The process of trying to establish the cause of a rare disease can drag on for five years. Genetic testing can cut this '“diagnostic odyssey” down to weeks
showed Dr Nizar’s sons a pain chart, they asked her what the smiley face at one end of the scale meant. The boys do not know, Dr Nizar says, what it is like to live without pain. Not all the diseases caused by calamitously failed single genes are quite that awful. But unlike the more generalised genomic influences on health—those to which everyone is heir, but few know about—people with serious congenital diseases have no escape or respite; their symptoms are inescapable.
Sometimes the correct care has dramatic results. Jessica was four years old when sequencing showed that the disease affecting her movement and development stemmed from a misprint in a gene called. This meant her cells did not make enough of a protein that transports sugar into the brain, thus leaving it chronically underpowered. Giving Jessica a carefully tailored low-carbohydrate diet activated an alternative way of getting calories to herbrain.
Similarly, studies of a Chinese family with a rare form of erythromelalgia, which causes burning pain and redness in the feet, are driving the development of new painkillers. Studies of the faultygene found in families with a genetic disorder that gives them poor coronary health inspired a whole class of new anti-cholesterol drugs that are more effective than statins.
Many hope that various new technologies could drastically reduce the costs of bespoke treatments for at least some congenital diseases. Most drugs today work by targeting a protein—either one of the body’s proteins that is misbehaving, or a protein in a pathogen that is achieving its goals all too well. The drug has to be tailored to the shape and activity of the protein it targets, while not messing up the workings of other inoffensive proteins that are doing vital work. That isn’t easy.
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