Oh my genome!

There was a time when trainees would be advised to ‘just publish a case report’ to further their career. In 2021, to get published in the New England Journal of Medicine, you need 30 coauthors and to solve the case within 16.5 hours of the blood test being taken. Following ultrarapid whole-genome sequencing, a diagnosis of thiamine metabolism dysfunction syndrome 2 was made in a 5 week old infant. This is a potentially treatable epileptic encephalopathy. At 7 months of age, the paper describes him as now ‘thriving.’ In contrast, his older sibling died at 11 months of age, 10 years earlier of an undiagnosed Leigh-like illness. The boundaries of what is possible have yet again been stretched by technology.

N Engl J Med. 2021; 384(22): 2159–2161.

M art I

Scientific discovery does not always have to be this objectively attractive! Figure 1 shows a single subject MRI connectome map at unprecedented high resolution. A multishell diffusion scheme was used, with the slice thickness of 0.76 mm. The figures were created by whole-brain tracking of 500 000 tracks and cut at midbrain and pons level in a healthy subject.

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Figure 1

In vivo human whole-brain connectome diffusion MRI at 760 µm isotropic resolution (adapted from Wang et al. Scientific Data. 2021;8(1):1–2; created using DSI Studio).

Gender gap

Some important research reconfirms the biases and scale of discrepancy that we see. In a study that mimicked an employment process for postdoctoral research assistants, 117 CVs were randomised and 56 were analysed (dropout due to consent and lost to follow-up). CVs from men were more likely to receive higher ratings and the candidates were more likely to be seen as having ‘leadership potential’. Both male and female reviewers favoured men; women scoring the CVs were more likely to score men highly overall and for ‘scientific contribution’.

So A Fo Ben asks (with tongue-probing buccinator integrity): can we demonstrate that men reliably show the wisdom and strength of character to deserve such elevation? A recent YouGov poll of Americans asked: if unarmed, which animals would you be confident in fighting (figure 2)? The biggest sex biases were for eagle, medium-sized dog and goose (15%, 21% and 20% points, respectively)—clear evidence of male overconfidence. However, A Fo Ben’s attention is drawn to both ends of the scale—32% of women would not feel confident overpowering a rat—and there is a near equal sex match for the foolhardy who feel pretty sure they could dominate a grizzly bear, lion or gorilla.

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Figure 2

YouGov Poll—What animal could you beat in a fight? Compared with women, men feel most able to take on medium-sized dogs and geese.

J Clin Epidemiol. 2021: S0895-4356(21)00178-5.

Lishman (1931–2021)

Alwyn Lishman, the UK’s first professor of neuropsychiatry, laid out his views on neurological disease, psychiatric aetiology and the role of biopsychosocial factors in the seminal Organic Psychiatry textbook, 1978. A career of inspiring by mentorship and clinical research work was exemplified by his study of neuropsychiatric impairment related to frontal lobe damage in war veterans. His obituary states ‘as a clinician, Lishman was peerless’, and through careful observation and skilful communication, he inspired a generation of neuropsychiatrists.

Lancet. 2021; 397(10286): 1704.