The San Jose Mercury News recently ran a story by Lisa Krieger about a father (Hugh Rienhoff) who found a single-amino-acid mutation that he believes causes his daughter’s growth difficulties.
Born with small, weak muscles, long feet and curled fingers, Beatrice confounded all the experts.
No one else in her family had such a syndrome. In fact, apparently no one else in the world did either.
Rienhoff — a biotech consultant trained in math, medicine and genetics at Harvard, Johns Hopkins and the Fred Hutchinson Cancer Research Center in Seattle — launched a search.
He combed the publicly available medical literature, researching diseases, while jotting down each new clue or theory. Because her ailment is so rare, he knew no big labs or advocacy groups would be interested.
He did some of his own lab work in his San Carlos home, borrowing tools or buying them used online.
A few commercial labs, like the San Diego-based biotech Illumina, offered him help for free. And a wide array of pediatricians, geneticists and neurologists volunteered their opinions.
Over time, he zeroed in on a stretch of genes that control a growth hormone responsible for muscle cell size and number. And he knew he could further target his search — saving time and money by not sequencing Bea’s entire genome, but only the exomes, which are the genes that code for proteins.
This is not a simple upbeat story. The father is a genetic researcher and doctor. I agree, he has made considerable progress in understanding the cause of his daughter’s problem. Not addressed are two questions: 1. Why is he sure he has the right mutation? Perhaps his daughter has other mutations. I’m sure the father understands this, the journalist may not. 2. What about environmental causes? As Aaron Blaisdell’s story shows — Aaron has/had a single-gene genetic disease that vanished when he changed his diet — single-gene diseases may respond to environmental changes. Early work with bacteria emphasized this. If Rienhoff had spent equal effort in trying to find environmental changes that help, he might be further along in discovering them. An obvious place to start would be testing different diets. There is no sign he has done that. His knowledge of genetics, plus the brainwashing that doctors undergo (they are told genes are incredibly important), may have led him to waste a lot of time. Someone with less understanding of genetics may realize better than Rienhoff that knowing what genes have changed may be very little help in finding helpful environmental changes.
Thanks to Allan Jackson.