Tag Archives: biomedicine

50 whys to look for genes: 21. Abnormal conditions provides insight about origin of normal conditions

Five offspring of a couple in a remote area of Turkey grew up walking quadrupedally on their hands and feet, as portrayed in the popular science documentary ‘Family That Walks on All Fours.’ Among the various angles of research on the siblings was genetic analysis identifying a mutation in a gene on chromosome 17 influencing cerebellum development and the work of certain evolutionary biologists try to link this gene to the evolution of human bipedalism 3 million years ago.  Indeed, other deleterious effects of the gene are depicted as reversing the progress in fine motor coordination and intelligence that accompanied human evolution. Continue reading

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What does “Nature-Nurture? No” have to do with feminist nature-nurture issues?

A colleague asked me what does my new book, “Nature-Nurture? No” (http://bit.ly/NNN2014),  have to do with feminist nature-nurture issues? What can we do with my analysis?  This 68-minute video is my first rough take on puzzling over that question: http://youtu.be/1gE9_9W8-zI  Comments welcome.

Collaborative production of knowledge: Health, environment, and publics

Collaborative production of knowledge: Health, environment, and publics” is a small, interaction-intensive and collaboration-promoting workshop that begins from the question: How do we make sense of the growing attention to the collaborations with the public (or different selection of the public) in the production of knowledge about health and environmental concerns? All research is collaborative-even solitary scientists have to secure audiences if their findings are to become established as knowledge-so why emphasize collaboration in health and environmental research? The workshop will consider the diverse reasons that might be put forward to explain that emphasis. How are different angles on collaboration related in theory and practice? In what ways can scientists, science educators, science shop organizers, and researchers in history, philosophy, and social studies of science conceptualize, interpret, teach about, and engage in the collaborative generation of knowledge and inquiry? What can we learn reflexively from our own experience in an interaction-intensive workshop around these questions?

A few spaces remain; applications are sought from teachers and researchers (including students) who are interested in promoting the social contextualization of science through interdisciplinary education and outreach activities beyond their current disciplinary and academic boundaries.

Place: Arouca, PORTUGAL
Dates May 21 (Sat, time TBA)-24 (Tues, time TBA), 2011
Lead Facilitator: Peter Taylor, Director of Science in a Changing World graduate program at the University of Massachusetts, building on his experience since 2004 organizing the New England Workshop on Science and Social Change.

Hosted by the BIOSENSE research group at the University of Coimbra, Portugal in collaboration with New England Workshop on Science and Social Change.

For further information or to apply, email the organizer, Rita Serra, ritaserra [at] ces.uc.pt

“Race: A Social Construct or a Scientific Reality?”

Discussion on WUMB Commonwealth Journal  based on new exhibit at the Boston Museum of Science exhibit, Race: Are we so different?

Broadcast on Sunday February 13, 2011.  Speakers: Peter Taylor, Nina Nolan, Chair, RACE Education Team, Boston Museum of Science, and WUMB host, Janis Pryor. Click here to listen to  Podcast.

Afterthoughts on the discussion:

1.  The host did well to launch us into the discussion without precirculation of questions.  The broadcast ended up cutting out only about 5 minutes of the recorded discussion.

2. I was cast as the scientist who would supply the definitive answers about the biological (genetic) basis of race, as if the answer to the rhetorical question in the title given to the broadcast was there’s no scientific reality to race (with the implication that those who say there is are part of the longstanding, historically given problem of racism in the USA).

3. I tried to take the role of someone who was informed by the science, but wanted all listeners to be able to think about the complexities of the issues around race.

4. One of these issues is helping people who think it’s plausible that average differences in, say, IQ test scores, among social/racial groups could be explained by genetic differences see the problems in supporting such an idea with evidence.

5. Another of the issues is the fact that, even if races are defined by (shifting unreliable) social definitions, the experience of living with such definitions can have a significant impact on one’s biology and psychology–that is, it becomes a scientific reality in another sense.

6. I tried to do #4 on the radio and they didn’t edit it out, but visual aids would have helped and even then I need more practice if the take-home point is to come across.  #5 isn’t so hard to convey, but I didn’t get into countering the rejoinders that hypothesize that average differences in susceptibility to illness among social/racial groups could be explained by genetic differences.

7. Re: the passage at the end where I try to speak of the cost of a racially divided society even to those that benefit from it, I need to keep working on how to express this to have impact (and not seem to discount the far greater costs to minorities).

Comments welcome.

Galton and Biobanks: The data collected limits the questions asked

The data that researchers collect shapes the kinds of patterns and hypotheses or predictions they can make.

Galton, a founding father of the analysis of similarity among relatives, recognized that those similarities say nothing on their own to distinguish ‘between the effects of tendencies received at birth, and of those that were imposed by the circumstances of their after lives’ (Galton 1875, 566).  However, especially for the traits that concerned him, namely, ‘superior faculties’ or abilities that were ‘exceptionally high’ (1892 [1978], viii), Galton concluded at an early stage of his inquiries that ‘nature prevails enormously over nurture’ (1875, 574).  To Galton this was evident in the biographical data he had collected on illustrious men and their kinfolk (1869 [1892, 1978]) and in studies of the life histories of similar and dissimilar twins (1875).  His conclusion is not very convincing today.  After all, at one point he begs the question by defining the traits he was measuring as those that ‘exclude the effects of education’ (1892 [1978], viii).  What remains pertinent, however, is that this conclusion meant he saw no need for data on what we would call environmental or social variables.  He could investigate heredity through the patterns of similarity among relatives.  Conversely, because Galton did not measure any environmental variables he was able only to reach conclusions about (supposedly) inborn characters.

John Frank ( 2005), Scientific Director of the Institute of Population and Public Health of the Canadian Institutes for Health Research, has observed an equivalent but more systemic data-determined limitation in this age of genomics.  Frank, an epidemiologist, asks what data needs to be collected over the life course of individuals so that researchers in say, thirty years, have the information needed to identify the key risk factors and interactions that account for variation in disease incidence and differential age of onset in a population, and for changing patterns for diseases over time.  He assumes that ‘diseases and conditions of later life occur in some and not others because of intense interactions between particular genetic constitutions and particular sequence of social and physical environments.’  There is, however, an uneven playing field.  Genetic samples are cheap to collect and store and need to be collected only once in a lifetime.  Environmental exposures vary over time so that ‘new samples are needed whenever exposure changes, are difficult to store, and are ‘getting costlier (as awareness of chemical/physical/ biological complexity increases).’  Some epidemiologists have secured resources to follow small chorts through time and collect a rich array of data on the individuals (e.g., The Southampton Women’s Survey [Inskip et al. 2006]), but the major investments are being made in collecting primarily genetic and disease data for large samples (e.g., the UK Biobank).   Epidemiologists such as Frank have warned that analyses of such data will depend on crude estimates of environmental factors and be subject to large errors, uncertainties, and non-replicated findings about genetic influences.  In the absence of longituidinal data on environmental exposures, biomedicine has almost no option but to emphasize the effects of genetic factors (but see Davey-Smith and Ebrahim 2007).

Extracted from P. Taylor, “Infrastructure and Scaffolding: Interpretation and Change of Research Involving Human Genetic Information,” Science as Culture, 18(4):435-459, 2009

References

Davey-Smith, G. and S. Ebrahim (2007). Mendelian randomization: Genetic variants as instruments for strengthening causal influences in observational studies. Biosocial Surveys. M. Weinstein, J. W. Vaupel and K. W. Wachter. (Washington, DC: National Academies Press), 336-366.

Frank, J. (2005). A Tale of (More Than ?) Two Cohorts – from Canada. 3rd International Conference on Developmental Origins of Health and Disease.

Galton, F. (1865). Hereditary talent and character. Macmillan’s Magazine 12: 157-66, 318-327.

Galton, F. (1875). The history of twins, as a criterion of the relative powers of nature and nurture. Fraser’s Magazine 12: 566-576.

Galton, F. (1978). Hereditary Genius. (New York, NY: St. Martin’s Press).

Inskip, H. M., K. M. Godfrey, S. M. Robinson, C. M. Law, D. J. Barker, C. Cooper and SWS Study Group (2006). Cohort profile: The Southampton Women’s Survey. International Journal of Epidemiology 35(1): 42-48.

 

Social infrastructure (or its absence) makes genetic conditions hardwired

Human quadrupeds: Social infrastructure (or its absence) makes genetic conditions hardwired

‘Family That Walks on All Fours’ is a popular science documentary on the United States Public Broadcasting Network (2006).  Five offspring of a couple in a remote area of Turkey have grown up walking quadrupedally on their hands and feet.  The documentary describes various angles of research on the siblings: MRI brain scans show a reduced cerebellum, the region of the brain controlling balance and movement; genetic analysis identifies a mutation in a gene on chromosome 17 influencing cerebellum development; and evolutionary biologists try to link this gene to the evolution of human bipedalism 3 million years ago.  Indeed, other deleterious effects of the gene are depicted as reversing the progress in fine motor coordination and intelligence that accompanied human evolution.  Scientific disputes arise over these interpretations.  But then it is also observed that no medical treatment or physical therapy has been available since the children failed to shift from crawling to walking upright.  Following the introduction of a simple walking frame, then exercising between parallel bars, the quadrupedal adults learn to walk upright.

The quadrupedal condition may have been genetic in origin, but it was the social infrastructure—or lack thereof—made it hardwired.  Adjustments to that infrastructure then softened that wiring.  Could the corollary also hold: The application of genetic knowledge to reshape human life will always involve reconstruction of the social infrastructure?  Under what conditions—or crises—will that reconstruction become possible?

Another excerpt from P. Taylor, “Infrastructure and Scaffolding: Interpretation and Change of Research Involving Human Genetic Information,” Science as Culture, 18(4):435-459, 2009

The relationship between interpretation in/of science and change

‘Gessen’s genetic counselors recommended an oophorectomy.  But Gessen balked…

Our culture doesn’t yet have the infrastructure to handle the consequences of the recent revolution in genetic testing.  But we’ll need it…’

Review of Gessen (2008), Blood Matters, in International Herald Tribune

10-11 May 2008.

*

In 1845 the young Karl Marx proclaimed that the ‘philosophers have only interpreted the world, in various ways; the point, however, is to change it.’  But what mode of interpretation should guide people in effecting change?  That’s no simple matter. Marx himself spent the following forty years of his life elaborating his interpretation of historical and ongoing social transformations.

In 1865 Francis Galton, sought to promote social progress by interpreting patterns in data drawn from human relatives.  As Galton proclaimed early in his forty years of research:

If a twentieth part of the cost and pains were spent in measures for the improvement of the human race that are spent in the improvement of the breed of horses and cattle, what a galaxy of genius might we not create! …Men and women of the present day are, to those we might hope to bring into existence, what the pariah dogs of the streets of an Eastern town are to our own highly-bred varieties (Galton 1865, 165-6).

Fast forward to 2008.  Genomics entrepeneur, Craig Venter, and science communicator, Richard Dawkins, converse about change that flows, almost without interpretation, from information about organisms’ genes:

Venter: [W]e isolated the chromosome from one bacterial species and transplanted it into another one. The chromosome in the species that we transplanted into was destroyed, and all the characteristics of one species went away and got transformed into what was dictated by the new chromosome… This was a precursor to being able to now design life… And we have major problems we’re trying to overcome by looking for solutions, changes in modern society.

Dawkins: It’s more than just saying that you can pick up a chromosome and put it in somewhere else. It is pure information. You could put it into a printed book. You could send it over the Internet. You could store it on a magnetic disk for 1,000 years, and then in a thousand years time, with the technology that they’ll have then, it will be possible to reconstruct whatever living organism was here now. So, this is something which was utterly undreamed of before the molecular information revolution… This is a major revolution. I suppose it’s probably ‘the’ major revolution in the whole history of our understanding of ourselves (Venter and Dawkins 2008).

*

This essay addresses the relationship of interpretation to change, at two levels.  One level concerns the revolutionary claims of molecular biology and biotechnology about using genetic information, read literally or with a minimum of interpretation (construing the term broadly), to reshape human life.  The other level, less grand in ambition, concerns the relationship in social studies of science and technology (STS) between interpreting projects in the life sciences and influencing their direction.  Claims like those of Venter and Dawkins are fantasies, they involve worlds envisaged and mentally inhabited so as to escape the practical difficulties of action (Robinson 1984).  In the material world many diverse materials, tools, and other people have to be engaged to realize any enduring result.  Social infrastructure has to be built if human life is to be reshaped.  This perspective matches interpretations in STS that emphasize the heterogeneous engineering or construction involved in establishing knowledge and making technologies reliable (Latour 1987; Law 1987; Clarke and Fujimura 1992, 4-5; Taylor 2005, 93ff).  However, two shortcomings in such interpretations concern me:  More self-conscious attention is needed to how such interpretations are intended to influence change in science or technology and in society.  In particular, more development is is needed in the conceptualisation of the structure of the social context of scientific and technological developments and of human agency in the ongoing restructuring of that context….

=Opening excerpt from “Infrastructure and Scaffolding: Interpretation and Change of Research Involving Human Genetic Information,” Science as Culture, 18(4):435-459, 2009

References

Clarke, A. and J. Fujimura (1992). What tools? Which jobs? Why right? The Right Tools for the Job:  At Work in Twentieth-century Life Sciences. A. Clarke and J. Fujimura. (Princeton: Princeton University Press), 3-44

Galton, F. (1865). Hereditary talent and character. Macmillan’s Magazine 12: 157-66, 318-327

Latour, B. (1987). Science in Action:  How to Follow Scientists and Engineers through Society. (Milton Keynes: Open University Press).

Law, J. (1987). Technology and heterogeneous engineering: The case of Portugese expansion. The Social Construction of Technological Systems: New Directions in the Sociology and History of Technology. W. E. Bijker, T. P. Hughes and T. J. Pinch. (Cambridge, MA: MIT Press), 111-134

Robinson, S. (1984). The art of the possible. Radical Science Journal 15: 122-148

Taylor, P. J. (2005). Unruly Complexity: Ecology, Interpretation, Engagement. (Chicago: University of Chicago Press).

Venter, C. and R. Dawkins (2008). Life: A Gene-Centric View—A Conversation in Munich. Edge 235