Safeguarding donors’ personal rights and biobank autonomy in biobank networks: the CRIP privacy regime

Governance, underlying general ICT (Information and Communication Technology) architecture, and workflow of the Central Research Infrastructure for molecular Pathology (CRIP) are discussed as a model enabling biobank networks to form operational “meta biobanks” whilst respecting the donors’ privacy, biobank autonomy and confidentiality, and the researchers’ needs for appropriate biospecimens and information, as well as confidentiality. Tailored to these needs, CRIP efficiently accelerates and facilitates research with human biospecimens and data.     

“Who’s the face?”: communication and white identity in a Texas business community

This article examines the relationship between whiteness and communication through analysing how white business community members acknowledge their own, usually invisible, white identity. Discourse analysis of interactions in a Texas organization shows how white members construct white identity as intersecting with Texan, masculine, age and professional identity categories. Members mark the overt construction of white identity as a dispreferred action through using disclaimers, formulations, pauses, humour and non-racial terms. Analysis of minority business member talk illustrates how minorities orient to white members’ talk as exclusive towards minorities because they do not overtly and directly discuss race and because they orient to regional identity in a way that ignores racial diversity among Texans. Thus while white members attempt to acknowledge their raced position in the Texas business community, their communicative actions repeatedly index white identities and reproduce the hegemonic position of white, male, Texan professional identities in this community.     

Protein quality control: the who’s who, the where’s and therapeutic escapes

In cells the quality of newly synthesized proteins is monitored in regard to proper folding and correct assembly in the early secretory pathway, the cytosol and the nucleoplasm. Proteins recognized as non-native in the ER will be removed and degraded by a process termed ERAD. ERAD of aberrant proteins is accompanied by various changes of cellular organelles and results in protein folding diseases. This review focuses on how the immunocytochemical labeling and electron microscopic analyses have helped to disclose the in situ subcellular distribution pattern of some of the key machinery proteins of the cellular protein quality control, the organelle changes due to the presence of misfolded proteins, and the efficiency of synthetic chaperones to rescue disease-causing trafficking defects of aberrant proteins.     

Children’s novel NN compounding in Swedish diary data: function and form

This study explores formal aspects and functions of 420 novel noun-noun (NN) compounds in diary data from three Swedish children (1;9–6;11). With regard to form, the data show that the children’s compounds respect target head order, allow for a small amount of internal inflection, and, in more than half of the cases where a liaison form is required, are properly formed. Most of the compounds concatenate two nouns (without the presence of liaison forms), as is the general case for Swedish NN compounds. With regard to function, the data permit us to distinguish three main functions of the coinages: I. Novel compound instead of established term, II. Novel compound for novel category, and III. Novel compound for specific entity. Type I involves attempts to target conventional compounds by relying either on perceptual or functional features or on recalled semantic, phonological, and/or morphological cues. Type II is innovative compounding par excellence: detailed discriminations and fantasy concepts are named. Type III divides into anaphoric and deictic uses as well as what we call appropriation, i.e. naming a specific entity. Types II and III are functions displayed by novel compounds in general. In conclusion, the three children seem to master the central facets of NN compounds, formally and functionally. Furthermore, compound production can constitute a simple and efficient means for young children to maximize and build more structure into their lexicon.     

Tracing the shifting sands of ‘medical genetics’: what’s in a name?

This paper focuses on the structural development of institution-based interest in genetics in Anglo-North American medicine after 1930 concomitantly with an analysis of the changes through which ideas about heredity and the hereditary transmission of diseases in families have passed. It maintains that the unfolding relationship between medicine and genetics can best be understood against the background of the shift in emphasis in conceptualisations of recurring patterns of disease in families from ‘biological relatedness’ to ‘related to chromosomes and genes’. The paper begins with brief considerations of the historical confluences of, first, heredity and medicine and, second, genetics and medicine which, in a third section, leads to a discussion about a uniquely ‘genetics-based approach’ to medicine in the second half of the twentieth century.     

Becoming data: biometric IDs and the individual in ‘Digital India’

Aadhaar (literally ‘foundation’) is the largest national biometric identification drive the world has witnessed. An Aadhaar is a twelve-digit ID number linked to its holder's iris scans, fingerprints, facial photograph, and demographic information in a centralized database. In but a decade, India has expeditiously enrolled over 90 per cent of its billion-strong population into a Central Identities Data Repository. This essay is an ethnographic consideration of the processes by which Aadhaar enrollees become data, focusing on the sociopolitical valence of biometric data. It argues that the datafication of the body via Aadhaar occasions re-examinations of – and contestations over – the idea of the individual in postcolonial India, a country often deemed sociocentric in popular and scholarly discourse alike. Further, it suggests that biometric socialization facilitates belonging in a ‘Digital India’, often rendered as a data cosmopolis in emergent technocratic imaginations.     

Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”

Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations.     

Scherrer and Jost’s symposium: the gene concept in 2008

Reconsideration of the term “gene” should take into account (a) the potential clash between hierarchical levels of information discussed in the 1970s by Gregory Bateson, (b) the contrast between conventional and genome phenotypes discussed in the 1980s by Richard Grantham, and (c) the emergence in the 1990s of a new science—Evolutionary Bioinformatics—that views genomes as channels conveying multiple forms of information through the generations. From this perspective, there is conceptual continuity between the functional “gene” of Mendel and today’s GenBank sequences. If the function attributed to a gene can change specifically as the result of a DNA mutation, then the mutated part of DNA can be considered as part of the gene. Conversely, even if appearing to locate within a gene, a mutation that does not change the specific function is not part of the gene, although it may change some other function to which the DNA sequence contributes. This strict definition is impractical, but serves as a guide to more workable, context-dependent, definitions. The gene is either (1) The DNA sequence that is transcribed, (2) The latter plus the immediate 5′ and 3′ sequences that, when mutated, specifically affect the function, (3) The latter two, plus any remote sequences that, when mutated, specifically affect the function. Attempts, such as that of Scherrer and Jost, to redefine Mendel’s “gene,” may be too narrowly focused on regulation to the exclusion of other important themes.     

Priorities in statistics, the sensitive feet of elephants, and don’t transform data

In spite of the widespread use of statistics in plant ecology, some misunderstandings are widespread. Lájer’s warning against non-random sampling in the field is well taken, but non-randomization is probably more common than we realize in experimental work too, and a frequent cause of inexplicable “significant” results. However, in the placement of quadrats/samples, restricted randomization is always preferable to plain random. The main purpose of randomization, as R.A. Fisher made clear, is to obtain a valid estimate of the error. Random placement does not, as Fisher realized, ensure independence of samples because of spatial autocorrelation, which is present in all ecological work. If we forget this, we can end up concluding that elephants carefully select moss cushions to tread on. Although a normal distribution is often formally required, tests such as the Analysis of Variance are fairly robust against departures. Obsession with normality leads to the use of inappropriate transformations, for example a log transformation when the author had no intention of a multiplicative model. Even worse is the use of a log (x + 1) transformation, which gives answers in neither additive nor multiplicative terms, and in a way unrelated to the means presented. There are several solutions to this, including randomization tests. After all this, we should not take the arbitrary value of 0.05 too seriously. Many statisticians do not.     

If It’s Not One Thing,It’s Another: An Inverse Relationship of Malignancy and Atherosclerotic Disease

Atherosclerosis and malignancy are pervasive pathological conditions that account for the bulk of morbidity and mortality in developed countries. Our current understanding of the patholobiology of these fundamental disorders suggests that inflammatory processes may differentially affect them; thus, atherosclerosis can be largely driven by inflammation, where as cancer often flourishes as inflammatory responses are modulated. A corollary of this hypothesis is that cancer (or its treatment may significantly attenuate atherosclerotic disease by diminishing host inflammatory response, suggesting potential therapeutic approaches. To evaluate the relationship between cancer and cardiovascular atherosclerotic disease, we assessed 1,024 autopsy reports from Brigham and Women’s Hospital and performed correlative analyses on atherosclerotic severity and cancer prevalence. In gender- and age-matched populations, there is a statistically significant inverse correlation between history of malignancy and autopsy-proven atherosclerotic disease. In a second analysis, we evaluated 147,779 patients through analysis of the Harvard Catalyst SHRINE database and demonstrated a reduced non-coronary atherosclerotic disease rate: control (27.40%), leukemia/lymphoma (12.57%), lung (17.63%), colorectal (18.17%), breast (9.79%), uterus/cervix (11.47%), and prostate (18.40%). We herein report that, based on two separate medical records analysis, an inverse correlation between cancer and atherosclerosis. Furthermore, this correlation is not uniformly associated with anti-neoplastic treatment, suggesting that the inverse relationship may be in part attributable to an individual’s intrinsic inflammatory propensity, and/or to inflammation-modulatory properties of neoplasms.     

Copper in the brain and Alzheimer’s disease

Alzheimer’s disease (AD) is the most common form of neurodegenerative disease. The brain is particularly vulnerable to oxidative damage induced by unregulated redox-active metals such as copper and iron, and the brains of AD patients display evidence of metal dyshomeostasis and increased oxidative stress. The colocalisation of copper and amyloid β (Aβ) in the glutamatergic synapse during NMDA-receptor-mediated neurotransmission provides a microenvironment favouring the abnormal interaction of redox-potent Aβ with copper under conditions of copper dysregulation thought to prevail in the AD brain, resulting in the formation of neurotoxic soluble Aβ oligomers. Interactions between Aβ oligomers and copper can further promote the aggregation of Aβ, which is the core component of extracellular amyloid plaques, a central pathological hallmark of AD. Copper dysregulation is also implicated in the hyperphosphorylation and aggregation of tau, the main component of neurofibrillary tangles, which is also a defining pathological hallmark of AD. Therefore, tight regulation of neuronal copper homeostasis is essential to the integrity of normal brain functions. Therapeutic strategies targeting interactions between Aβ, tau and metals to restore copper and metal homeostasis are discussed.