New study highlights genes that protect against disease

A new study has highlighted some of the genes carried by those with disease-protective factors.

Led by the Mount Sinai School of Medicine, this research represented the largest genome study to date and reported the first systematic search across hundreds of Mendelian disorders to identify the genes that can prevent conditions from emerging.

DNA from 12 previously collected data sets was analysed using a newly-developed targeted sequencing panel to screen 874 genes for 584 distinct genetic diseases, including metabolic conditions, neurological diseases or developmental disorders present in childhood with severe symptoms.

A sophisticated, in-depth analysis process identified 13 healthy people with genetic variants associated with eight diseases. It has not yet been possible to contact them, but it is thought that by studying them, new discoveries about natural protections against disease could be made.

Dr Eric Schadt, professor of genomics at the Icahn School of Medicine at Mount Sinai, said: "Millions of years of evolution have produced far more protective mechanisms than we currently understand. Characterising the intricacies of our genomes will ultimately reveal elements that could promote health in ways we haven't even imagined."