News

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

A specific variant in the DDC gene is associated with higher dopamine excretion and production in the kidney, as well as altered function of aromatic l-amino acid decarboxylase (AADC), according to a study. The study, “A new common functional coding variant at the DDC gene change…

Pakistan has a high rate of inherited metabolic disorders (IMDs) and needs better facilities and resources for improving the screening, diagnosis, and genetic counseling of families across the country, a nationwide screening study says. In two years, 88 cases were confirmed of organic acidurias (OA), aminoacidopathies…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

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…