Maps

“The most wondrous map ever produced by human kind.”  Bill Clinton, US President

‘While the DNA sequence reveals the fine details of our genome, maps offer the signposts by which we can navigate through this molecular landscape. Producing high quality maps was a crucial step in the "map first, sequence later" strategy of the Human Genome Project.’ Nature magazine

‘Could it have been the drawing of maps that boosted our ancestors beyond the critical threshold which the other apes just failed to cross?’ Richard Dawkins, Unweaving the Rainbow, Penguin, 1998

‘A little frame of images and rhyme/ That tries to glitter brighter than its flaws/ and trick the truth into its starry net.’ Maura Stanton, Computer Map of the Early Universe

‘One of the first aims of the Human Genome Project was to produce a map of the human genome. As well as being invaluable in its own right, the map provided a basis for sequencing where the results are from known locations and therefore are of immediate value.’ YourGenome.org

‘…and the maps which underpin the sequencing work are reported here in detail by The International Human Genome Mapping Consortium. We also present a range of physical analysis of sub-sets of chromosomes, including the Y chromosome, which due to unusually large areas of duplication proved particularly difficult to map accurately. A variety of techniques are  represented in this collection of papers from broad BAC-clone cytogenetic mapping, to fine maps of human variation in the form of 1.42 million single nucleotide polymorphisms. Together this collection of papers, to quote former US president Bill Clinton, amount to, "the  most wondrous map ever produced by human kind”.’ Nature magazine

Genomic Map

Map of our own cosmos -

join-the-dots, genetic stars

of our own uncovered night;

skeletal lights scattered -

in swimming black blood

of a secret organic space -

where potential crackles;

storm, magnetism, fires -

unstable elements, gases,

fight, combine like lovers;

dead bone lumps orbiting,

still inhabit a hording sky.

Brain, eye, hand, computer,

building the astounded ship,

explorer over unknown seas;

Columbus dreaming of white sails

across the moon - a luminous blue

hand upon the wheel - and planets

telling tales of time, new molecules,

coming of light; such stirring under

water - dinosaurs, animals, flowers.

We are unfurled - flags fly, planted

in our ground - secrets are claimed,

travellers then tourists will descend

to marvel, to use us for good or ill;

our popular pathways will become

worn, are as rich in gold, minerals

fought over - treasure maps marking

X or Y, answers to cancers, bullseye

target for drugs; they will try to paint

their colours on the flags - rivals, enemies,

good men and guardians; write their name,

file claims, write deeds - meaning as much

as the certificates saying you own part

of the moon; that a star has been named

in your honour - or to honour your dead.

‘With the aid of genetic maps - where sequence landmarks help to navigate around the vast landscape of the human genome - scientists have been able to pinpoint the genetic mishaps that underpin some human diseases without any prior knowledge of the cause. In 1986, the first gene for an inherited disease - the gene defective in chronic granulomatous disease - was identified using only genetic mapping strategies. Gene hunters have since collected an impressive range of trophies, with the genes for hundreds and hundreds of inherited diseases identified. Meanwhile, triumphs in finding genes that influence common diseases and human behaviour are far fewer, in part because the hunt is complicated by the influence of multiple genes as well as environmental factors thrown in. Nonetheless, genes that influence mood, eating habits, heart disease and diabetes have surfaced. DNA has influenced medicine in other ways. The advent of DNA recombinant technology has made it possible to manufacture important human proteins, like insulin and growth hormone, for treating disease. …doctors have been able to look at the profile of gene activity in some cancers to make more accurate diagnoses and decide on the most effective treatments. But many DNA-based cures for human disease - such as gene therapy strategies to replace a defective gene with a healthy version - are still a long way off.’ BBC Science, 2003

‘The NHGRI has initiated the ENCODE Project to begin the development of the human genome 'parts list'. The first phase will address the application and improvement of existing technologies for the large-scale identification of coding sequences, transcription units and other functional elements for which technology is currently available. When the results of the ENCODE Project show evidence of efficacy and affordability at the pilot scale, consideration will be given to implementing the appropriate technologies across the entire human genome.’ A Vision for the Future of Genomics Research, US National Human Genome Research Institute, 2003

Genomic Map, Uncharted Territory

What does a genomic map of the heart look like?

A rose in Swarovski crystals? But there is no red

in this country beyond colours needing light;

it is imagination that will not stop painting -

an orange-net of stars? A bag of silver burrs?

It cannot be done, thinking of a beating heart

without seeing symbols of love, heart shape;

not an organ like a bloody plum with tubers,

unpleasantly pulsing like a Star Trek alien -

even Christ’s white heart is shown radiating

from transparent skin - something you can see -

love like gold flames and light. The co-ordinates

of the heart must be silver, shining

in this genetic-level dark, or cannot

be understood, as numbers, sequences;

and when the map of man is complete,

what is this shimmering stuff left uncharted,

inexplicable; these midgey clouds of firefly

lights, hanging around roads and castles -

paths, wilderness and viaducts; great seas,

unpassable mountains - still uncharted territory,

unknown substance in the universe - not matter,

but particular energy; anchored here, glued

to the Genome by some mysterious binding.

‘One useful research resource would be a 'healthy cohort', a large epidemiologically robust group of individuals with unusually good health, who could be compared with cohorts of individuals with diseases and who could also be intensively studied to reveal alleles protective for conditions such as diabetes, cancer, heart disease and Alzheimer's disease. Another promising approach would be rigorous examination of genetic variants in individuals at high risk for specific diseases who do not develop them, such as sedentary, obese smokers without heart disease or individuals with HNPCC mutations who do not develop colon cancer.’ A Vision for the Future of Genomics Research, US National Human Genome Research Institute, 2003