Molecular autopsies can reveal genetic risk factors in young people who unexpectedly die, but proper interpretation of the results can be challenging, according to a recent study.
A team of scientists has identified thousands of lincRNAs — long non-coding RNA molecules produced by so-called “junk DNA” — that are unique to human fat cells and may play an important role in fat metabolism.
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.