đź’¨ Abstract

The article discusses the challenges faced by patients with rare genetic diseases in Senegal, where resources are scarce and many conditions go undiagnosed. Neurologist Dr. Pedro Rodriguez is trying to address this issue by connecting patients with genetic testing and medical support, while gathering data to create a library of genetic information for scientists and clinicians. One example is a young girl, Mariama, who died from SELENON-related myopathy.

Courtesy: wtop.com

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