Dr. Pengfei Liu, an associate professor of molecular and human genetics at Baylor College of Medicine, has stated that researchers are employing trans differentiation to diagnose Mendelian disorders. Their groundbreaking findings have been published in the American Journal of Human Genetics.
"This is especially problematic in neurological diseases because the gene causing the disorder may not be expressed in blood and skin cells," said Pengfei Liu, according to Baylor College of Medicine. "This new testing method represents a paradigm shift in laboratory genetics."
According to Baylor College of Medicine, their team of researchers have utilized RNA sequencing to comprehend human cell differentiation. However, it's been observed that RNA sequencing is restricted in its capacity to express only disease-associated genes. This limitation implies that the genes involved can only access skin or blood cells. Consequently, certain disorders cannot be expressed by RNA sequencing as they may not be expressed through skin and blood cells, particularly in the case of neurological disorders. To address this challenge, Baylor College researchers have resorted to using transdifferentiation and transforming fibroblasts into neurons.
Baylor College of Medicine further elaborates on how transdifferentiation has resolved their issue. Moreover, this method has altered the conventional approach in the lab from a DNA-centric focus to a patient's individual cells-centric study. Liu expresses his enthusiasm for applying this innovative method, which has been predominantly used for understanding the pathways of neurodegenerative diseases, to genetics.
According to Baylor College of Medicine, Dr. Liu completed his education at Baylor College of Medicine in Houston, Texas. He has received numerous accolades including the C.W. Cotterman Award and the Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award. His professional interests span from medical genetics to clinical whole genome sequencing (cWGS). Currently, he is spearheading research in cWGS and continues to investigate the technology and functions of genome sequencing.
