A genetic variant of DDC, the gene encoding L-aromatic amino acid decarboxylase (AADC), contributes to worse somatic symptoms due to low levels of serotonin — a neurotransmitter that contributes to well-being and happiness — in circulation, new research suggests. The study, “A functional substitution…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
In a new study, investigators characterized the molecular consequences of two particular variants in the aromatic amino acid or dopa decarboxylase (DDC) gene at the protein level. It is hoped that better understanding such details will lead to better prognoses and, eventually, targeted therapies. The study, “…
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…
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