Genomic Autopsy Can Help Solve Unexplained Cardiac Death
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.
Browsing: "Genetics"
Long Non-Coding RNA May Play Role in Fat Metabolism
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.
Understanding the Epigenetics of Sex Determination
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.
Mitochondrial Dysfunction Contributes to Kidney Disease
Lack of a receptor regulating mitochondrial metabolism was linked with kidney dysfunction including kidney disease, according to a recent study.
Investigating Family Genetics of Severe Epilepsy
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.
Early Synaptic Dysfunction Found in Parkinson’s Disease
Genetic mutations dysregulating synapse function contribute to a toxic cascade that leads to neurodegeneration in Parkinson’s disease, according to a Northwestern Medicine study.
Resetting the Epigenetic Balance for Cancer Therapy
Northwestern Medicine scientists have discovered an epigenetic imbalance that can lead to cancer, and used these findings to inhibit tumors in models.
Genetic Mutation Linked to Viral Brain Infections
Mutations in a gene called DBR1 may increase patients’ susceptibility to brain infection, according to a study published in Cell.
Enzyme Blocker Stops Growth of Deadly Brain Tumor
Scientists discovered the regulatory role of the enzyme CDK5 in an aggressive form of brain cancer and successfully halted tumor growth by inhibiting it.
Gene Therapy for Thalassemia Shows Promise
In new clinical trials, a gene therapy for a serious blood disorder called beta-thalassemia significantly improved outcomes among patients, without serious side effects.