An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted by researchers at Baylor College of Medicine, National University of Singapore and collaborating institutions worldwide, was published in Genetics in Medicine.
“The story of our findings began with one patient I saw in the clinic presenting an uncommon combination of problems,” said first and co-corresponding author Dr. Daniel Calame, instructor of pediatric neurology and developmental neurosciences at Baylor.
“The patient had severe developmental conditions, epilepsy and complete insensitivity to pain, which was very atypical. The condition had remained undiagnosed despite numerous tests conducted by geneticists and neurologists.”
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