Today, 25 April is a joint celebration for geneticists, commemorating the discovery of the helix nature of DNA by James Watson and Francis Crick in 1953 and the completion of the human genome project fifty years later in 2003. It may have taken half a century to map the human genome, but in the years since its completion the field of genetics has seen breakthroughs increase at an ever-accelerating rate.
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Analyses of Neanderthal genomes indicate that when anatomically modern humans ventured out of Africa around 50,000 years ago, they met and mated with Neanderthals, probably in regions of the Eastern Mediterranean.
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NHS England is creating 11 Genomic Medicine Centres designed to deliver its ambitious 100,000 Genomes Project. In the broader sense it is an undeniable sign that genomics is poised to transform human medicine by improving the efficacy of medical diagnosis and personalized treatment.
This is a major step in the implementation of the Genomics England initiative, which offers a high profile glimpse of a future in which it becomes commonplace to use genomic information to improve our lives – starting with our health. Located in major city hospitals from Newcastle to Manchester to Cambridge to London, these centres will collect samples from patients suffering from cancers and rare diseases and put the United Kingdom at the forefront of genomic medicine.
From each donated sample, taken with due diligence and promised anonymity, will come invaluable medical information married to genomic data. The complete data set will build a lasting knowledge legacy for future generations and is ideally just the start of what will come to be known as the ‘practical genomic revolution’.
Sampling 100,000 people is still only a tiny proportion of England’s 53 million inhabitants, but it means anyone living in this country will be far more likely to know someone who has contributed their genome to science in the hopes of helping humanity and eventually themselves.
Perhaps you have already entered the world of DNA self-study?
Completed in 2003, the 50th anniversary of the discovery of the structure of the DNA double helix by Watson, Crick, Wilkins and Franklin, the Human Genome Project was the first “Big Science” project in biology. In only five decades, science has leapt from the discovery of the DNA helix to reading the entire human blueprint. In the last 12 years, ever-larger projects have followed, such as the 1000 and 10,000 genome projects, and the cost of sequencing a human genome plummeted to a level where the NHS can invest in a 100,000 Genomes Project as a crucial part of its strategy to protect and improve human health.
What might happen in the next five years? Where will we be by 2020?
As we enter the year 2015, few realize that it actually marks the 20th anniversary of the genomic revolution. It was in 1995 that Craig Venter, one of the leaders of the private human genome project and now founder of Human Longevity (a company working towards a million human genomes), and colleagues published the first complete genome sequence of a free-living organism – the bacterium Haemophilus influenzae. We now have the genomes of thousands of microbes and an array of species across the Tree of Life. Large-scale sequencing projects are taking off. This month alone saw announcements that the Smithsonian Institution will launch a virtual Biodiversity Genomics Institute on the back of its Global Genome Initiative, and Russia will create a DNA databank of every living thing by 2018.
The early signs of the coming ‘practical genomics revolution’ are growing more visible. Analysis of DNA is starting to impact us more directly. How many of us as individuals, or family units, have submitted our own DNA already for analysis of paternity, kinship, ancestry, or health? How many are even more ahead of the curve and ventured to submit samples to uBiome or the American Gut Project to look at gut microbes, our “second genome”? How many have checked the contents of food — is your hamburger really cow? Or used DNA information to breed animals, from dogs to cats to livestock, where the presence of the ‘pulled’ gene, which stops horns from developing in cattle is highly desirable?
Perhaps these scenarios are still far from common place, but they are certainly real.
The website DNA Testing Choice now holds a catalogue of hundreds of DNA testing options. The most famous, perhaps, 23andMe, a company that flew in the face of the US Food and Drug Administration (FDA) and had its health-related genotyping services in the United States closed down in late 2013, is now open for business in the United Kingdom. Branded as a DNA ancestry company in the United States, it is now offering health-related reports in the UK-based arm of the company. The company advertised in late 2014 ‘what better Christmas gift to give than a genome?’ Pricing starts at £125.
The sequencing of large cohorts of humans and deeper research into the human microbiome, the trillions of microbes that live with us, will produce the science headlines of 2015 and beyond.
Will you or your loved ones have your genomes sequenced in 2015? Will you opt for participation in research projects that are opening their doors to the public or turn to the consumer genetic marketplace?
By 2020 society will likely look back on 2015 as a turning point in human history — the start of the ‘practical genomics revolution’.
Headline image credit: DNA. CC0 via Pixabay.
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Two of the biggest scientific breakthroughs in paleoanthropology occurred in 2010. Not only had we determined a draft genome of an extinct Neandertal from bones that lay in the Earth for tens of thousands of years, but the genome from another heretofore unknown ancient human relative, dubbed the Denisovans, was also announced.
A one-hundred-year-old conundrum was finally answered: did we mate with Neandertals? It was now undeniable that modern humans, with all our modern features – our rounded craniums, prominent chins, gracile faces tucked beneath an enlarged forehead, and long, slender skeletons – had met and mated with both of these extinct ancient human-like beings. After comparison with the human genome, 2-4% of the genomes of all peoples outside Africa had been directly inherited from Neandertal ancestors. And, DNA from the Denisovans (named after the cave in southern Siberia where their bones were discovered) makes up 3% to 6% of the genomes of many peoples living in South East Asia (Philippines, Melanesians, Australian Aborigines).
We now believe that it is in the Levant, regions just east of the Mediterranean, where humans met and mated with Neandertals. Remains of Neandertals are well known from this region. When modern humans ventured out of Africa into the Levant approximately 50,000 years ago, they mated with Neandertals. When they later spread into South East Asia they mated with Denisovans, although mating probably occurred in other regions of Asia as well. We now have evidence suggesting the ancient Denisovans occupied a very large geographic distribution extending from Southern Siberia all the way to the South East Asian tropics. It is tantalizing that, other than their distinctive genomes and their somewhat robust-looking molars, we know close to nothing about what they looked like.
With these discoveries, the notion that modern humans would hardly have interbred with such dim-witted, brutish, and bent-kneed Neandertals – a reputation that had long dogged Neandertals since French Paleontologist Marcellin Boule studied them – was now clearly out of the question. Indeed, more recent research into the skeleton and the cultural artifacts of Neandertals has demonstrated their sophisticated material cultures (stone tools, body ornament, and symbolic culture) and that their skeletons, rather than being “primitive,” were adapted for the cold and for rugged daily physical activities. Furthermore, the almost paradigmatically-held view of a strict replacement of ancient peoples in Eurasia by colonizing modern humans is now laid to rest. This view, popularized in the 1980s and 1990s, rested on comparisons between the minute mitochondrial genomes (much less than 1% of our full genomes) of humans and Neandertals. Full genomes, as you can see, tell us a fuller and more fascinating story.
These breakthroughs open a window of fresh air into the field of anthropology after decades of speculation. They are simultaneous with advancements in detecting the genetic bases of common chronic human diseases like hypertension, obesity, and diabetes. Yet even these diseases have been shaped by our evolutionary past. Genomes tell us that our species has undergone contractions in population size during the evolutionary past, which reduced the effectiveness of natural evolutionary constraints, and allowed damaging mutations to slip through the cracks to take root in our genome. This is a new view of disease informed by evolution as well as genomes.
We are also making base-by-base comparisons of our genome with those of chimpanzees, gorillas, orangutans, as well as genomes of other primates, allowing us to start to look for the genomic bases of our unique features – our large and complex brains, our complex cognition, and our use of spoken language. At the same time, we are learning the degree to which there is a genetic continuum between us and our primate relatives. Darwin presciently wrote in The Descent of Man and Selection in Relation to Sex that “the difference in mind between man and the higher animals, great as it is, certainly is one of degree and not of kind.” Today, we are realizing Darwin’s dream.
We are also uncovering details about how different human populations adapted to hot and cold climates, high altitudes, different diets, and to the various pathogens modern humans encountered as we colonized different regions of the world. A large project is already well-underway to collect thousands of genomes of modern peoples from different regions of the world. Comparing these genomes allows the search for ancient footprints left by positive selection (the type of natural selection that shapes our adaptations). Surprisingly, the different pathogens we encountered as we left Africa and spread into different environments appears to have made some of the largest footprints on our genome.
The genomic highway has an unchecked speed limit; we are experiencing a unique problem where data is pouring in faster than it can be fully analyzed. Each new issue of our scientific journals is ripe with new, exciting discoveries unlocking intriguing secrets of our ancestry.
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