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Genetic disease treatment drastically changes hair color

It’s called serendipity: While searching for a cure for a rare disease, a research team may have figured out how to genetically alter hair color. A discovery which is perhaps not of the first importance, but which will undoubtedly be explored and exploited in the more or less near future.

In October 2019, explains The Atlantic, a young man named Jordan Janz was the first to receive an experimental treatment for cystinosis, a genetic disease that was killing him slowly. Affecting the kidneys in particular, this is manifested by an excess of cystine, an amino acid, in the cells of certain organs – among which are also the liver, the pancreas, the brain, the eyes and most of the muscles. On average, a person with this disease has a life expectancy of twenty-eight and a half years.

The treatment in question proved exhausting for this 20-year-old Canadian. It involved extracting stem cells from his bone marrow in order to modify them in the laboratory. After undergoing chemotherapy aimed at eliminating harmful cells from his body, Jordan Janz was able to receive the modified stem cells. Among the consequences of chemo for this patient, the appearance of sores in the mouth, so painful that he could no longer eat, but also the fall of his pale blond hair.

The native of Alberta, western Canada, had little hope; however, under the effect of the treatment, he gradually began to feel better, and his hair began to grow back. It was there that, to his great astonishment, he was able to see that his new hair had nothing to do with the old one: it was now “dark, almost black”, says The Atlantic. That was two and a half years ago; since then, the color has further evolved, gradually tending towards dark blond. “The other day my girlfriend was telling me she felt like she was dating someone else”says the interested party.

“It’s very surprising”, comments Stephanie Cherqui, a stem cell specialist who conducted the experiment at the University of California at San Diego. Surprising but not so superficial, since the scientists eventually realized that the darkening of the patient’s hair was probably an indicator that the therapy was working well.

In white people only

It turns out that many people with cystinosis tend to be paler than other members of their family. Many have blond hair and very fair skin. However, a study carried out on mice showed that the gene responsible for this disease also plays a role in the production of certain types of melanin, the pigment responsible for the coloring of the skin and hair.

Jordan Janz is not the only patient whose hair darkened: out of five individuals who followed the same treatment, four (all of them white) saw their hair darken. The fifth is currently waiting for his hair to grow back.

This finding does not extend to non-Caucasians, says The Atlantic. For example, in black-skinned patients, no difference in color (hair or skin) is observed compared to the rest of the family. “There may not be a strict correlation between disease severity and pigmentation”concedes Robert Ballotti, melanin specialist at Inserm.

Hair modification is of course quite anecdotal in the face of the real good news: it now seems possible to reverse cystinosis, even if the damage it has caused is not reversible. Jordan Janz will soon have to undergo a kidney transplant. But those affected by the disease in the future have a real chance of a full recovery, if detected early enough. And it is very likely that, in passing, the treatment will also change their hair color.

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