genome

By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled a detailed catalog of human genetic variation to find the genetic roots of rare and common diseases in populations worldwide. ​

Decoding the DNA of patients with advanced breast cancer has allowed scientists to identify distinct cancer “signatures” that could help predict which women are most likely to benefit from estrogen-lowering therapy, while sparing others from unnecessary treatment.

Scientists at Washington University School of Medicine in St. Louis are using powerful DNA sequencing technology not only to identify mutations at the root of a patient’s tumor – considered key to personalizing cancer treatment – but to map the genetic evolution of disease and monitor response to treatment.

By mapping the evolution of cancer cells in patients with myelodysplastic syndromes who later died of leukemia, Timothy Graubert, Matthew Walter and their Washington University colleagues have found clues to suggest that targeted cancer drugs should be aimed at mutations that develop early in the disease.

Researchers, including Richard Wilson, PhD, director of The Genome Institute, have identified the first gene mutation associated with a chronic and often fatal form of neuroblastoma that typically strikes adolescents and young adults. The finding provides the first clue about the genetic basis of the long-recognized but poorly understood link between treatment outcome and age at diagnosis.

Scientists at Washington University School of Medicine in St. Louis, including Jimmy Lin, PhD, are reaching out to patient advocacy groups and offering to decode the DNA of 99 patients with rare diseases to help find the genetic alterations responsible for their illnesses. The patients’ DNA will be sequenced by the university’s Genomics and Pathology Services (GPS) at no cost to patients or advocacy groups.

New research from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) shows that mutations linked to a rare, lethal childhood tumor of the brainstem play a unique role in other aggressive pediatric brain tumors. The findings offer important insight into a poorly understood tumor that kills more than 90 percent of patients within two years.

Washington University’s Department of Genetics has established the Genome Technology Access Center to offer high-speed genome sequencing and other advanced genetic technologies to scientists both within and beyond the university.  

Two new studies in the Journal of the American Medical Association by Washington University researchers including Timothy Ley, MD, and Richard Wilson, PhD, highlight the power of sequencing cancer patients’ genomes as a diagnostic tool, helping doctors decide the best course of treatment and researchers identify new cancer susceptibility mutations that can be passed from parent to child.

In the single largest cancer genomics investigation reported to date, scientists have sequenced the whole genomes of tumors from 50 breast cancer patients and compared them to the matched DNA of the same patients’ healthy cells. They uncovered incredible complexity in the cancer genomes, but also got a glimpse of new routes toward personalized medicine.