A team of scientists has identified a key enhancer of Sox9 — a gene critical for male sex development — and demonstrated that deleting the enhancer results in male-to-female sex reversal in animal models.
Lack of a receptor regulating mitochondrial metabolism was linked with kidney dysfunction including kidney disease, according to a recent study.
A team of scientists has discovered that in children with epilepsy thought to be caused by a spontaneous mutation, about 10 percent of parents in fact carry the same variant in a small proportion of their own cells.
Genetic mutations dysregulating synapse function contribute to a toxic cascade that leads to neurodegeneration in Parkinson’s disease, according to a Northwestern Medicine study.
Northwestern Medicine scientists have discovered an epigenetic imbalance that can lead to cancer, and used these findings to inhibit tumors in models.
Mutations in a gene called DBR1 may increase patients’ susceptibility to brain infection, according to a study published in Cell.
Scientists discovered the regulatory role of the enzyme CDK5 in an aggressive form of brain cancer and successfully halted tumor growth by inhibiting it.
In new clinical trials, a gene therapy for a serious blood disorder called beta-thalassemia significantly improved outcomes among patients, without serious side effects.
Scientists found more than 100 possible cancer-causing mutations and defective alleles in a large-scale genetic analysis of pediatric cancers that was co-authored by Elizabeth Perlman, MD, and published in Nature.
Scientists have developed software that can forecast the survival of patients diagnosed with glioma that is more accurate than physicians’ predictions.