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, appeared in Genetics in Medicine , the official journal of the American College of Medical Genetics and Genomics. The story of our findings began with one patient I saw in the clinic presenting an uncommon combination of problems.
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." Dr.
Daniel Calame, first and co-corresponding author, instructor of pediatric neurology and developmental neurosciences at Baylor Calame enrolled the patient in the BCM GREGoR (Genomics Research to Elucidate the Genetics of Rare Diseases) research program. "We reanalyzed the patient's genetic and clinical data and that brought us to a gene, FLVCR1 , and a medical mystery to solve," Calame said. One gene, multiple conditions To try to understand how the rare FLVCR1 mutation in the patient could lead to the condition, Calame and his colleagues researched scientific literature on this gene.
Current evidence indicates that the FLVCR1 protein plays a key role in the production of red blood cells and in the transport of .