At the Boston University School of Medicine, researchers have discovered a gene, called HuP2, that plays a key role in congenital deafness. The BU team, led by Dr. Aubrey Milunsky, tracked six generations of a family in Brazil. Scientists examined the DNA of 60 family members--26 of whom had Waardenburg syndrome, a rare disease that can cause deafness and other symptoms. The researchers also studied 50 unrelated people who did not have the disease.
The tests showed that the HuP2 gene had mutated in all of those who had the syndrome, while there was no defect in the gene of the unaffected family members or the control group. The discovery will enable scientists to make a precise diagnosis of the syndrome and provide genetic counseling, Milunsky says. He believes gene therapy might one day enable physicians to repair the defect. In addition, he says, the research may yield new insights into how genes switch on and off during early development.