Tuesday, December 18, 2012


rs63750847 is a rare SNP, but a very good one. According to the Nature paper PMID 22801501 published in August, this variant in the Amyloid Precursor Protein (APP) gene reduces the risk of Alzheimer’s five-fold. It’s present in less than 1% of Icelandic and Scandinavian populations, and even rarer in North Americans. So while most of us aren’t fortunate enough to carry the rare protective allele, seeing such a strong protective effect may suggest new avenues for medicines and treatments.

The finding was published by deCODE, which has made numerous scientific contributions to the field, especially this year. CEO Kari Stefansson has previously expressed frustration that 23andMe’s DTC testing service was given the 2008 Invention of the Year by TIME Magazine, despite deCODE’s extensive research contributions and earlier - by a day or two - DTC launch date.
Perhaps there is some karma here, as deCODE’s latest discovery has won them high praise and was a factor in their $415M acquisition by Amgen. Good research takes time - it took almost 20 years to make the subtle but fundamental shift from the scientific understanding that this SNP was not associated with excessive amyloid deposition [PMID 8170579] to deCODE’s recent conclusion that it actually protects against it. Amgen has stated that it won’t be offering deCODE’s DTC genomic testing, though, so even if 23andMe wasn’t the first DTC genomics testing company, they are the last of the pioneers to still be standing.

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