This article analyzes a number of recently published autobiographies by leading participants in the Human Genome Project (HGP), in order to determine to what extent they may further our understanding of the history, scientific significance and societal impact of this major research endeavor. Notably, I will focus on three publications that fall under this heading, namely The common thread by John Sulston (2002/2003), The language of God (2006) by Francis Collins and A life decoded by Craig Venter (2007).1 What may (...) we learn from these autobiographical sources about the dynamics of scientific change? What is their added value in understanding science in general and the HGP in particular? These questions will be elaborated in three directions: on the level of knowledge (epistemology), power (politics) and the Self (ethics). On the epistemological level, genomics is often presented as a paradigm shift in the life sciences, a tremendous up-scaling of research, an “informatization” of life. Autobiographies may reveal how this shift – usually discussed in more general terms from a philosophy of science or science studies perspective – manifests itself on an individual scale, on a micro- epistemological level. On the political level, autobiographies may inform us about the micro-politics of scientific change. Finally, on the level of Self, autobiographies may allow us to analyze how researchers, through practices of Self, are actively engaged in constituting themselves as responsible subjects in the face of unpredictable dynamics and unforeseen dilemmas. (shrink)

Explores the development of the ideas of evolutionary biology, particularly as affected by the increasing understanding of genetics and of the chemical basis of inheritance.

Textbook descriptions of the foundations of Genetics give the impression that besides Mendel’s no other research on heredity took place during the nineteenth century. However, the publication of the Origin of Species in 1859, and the criticism that it received, placed the study of heredity at the centre of biological thought. Consequently, Herbert Spencer, Charles Darwin himself, Francis Galton, William Keith Brooks, Carl von Nägeli, August Weismann, and Hugo de Vries attempted to develop theories of heredity under an evolutionary perspective, (...) and they were all influenced by each other in various ways. Nonetheless, only Nägeli became aware of Mendel’s experimental work; it has also been questioned whether Mendel even had the intention to develop a theory of heredity. In this article, a short presentation of these theories is made, based on the original writings. The major aim of this article is to suggest that Mendel was definitely not the only one studying heredity before 1900, if he even did this, as may be inferred by textbooks. Although his work had a major impact after 1900, it had no impact during the latter half of the nineteenth century when an active community of students of heredity emerged. Thus, textbooks should not only present the work of Mendel, but also provide a wider view of the actual history and a depiction of science as a social process. (shrink)

Definitions of the term gene typically superimpose molecular genetics onto Mendelism. What emerges are persistent attempts to regard the gene as a unit of structure and/or function, language that creates multiple meanings for the term and fails to acknowledge the diversity of gene architecture. I argue that coherence at the molecular level requires abandonment of the classical unit concept and recognition that a gene is constructed from an assemblage of domains. Hence, a domain set (1) conforms more closely to empirical (...) evidence for genetic organization of DNA regions capable of transcription and (2) has ontological properties lacking in the traditional unit definition. (shrink)

It is predicted that the rapid acquisition of new genetic knowledge and related applications during the next decade will have significant implications for virtually all members of society. Currently, most people get exposed to information about genes and genetics only through stories publicized in the media. We sought to understand how individuals in the general population used and understood the concepts of ???genetics??? and ???genes.??? During in-depth one-on-one telephone interviews with adults in the United States, we asked questions exploring their (...) basic understanding of these terms, as well as their belief as to the location of genes in the human body. A wide range of responses was received. Despite conversational familiarity with genetic terminology, many noted frustration or were hesitant when trying to answer these questions. In addition, some responses reflected a lack of understanding about basic genetic science that may have significant implications for broader public education measures in genetic literacy, genetic counseling, public health practices, and even routine health care. (shrink)

A historical and critical analysis of the concept of the gene that attempts to provide new perspectives and metaphors for the transformation of biology and its philosophy.

My conclusion is that Mendel deliberately, though without any real falsification, tried to suggest to his audience and readers an unlikely and substantially wrong reconstruction of the first and most important phase of his research. In my book I offer many reasons for this strange and surprising behavior,53 but the main argument rests on the fact of linkage. Mendelian genetics cannot account for linkage because it was based on the idea of applying probability theory to the problem of species evolution. (...) Central to the theory is the law of probability according to which the chance occurrence of a combination of independent events is the product of their separate probabilities. This is the common basis of Mendel's first and second laws, but this is why Mendel's second law on independent assortment is enunciated in too general a way. From Morgan's work we now know that characters may not always be independent if their genes are located very close one to the other on the same chromosome. And this was also the basis of Mendel's personal drama: he surely observed the effects of linkage, but he had no theoretical tools with which to explain it. So he presented his results in a logical structure consistent with the central idea of his theory. Had he described the real course of his experiments he would have had to admit that his law worked for only a few of the hundreds of Pisum characters — and it would thus have been considered more of an exception than a rule. This is why he insisted on the necessity of testing the law on other plants, and this is why in his second letter to Carl Nägeli he admits that the publication of his data was untimely and dangerous.54.We can argue that already in 1866 Mendel was less confident that his so-called second law had the same general validity as the first — and that later he lost his confidence altogether. Contemporary testimony indicates that in the end he became as skeptical as all his contemporaries as to the scientific relevance of his theory.55 But he was wrong. His research is in no way the fruit of methodological mistakes or forgery, and it remains a landmark in the history of science. He was only the victim of a strange destiny in which the use of probability theory was responsible, at the same time, for the strength and for the weakness of his theory. We must still consider him the father and founder of genetics. (shrink)

According to the traditional account Mendel's paper on pea hybrids reported a study of inheritance and its laws. Hence, Mendel came to be known as The Father of Genetics. This paper demonstrates that, in fact, Mendel's objective in his research was finding the empirical laws which describe the formation of hybrids and the development of their offspring over several generations. Having found these laws (and not the laws of inheritance that he is generally credited with) he proposed a theoretical scheme (...) involving the formation of germinal and pollen cells in hybrids and their combination in fertilization competent to explain why his laws took the form that they did. Mendel's research shows a pattern of development closely paralleling the stages of empirical investigation beginning at the level of qualitative description in common language rising through four levels of increasing abstraction and culminating in a fifth level, his simple mechanical theory. This mechanism met all the tests that a theory of this type must pass. In that respect Mendel was highly successful and this success might be the reason why he did not push his theory to a higher level, a sixth level involving the use of particulate determiners; despite this fact, Mendel was credited with having taken exactly that step. (shrink)

Mendel's work in hybridization is ipso facto a study in inheritance. He is explicit in his interest to formulate universal generalizations, and at least in the case of the independent segregation of traits, he formulated his conclusions in the form of a law. Mendel did not discern, however, the inheritance of traits from that of the potential for traits. Choosing to study discrete non-overlapping traits, this did not hamper his efforts.