including ones triggered by aromatic L-amino acid decarboxylase (AADC) deficiency, a study reports. According to the researchers, better motor performance observed in children with AADC deficiency after undergoing gene therapy may be associated with improvements in brain…

Drugs used in Parkinson’s disease were seen to increase muscle tone and reduce eyelid droopiness and involuntary upward deviation of the eyes in a boy with aromatic L-amino acid decarboxylase (AADC) deficiency. The case report, “Feeding difficulty and developmental delay for 8 months and nystagmus for…

A technique that measures the levels of different metabolites — the products of cellular metabolism — of dopamine could serve as a non-invasive method to diagnose AADC deficiency, a study says. The study, “Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations,” was published…

A recent report reviewing the use of gene therapy for Taiwanese patients with aromatic l‐amino acid decarboxylase (AADC) deficiency suggests that such strategies may one day lead to a cure for this condition. The report, “A review of aromatic l‐amino acid decarboxylase (AADC) deficiency in Taiwan,” was…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…