Genomic Medicine: Pretzel Syndrome and Rapamycin
Pretzel syndrome sounds like it could be a dietary problem, but in fact it is a hideous disease of newborns among Old Order Mennonites who present epilepsy, neurocognitive delay, craniofacial distortions and remain completely dependent as long as they live. No anti-seizure medicine, thus far, has been effective. But researchers at the University of Pennsylvania and the Clinic for Special Children (Strasburg, PA) have found that rapamycin, a drug best known for preventing transplant rejection, was highly effective in minimizing the seizures. While Pretzel syndrome is a rare disease, understanding its genomic complexities is useful for comprehending the neurological, immunological, and physiological components of more common disorders. MORE