Buffalo gave us spicy wings and the ‘book of life.’ Here’s why that’s undermining personalized medicine

The geneticists had high hopes of identifying the mutation that had caused the little boy’s abnormalities: a flattened face, cognitive delays, cleft palate, stubby thumbs, and a host of other skeletal malformations. They were pretty sure he had a rare disease called Baratela Scott syndrome, which had been identified only in 2012. But because its symptoms overlap with those of other hereditary disorders, they couldn’t be sure.

At the University of Washington, geneticists looked for a gene mutation that had been found in other children with the disorder. Following the usual procedure, they checked the spelling of the boy’s DNA sequences against the closest thing genomics has to a dictionary — the “reference” human genome, the grand product of the decade-long, $2.7 billion Human Genome Project.

To the scientists’ puzzlement, however, the boy’s sequence showed no sign of the mutation in the gene known to cause Baratela Scott, called XYLT1. Nor did the DNA of the next boy with the disorder, or the next. As they tried to compare the boys’ DNA sequences to the reference genome, it was like trying to check a spelling in a Webster’s from which a prankster had