Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered. The condition is caused by changes in a small noncoding gene called RNU2-2. It is estimated to affect thousands of individuals in the United States and account for about 10 percent of all recessive NDD cases with a known genetic cause. The work was done in collaboration with U.S. collaborators in the Undiagnosed Diseases Network led by colleagues at Stanford University and international collaborators in the United Kingdom, the Netherlands, Belgium, and Italy. The findings, published in the March 30 issue of Nature Genetics [https://doi.org/10.1038/s41588-026-02539-5], provide long-awaited answers for many families and may inform future drug development.

Large-scale genomic analysis of Latin American cohort supports universal genetic architecture of autism and advances equity in precision medicine

Scientists at Oregon Health & Science University have uncovered a previously unknown system of internal “trade winds” that help cells rapidly move essential proteins to the front of the cell, reshaping how researchers understand cell migration, cancer spread and wound healing.

The discovery, published today in Nature Communications, reshapes what researchers thought they knew about how cells direct proteins to the right place at the right time.

A research team from the Department of Pathology, School of Clinical Medicine, LKS Faculty of Medicine of the University of Hong Kong (HKUMed), in collaboration with the HKU State Key Laboratory of Liver Research, has found that Resmetirom, a drug approved by the U.S. Food and Drug Administration (FDA) for treating metabolic dysfunction-associated fatty liver disease (MAFLD), demonstrates benefits beyond reducing liver fat and fibrosis. The study shows that the drug also has potential to prevent and suppress liver cancer caused by fatty liver disease. The findings were published in the international journal Hepatology.