A new computational model, called popEVE, can predict the likelihood of harm from a DNA mutation, even when the variant is extremely rare or has never been observed before, according to a new study. The tool was able to pinpoint potentially damaging mutations in children with developmental disorders — including…
Discussion
Our family is packing our suitcases once again, but this time it feels different. Instead of bracing ourselves for a long journey ahead, Judy, my wife, and I find our excitement rising each day as we prepare for a short 10-day trip back to the U.S. We’ve been looking forward…
In a major effort to strengthen rare disease care and research collaboration across the U.S., the National Organization for Rare Disorders (NORD) announced it is expanding its Rare Disease Centers of Excellence Network by welcoming seven additional academic medical and research centers in five states. With these new sites,…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic and neurometabolic disease that affects the nervous system. Learn more about the disease here.
AADC deficiency can affect many aspects of a person’s life, including mobility, breathing, sleeping, and eating. Learn more here about different ways to manage the condition, adapt, and handle everyday tasks.
There is not yet a cure for AADC deficiency, but there are approved treatments that can help manage the condition, as well as experimental treatments in the pipeline. Learn more about treating the disease here.
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