Tracking down genes involved in Alzheimer’s disease

Alzheimer’s disease (AD) remains the most common form of dementia, particularly the late-onset version which typically develops in patients aged over 65. Although there is believed to be a strong genetic basis to the disease, the only gene previously identified as a susceptibility factor in all version of the disease was APOE, coding for Apolipoprotein E. In addition, genes for Amyloid precursor protein (APP), Presenilin 1 (PSEN1) and Presenilin 2 (PSEN2) have been noted as factors in the less common early-onset form of AD, which has a strong pattern of familial inheritance. Other attempts to find genes influencing the more common late onset form of AD have been ‘under-powered’, i.e. have involved insufficient individuals (≤1,100) to reveal any further statistically-significant correlations.

In October 2009, however, two independent studies published “back-to-back” in the journal Nature Genetics identified a number of other genes in which Single Nucleotide Polymorphisms (SNPs) seem to be associated with development of late-onset AD. Continue reading

How widespread is scientific misconduct?

From time to time examples of scientific fraud come to light and raise questions about the integrity of scientific endeavour. The most well-known example of recent years must surely be South Korean stem cell biologist Hwang Woo-Suk, whose ground-breaking discoveries in the field of therapeutic cloning were exposed as bogus (In addition to his science reputation being in tatters, Hwang was convicted in October 2009 of embezzlement and violation of bioethical laws, although he escaped a custodial sentence).

In physics, the multiple re-use of the same graphs as data for entirely different experiments led to the downfall of a leading young nanoscientist (this was the subject of a 2004 episode of the BBC’s Horizon series The dark secret of Hendrik Schön). Are Hwang and Schön rare examples bringing unwarranted criticism to a body of otherwise exemplary scientists, or are their crimes indicative of much wider malpractice within the scientific community?


University of Edinburgh researcher Daniele Fanelli has shed some light on the the extend of scientific fraud in an article How many scientists fabricate and falsify research? A systematic review and meta-analysis of survey data. Published in the open access journal PLoS ONE in May 2009, the research brought together data from a number of earlier smaller studies on scientific misconduct to generate “the first meta-analysis of these surveys” (p1).

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  • Awards

  • November 2009
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