Newly discovered genetic variants in a single gene cause neurodevelopmental disorder

Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect how the brain functions.

How “Pioneer” Protein Turns Stem Cells into Organs

Early on in each cell, a critical protein known as FoxA2 simultaneously binds to both the chromosomal proteins and the DNA, opening the flood gates for gene activation, according to a new study led by researchers in the Perelman School of Medicine at the University of Pennsylvania. The discovery, published in Nature Genetics, helps untangle mysteries of how embryonic stem cells develop into organs.