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Reductionist barriers to seeing the whole – why can’t the King’s Men put Humpty together again?
Published in Johanna Lynch, A Whole Person Approach to Wellbeing, 2020
Iona Heath, a GP, points out that disease and unease that do not fit the patterns that reductionist science recognises are often ‘invalidated … belittled and ignored’ (1997, 17). Louise Stone names this process ‘disease prestige’ (2018). When a complex phenomenon is constrained to linear rules of observation, our understanding will be limited. Sue McGregor (2004, 7), a transdisciplinary researcher, reminds us that: ‘Simplifying reality to simplify our work is irresponsible’. Within biomedicine this reductionism can lead to wider social issues being ‘located within an individual’ (mhc). It can influence priorities so that genetic mapping of an individual takes precedence over understanding the health impact of poverty or overcrowding. This reductionist approach to parts of the whole leads to disrespect and language barriers between the King’s Men and has an impact on approaches to Humpty’s health – those who care for Humpty cannot see him – or even worse, they may claim spuriously to know precisely what they are seeing when all they are seeing is a fragment.
The Genetic Body
Published in Roger Cooter, John Pickstone, Medicine in the Twentieth Century, 2020
Human genetics in the 1980s and 1990s has been dominated by genetic mapping and sequencing in the form of the international Human Genome Project. The Project has been hailed as the quest for the ‘holy grail of human genetics’ by its supporters, and as ‘mediocre science, terrible science policy’ by its critics. It is, to date, the largest collaborative research effort to have taken place in the life-sciences and has frequently been referred to as ‘big science’ for biology.
Ad Hoc Integrated Library Functions Currently Used by Medical Libraries
Published in Helis Miido, The Integrated Medical Library, 2020
In 1987, the Welch Medical Library created an academic research and development unit, the Laboratory for Applied Research in Academic Information, to conduct research in the transfer and management of the published knowledge base. The following projects involve online databases: the online version of the Mendelian Inheritance in Man by Victor A. McKusick, available to the scientific community through Telenet, Internet, and the international packet switching network; the 3rd edition of the Principles of Ambulatory Medicine which is being tested to create an integrated environment for hierarchical text retrieval and multi-author, multi-editor manuscript preparation; and the Genome Data Base, to provide genetic mapping and disease data for medical applications. Since the genetics databases are currently running on the UNIX operating system, access from the Welch Medical Library will be through gateways.
Dietary S. maltophilia induces supersized lipid droplets by enhancing lipogenesis and ER-LD contacts in C. elegans
Published in Gut Microbes, 2022
Kang Xie, Yangli Liu, Xixia Li, Hong Zhang, Shuyan Zhang, Ho Yi Mak, Pingsheng Liu
A forward genetic screen was conducted to identify C. elegans host factors that mediate the S. maltophilia effect on LDs. We used DHS-3::GFP or MDT-28::mCherry as LD markers (Fig. 4a and 4b) and screened 7,000 haploid genomes after chemical mutagenesis with ethyl-methane sulfonate (EMS), and isolated 7 mutant strains (Figure 4a). Genetic mapping based on single nucleotide polymorphisms (SNPs) eventually led to the molecular cloning of two genes: acs-13 and dpy-9 (Figure 4c-Figure 4h). The acs-13 gene encodes an ortholog of human ACSL1, 5, 6 (acyl-CoA synthetase long-chain family member 1, 5, 6). The dpy-9 gene encodes a cuticular collagen family member with similarity to human collagen alpha 5, type IV. Using complementation tests and RNAi, we confirmed that the loss of acs-13 and dpy-9 function blocked the ability of S. maltophilia to induce LD expansion in C. elegans (Figure 4a-4h).
X-chromosomal STRs for genetic composition analysis of Guizhou Dong group and its phylogenetic relationships with other reference populations
Published in Annals of Human Biology, 2021
Meiqing Yang, Xiaoye Jin, Zheng Ren, Qiyan Wang, Hongling Zhang, Han Zhang, Jing Chen, Jingyan Ji, Yubo Liu, Jiang Huang
STRs are one kind of genetic variation that display different numbers of repeat sequences. They possess some advantages like wide distributions in human genomes and high genetic diversities, and are universally employed for genetic mapping, population genetic research, forensic application, and so on (Hadžić Metjahić et al. 2019; Liu et al. 2019). Likewise, STRs on the X-chromosome (X-STR) possess the characteristics mentioned above. More importantly, X-STRs also show a unique inherited pattern. There are virtually no recombination events between X and Y chromosomes for male individuals and the X-chromosome is only transmitted to female offspring; conversely, the X-chromosome shows similar genetic characteristics to autosomes for females, and it has two copies which can transmit to male or female descendants (Gomes et al. 2020). The specific genetic mode of the X-chromosome means that genetic markers on the X-chromosome can play crucial roles in forensic research and human evolution. For example, X-STRs can provide valuable information in some tricky paternity cases like half-sister sibship or grandmother-granddaughter kinship (Perera et al. 2021). Allelic frequencies of X-STRs in the population are prerequisites for forensic applications. Accordingly, genetic data of X-STRs in different populations need to be investigated.
What’s new in chronic pain pathophysiology
Published in Canadian Journal of Pain, 2020
To summarize, there are strong implications regarding a patient’s pain experience and analgesic outcomes as directed by his or her genetic code. Enzymatic activity can significantly alter sensation, addictive behaviors, and medication metabolism, complicating a clinical picture. SNPs and other mutations in ion channel genes may lead to channelopathies that may fundamentally alter how a patient experiences and responds to a nociceptive stimulus. Moreover, some patients may suffer from painful conditions entirely caused by a genetic mutation resulting in a defective channel protein. Understanding of opioid metabolism variability has influenced prescription practices, most notably codeine use in pediatric populations. There is little use of genetic testing in practice today; looking to the future, genetic mapping and screening may help provide direction for pharmaceutical management and abuse risk. Gene therapies may represent a means to affect and interact with these complex systems to prevent or treat acute and chronic pain.