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An experimental therapy for a rare genetic disease has led to a patient’s unexpected change in hair color. A strange discovery for a real medical advance.
In 2019, Jordan Janz is the first patient to receive an experimental treatment for cystinosis, characterized by the deficit in the transport of an amino acid (cystine) – and therefore its accumulation -, which can have an impact on several organs, in particular the kidney, liver, or eye. This young Canadian, 20 years old at the time, knew that he only had a few years left to live, since the life expectancy of a patient with cystinosis rarely exceeds 28 years.
A grueling treatment with surprising consequences
Until then, no treatment had been able to cure cystinosis. This therefore appeared as a great medical advance, but was not without consequences.
The doctors had to extract stem cells from the patient’s bone marrow in order to modify them in the laboratory. At the same time, Jordan Janz was undergoing chemotherapy. The purpose of this treatment? Eliminate malignant cells from the patient’s body, especially from his bone marrow, before he receives genetically modified cells, with anti-cystine proteins.
Evidence of the efficacy of gene therapy
The treatment thus led to the formation of extremely painful sores in the patient’s mouth, but also to hair loss. Her hair, originally blond (even white), has all fallen out. They then grew back, but of a completely different color: black.
According The Atlantic, Jordan Janz’s hair growing back to another shade would mean the gene therapy worked. The anti-cystine proteins from his modified cells must have reached the hair follicles in his skin. There, they eliminated the excess cystine which blocked (among other things) the normal production of melanin, and her hair became darker.
According to the researchers, this discovery is a beacon of hope for all patients with cystinosis, who could see their life expectancy considerably increased thanks to gene therapy.