Genes, that is. The Independent has a story on a breakthrough in genetics. Looks like alleles may be a little bit more complex than we were led to believe.
Matthew Hurles, one of the project’s leaders at the Wellcome Trust Sanger Institute in Cambridge, said the findings show each one of us has a unique pattern of gains and losses of entire sections of our DNA.
“One of the real surprises of these results was just how much of our DNA varies in copy number. We estimate this to be at least 12 per cent of the genome – that has never been shown before,” Dr Hurles said.
Scientists have detected variation in the “copy number” of genes in some individuals before but the sheer scale of the variation now being discovered is dramatic.
“The copy number variation that researchers had seen before was simply the tip of the iceberg, while the bulk lay submerged, undetected,” Dr Hurles said.
“We now appreciate the immense contribution of this phenomenon to genetic differences between individuals,” he said.
Make no mistake. This is huge. And it makes total sense. Genetics was always viewed as something rather simplistic. However, it looks like heredity is far more complex, especially over numerous generations.
But it is also becoming apparent that many diseases appear to be influenced by the number of copies of certain key genes, said Charles Lee, another of the project’s leaders at the Brigham and Women’s Hospital and Harvard Medical School in Boston, Massachusetts.
“Many examples of diseases resulting from changes in copy number are emerging. A recent review lists 17 conditions of the nervous system alone, including Parkinson’s disease and Alzheimer’s, that can result from such copy number changes,” Professor Lee said.
“Indeed, medical research will benefit enormously from this map, which provides new ways for identifying genes involved in common diseases,” he said.
So now there will be a new opportunity to develop new screening tests for various genetic diseases and allow for faster diagnosis and earlier treatment.
Hopefully it won’t be too long before these researchers have Nobel knocking. This stuff is truly revolutionary.