Six New Rare Diseases Identified by Exome-Genome Data Mining Project
May 5, 2021
A new study has found six novel gene-disease associations for a wide range of genetic disorders and confirmed 31 additional candidate genes. The findings are a result of in-depth analyses using Centogene’s rare disease Bio/Databank, after standard genetic testing was unable to determine the exact cause of patients’ symptoms. Based on these results, over 90 patients finally received a diagnosis, and many others could also benefit. In addition, the study revealed potential treatment options for patients based on known-disease overlaps.
Genetics in Medicine.
Using it’s rare disease Bio/Databank, Centogene carried out an extensive exome and genome sequencing evaluation of genes with no known disease association in patients suffering as yet undiagnosed genetic disease.