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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…

Children with early-onset obesity have a higher burden of rare genetic variants involved in obesity than controls, suggesting that genomic analysis may improve individualized follow-ups and genetic counseling to families. The study, “Heterozygous rare genetic variants in non-syndromic early-onset obesity,” was published in the International Journal of Obesity.

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…

A protein known as the steroid receptor coactivator-1 (SRC-1) helps regulate body weight by controlling the function of neurons involved in eating impulses, a study reveals. The study, “Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis,” was published in the journal Nature Communications.

Researchers have created a tool — a genome-wide polygenic score (GPS) — to predict a person’s genetic susceptibility to excess weight and obesity from early life into adulthood. This predictive tool could offer new opportunities to improve clinical prevention and provide new insights on the underlying…