Medicine–Disease–Unease –Cures–Prediction–


Disease – Unease – Cures – Prediction – Implication - Medication…

“We now have the possibility of achieving all we ever hoped for from medicine.” Lord Sainsbury, UK Science Minister

‘Compared with the knowledge to be gleaned from the genome, the whole of the rest of biology is but a thimbleful.’ Matt Ridley, Genome: The Autobiography of a Species in 23 Chapters, Fourth Estate, 2000

"Putting the data out there enables thousands of people to use it, think about it, to put their brains to work on it, to use it for their clinical problems in a free and easily accessible way… ‘ Martin Bobrow, Professor, Medical Genetics, Cambridge University, UK

This is an extraordinary moment in the history of science and medicine - we now have the building blocks to understand far more about our bodies and thus about disease and health. This new knowledge is a beginning - a beginning to the development of new diagnostic tests, new treatments, perhaps even new cures. It may in fact be the beginning of the end to huge areas of human suffering. This new knowledge is a powerful tool. Biomedical scientists must show that we can be trusted to use this tool ethically, sensibly and in ways which will be sensitive to the controls the public would wish to see in place.’ Professor Vivienne Nathanson, Head of Ethics and Professional Resources, British Medical Association.

‘In the past decade, many of the biological applications of genetic and genomic information to the problems of medicine development and delivery were not possible. These applications required the tools provided by the Human Genome Project. The next decade will see three new applications of genetics to medicine: (i) identification of disease-associated genes in target classes that are amenable to high-throughput drug screening; (ii) inexpensive high-throughput genotyping technologies and new statistical algorithms for rapidly defining multiple gene variants associated with a defined phenotype; and (iii) a pharmacogenetic system approved by regulatory authorities that facilitates delivery of safe and effective medicines. The genome era begins...’ Allen D. Roses, Nature, 2003

‘Gene genie: All the rows, all the ethical problems and all the money spent in pursuing the human code for life will have been well worth it if it fulfils even some of its medical promise. The potential prizes certainly glitter. In the far future, it may be possible to prevent genetic diseases from being inherited by cutting them out of the gene pool once and for all, so-called germline engineering. At the nearer end of the time scale, genetic tests are allowing people to choose suitable therapies and lifestyles to beat disease. And in between, lie further tantalising prospects: thousands of new drugs for previously untreatable diseases, drugs tailored to individuals, so with far fewer side effects, the ability to replace faulty genes, short-circuiting diseases at source.’ Dr Damian Carrington, BBC Science

‘In the next 15 years, detailed analysis of the structure of this chemical [DNA] is going to change the face of medicine fundamentally.’ Dr John Collee, Observer, 1992

‘The fact that it was an unthinkably difficult task just 15 years ago makes its completion all the more dramatic… The 2m-long string of DNA found in nearly every human cell contains the instructions for every physical aspect of your body, from the pattern of fine capillaries in your lungs to the unique speckled pattern of your iris. Access to such fundamental information promises a new era of medicine and long-term hope for sufferers of a myriad of illnesses.’ BBC Science

‘Translating genome-based knowledge into health benefits - The sequencing of the human genome, along with other recent and expected achievements in genomics, provides an unparalleled opportunity to advance our understanding of the role of genetic factors in human health and disease, to allow more precise definition of the non-genetic factors involved, and to apply this insight rapidly to the prevention, diagnosis and treatment of disease. The report by the US National Research Council that originally envisioned the HGP was explicit in its expectation that the human genome sequence would lead to improvements in human health, and subsequent five-year plans reaffirmed this view. But how this will happen has been less clearly articulated. With the completion of the original goals of the HGP, the time is right to develop and apply large-scale genomic strategies to empower improvements in human health, while anticipating and avoiding potential harm…The time is right for a focused effort to understand, and potentially to reclassify, all human illnesses on the basis of detailed molecular characterization. Systematic analyses of somatic mutations, epigenetic modifications, gene expression, protein expression and protein modification should allow the definition of a new molecular taxonomy of illness, which would replace our present, largely empirical, classification schemes and advance both disease prevention and treatment. The reclassification of neuromuscular diseases and certain types of cancer provides striking initial examples, but many more such applications are possible.Such a molecular taxonomy would be the basis for the development of better methods for the early detection of disease, which often allows more effective and less costly treatments. Genomics and other large-scale approaches to biology offer the potential for developing new tools to detect many diseases earlier than is currently feasible. Such 'sentinel' methods might include analysis of gene expression in circulating leukocytes, proteomic analysis of body fluids, and advanced molecular analysis of tissue biopsies. An example would be the analysis of gene expression in peripheral blood leukocytes to predict drug response. A focused effort to use a genomic approach to characterize serum proteins exhaustively in health and disease might also be highly rewarding.’ A Vision for the Future of Genomics Research, US National Human Genome Research Institute, 2003

‘Identifying genes can now be done in days instead of years. But for medicine, the real challenge is to move from knowing which malfunctioning gene or genes cause a particular condition to knowing how to do something about it. For this, they will need to understand better how the proteins - the sophisticated molecules which cells make from the gene "templates" - interact to build and maintain our bodies. The science of genomics may be well established but the science of proteomics is still in its infancy. There is, as Professor Bradley said, "a long road" to travel.’ BBC News, 2003

An era of healing, if not of much needed peace –

An era of healing, if not of much needed peace –

among the world’s colossal unnecessary deaths;

hunger and violence, deconsecration

of life, corruption of miraculous red,

comes physical salvation from unchartered

landscape - promising topography untrod -

from organic pattern - connection,

we are plotting alien internal stars,

among our own dark, chemical galaxy -

new moons now appear; rooted, seeded

in such discovered earth – so radiant

with possibility. Written elucidation

requiring to be read now; deciphered

for bad words - white poetry of cures.

“When we know the face of the enemy... we will try to cure the disease or lessen its effects.” James Watson, Co-discoverer of the structure of the Double Helix

‘How are the human genome sequencing results used? Because the DNA sequencing (and earlier DNA mapping) results from the Human Genome Project are made available daily without restriction, biologists and biomedical researchers worldwide are able to use them to understand biology and to look for new medical tools in the diagnosis and treatment of disease. More than 200 genes that play a role in human disease have been identified using the results from the HGP mapping and sequencing projects.’

‘‘Genomics research will have a major impact on our understanding of human disease…Genomics will also dramatically influence healthcare: it will allow doctors to diagnose disease earlier and more precisely and to prescribe medicines more securely; pharmaceutical companies will develop better and safer drugs;and those who plan and fund health services will be able to assess the relative impacts of medicine, nutrition,and environment/ lifestyle on health and disease. Some forecasters anticipate that genomics will effect a transformation in the health services. Genomics yields information. Knowledge about our individual genomes will indicate more precisely those diseases to which we are each susceptible and the medicines to which we best respond. Genomics can also help reveal the causes of common killer diseases and has the potential to identify individuals who are particularly susceptible to a given disease long before that disease becomes apparent. …Of course,such early warnings of disease possibilities could make people anxious. This is why counselling must be put in place alongside genetic analyses. Given the resources to use the new knowledge, genomics could make medicine much more personalised, holistic, and effective.’ Medical Research Council, UK

Medical Revelation

Medical revelation; Genome in lights,

unscrambling sickness’s black script -

arcane mechanisms crashing systems,

apparatchik cells disrupting the dance;

chemical harmonies taking air, letters,

to make a child’s cheek, corrupted -

gangrene, Ebola; physical nightmares

bred in the poem’s delicate wording -

her ancient intricacies; where maybe

all is present for cures – alleviation -

as some believe forests contain

all medicines we ever required;

the means of our physical salvation

already present, laid down, as wine

of life - fermenting healing sugars -

magical elixirs cultivating, brewing

cures at genetic level - re-stringing,

tinkering, re-writing the scrawling,

beautiful script; amending, deleting,

correcting, highlighting, re-working

historic text, at such gain and peril;

breathtaking gifts, advances, thefts.

But the shifting Genome is shivering

entire, her modern work now assailed,

assaulted by environmental wickedness;

mutations, threat, toxicity, polluting her

dream factories, production, manifestations -

infesting reading molecules with alien adverts.

‘Genome-based information is of little use if people do not know how to use it properly. In healthcare, the interpretation and explanation of genetic test results will require increased numbers of trained genetic counselors. Doctors and other health care professionals, who have already expressed apprehension about handling genetic information, would benefit from additional training, while human resources professionals and those in the insurance industry will need to understand the meaning of genetic information. Even in research and development, there is a dearth of people who combine an understanding both of biology and the computational and mathematical methods needed to interpret all the data that genomics generates.Cross-disciplinary collaboration and multi-skilled researchers will be important in ensuring that genome information provides appropriate economic and social benefits.’ Medical Research Council, UK

"The Genome Project is, at the least, a magnificent tribute to modern biological science and international collaboration. Unthinkable even a decade ago it exemplifies the ever-increasing pace and developments that have taken place over recent years. What will it mean for medicine? In many ways it is a starting point rather than an array of instant magic bullets. The sequence of more than 100,000 genes will be known. The functions of most of these genes is unknown. A vast amount of hard painstaking work is now needed to discover the products of these genes and then to establish the functions of these coded proteins. This will, of course, yield valuable information on the biological processes that control life. …In summary, the genome project is a breathtaking tribute to focused modern science - the potential for benefit to medicine is large. It is up to all of us to ensure that the benefits outweigh the dangers and that we do not end up regretting this magnificent achievement - which has often been the case with scientific advances." Professor Sir George Alberti, PRCP

‘Once I would have asked/ healing. I go now to be doctored, to drink sinlessly of the blood of my brother, to lend my flesh as manuscript of the gret poem/ of the scalpel.’ Emerging, RS Thomas

‘[Francis] Bacon also said: "Words turn back and reflect their power upon the understanding."The phrases current in genetics that most plainly do violence to understanding begin "the gene for": the gene for breast cancer, the gene for hypercholesterolaemia, the gene for schizophrenia, the gene for homosexuality, and so on. We know of course that there are no single genes for such things. We need to revive and put into public use the term 'allele". Thus, "the gene for breast cancer" is rather the allele, the gene defect - one of several - that increases the odds that a woman will get breast cancer. "The gene for" does, of course, have a real meaning: the enzyme or control element that the unmutated gene, the wild-type allele, specifies. But often, as yet, we do not know what the normal gene is for.’ Horace Freeland Judson, Director, Center for History of Recent Science, George Washington University, Washington, US, Nature, 2001

Virtual Dissection

Living slab - virtual dissection;

letter strings strung with lights,

chemical energy-clusters buzzing,

to produce something tangible -

spelling brilliant words of health -

dark stuttering syllables of disease,

black stark writing of mined death;

lying innocently - quiet as any cell,

biding wicked time - plotting

contamination; maybe wonky

cancer cells - crazy, insane

fuckers, making like rabbits;

maybe just slow, lingering sickness,

crippling limbs - making twitches -

wrong messages, fucked-up muscles,

until you can’t even cry about it -

but here is our Encyclopaedia opened;

pages crammed, valuable information

in plenty to keep a dedicated army busy

with nothing in mind but healing, curing,

stopping suffering; in the abstract first, then

rejoining the body, like Peter Pan’s shadow.

‘The scientists have found that human beings have far fewer genes than they thought, about 30,000, perhaps just a few hundred more than a mouse. But decades of work await researchers as they try to unravel the results of the Human Genome Project. Understanding how to fix faulty genes is expected to lead to new treatments and ultimately cures for a vast range of conditions from heart disease and cancer to some types of depression and addiction. "For most common diseases like diabetes and common forms of cancers and psychiatric diseases, genes explain in the order of half the variations between people," said Dr David Altshuler, a geneticist at the Whitehead Institute for Biomedical Research in the US. "If we can understand the half that is in our genes, which is ultimately going to boil down to the differences in our genetic codes, we would know a lot that we don't know today”.’ BBC News, 2001

‘… the work of turning the base pair data (of the genome) into the gold of new treatments has already begun, according to Dr Francis Collins, head of the US National Human Genome Research Institute. "I keep a tally of the genes that are responsible for human diseases that are identified over the course of a year. In a good year, in times gone by, there might have been two or three. Last year, there have been 29 discovered." Private companies have also combed the data to find genes that play roles in diabetes, asthma, psoriasis and migraines.’ What the genome can do for you, BBC Science, 2000

We have become as glass

We have become as glass -

our skin nothing, transparent

to the core; beyond material

core to the dreaming codes -

typographical errors, blots,

crossings out and erasures;

black writing like an evil thought

manifest in light, sickened flesh -

violent mind molecules vibrating,

operating - self-destructing cells.

Our doctors and scientists

have been working blind -

electron microscope just thick glasses,

kitchen roll tube compared to Hubble;

and now dramatically unveiled,

stripped to essential mechanism,

how many bright visions of cure

swim into unaccustomed light -

how much comfort for the ill and loved;

more wretched suffering of the unloved.

‘Just one part of this work - the sequencing of chromosome 20 - has already accelerated the search for genes involved in diabetes, leukaemia and childhood eczema. "We shouldn't expect immediate major breakthroughs but there is no doubt we have embarked on one of the most exciting chapters of the book of life," he said. American institutions have been the major partners in the decoding programme. Dr Francis Collins, director of the National Human Genome Research Institute, US, also pointed to the long-term gains that would come from the information. "One of our projects is to identify genes that predispose to type II diabetes. "This disease affects about 1 in 20 people over 45 and its incidence appears to be increasing. Using freely available map and sequence information [we] have been able to close in on the likely gene on chromosome 20 that is altered in type II diabetes.’ BBC News, 2003

‘DNA-based tests have several potential advantages. First,they are very sensitive. A simple swab inside the mouth, rather than collecting blood, will provide enough cells for diagnosis. Second, DNA-based tests are potentially simple and rapid. In the near future, some tests could be performed in doctors’ offices, out-patient units, or even at home, rather than in specialist laboratories.’ Medical Research Council, UK

Note from the author
exploring the project

    Gene Story
    Romantic Science
        Gene Therapy
        Stem Cells
    Some Special Genes
    X & Y

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