Software Identifies Disease-Causing Gene Mutations in Three Children

How can a patient hope to receive appropriate treatment if no one knows what’s wrong? Utah Genome Project investigator Mark Yandell, Ph.D., has developed a software tool, called Phevor, that identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families.

In research published in the American Journal of Human Genetics, Phevor successfully identified disease-causing gene mutations in three children. The study cites the case of a 6-month-old infant who was ill with what appeared to be a liver problem, but the child’s health care providers couldn’t diagnose exactly what was wrong. Phevor solved the mystery by identifying the disease and finding an unknown gene mutation that caused it. In two other cases, Phevor identified unknown gene mutations related to an immunodeficiency disease and autoimmunity disorder in the same way – by sifting through sequenced parts of the genomes of the two young patients and two or three family members.

“With Phevor, just having the DNA sequence will enable clinicians to identify rare and undiagnosed diseases and disease-causing mutations,” said collaborator and Utah Genome Project executive director, Lynn Jorde, Ph.D. “In some cases, they’ll be able to make the diagnosis in their own offices.”

Read more about the study.

Phevor Software Solves Undiagnosed Diseases