Most Risk for Autism Comes from Common Genetic Variation, Not Rare Genes

Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches, researchers funded by the National Institutes of Health have found. Heritability also outweighed other risk factors in this largest study of its kind to date.

Genetic risk autism

Even Healthy People Carry Hundreds of Genetic Flaws

Nobody’s perfect, not even the healthiest among us. Scientists from the Wellcome Trust Sanger Institute and Cardiff University have determined that, on average, a normal healthy person carries approximately 400 protein-damaging DNA mutations and two mutations directly linked with a high risk of disease. The research was published in the December 7th issue of The American Journal of Human Genetics [1].

Hundreds of DNA mutations

Pluripotent Stem Cells and the Nobel Prize for Medicine

nobel medal in medicineThe 2012 Nobel Prize in Physiology or Medicine was announced earlier this week. The prize was awarded to two scientists for their work on reprogramming mature cells to become pluripotent.

The prize of 10-million-Swedish-krona (US$1.5-million) was divided, one half jointly to Sir John B. Gurdon, age 79, at the Gurdon Institute, Cambridge, United Kingdom, and Shinya Yamanaka, age 50, at Kyoto University, Kyoto, Japan and the Gladstone Institutes, San Francisco, California, USA, for the discovery that mature, specialized cells can be reprogrammed to become immature cells capable of developing into all tissues of the body.

Dark Matter DNA Active in Brain During Day-Night Cycle

Long stretches of DNA once considered inert “dark matter” of the genome — the over 98% of DNA that doesn’t code for proteins — appear to be uniquely active in a part of the brain known to control the body’s 24-hour cycle, according to researchers at the National Institutes of Health. The findings appear in the August 14th edition of the journal Proceedings of the National Academy of Sciences [1].

Dark Matter DNA

Complete Genomics: Top Innovative Company in Biomedicine

Complete Genomics is one of 10 biomedicine companies included in Technology Review’s 50 Most Innovative Companies (TR50) for 2012 [1].

Complete Genomics