Researchers identify gene for rare dementia

Studying family members suspected of having Alzheimer’s disease, researchers at Washington University School of Medicine in St. Louis have identified a gene that causes a rare disorder highlighted by memory loss and motor impairments. The condition is known as Kufs disease, but scientists say the discovery paves the way to development of a genetic test for Kufs and to therapies to treat dementia, which is a hallmark of Kufs and of other neurodegenerative conditions, such as Alzheimer’s disease. 

Surprising pathway implicated in stuttering

Researchers at Washington University School of Medicine in St. Louis, including Stuart A. Kornfeld, MD, have obtained new evidence that at least some persistent stuttering is caused by mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts. Beyond a simple association, the study provides the first evidence that mutations affecting cellular recycling centers called lysosomes actually play a role in causing some people to stutter. 

New service brings power of genomics to patient care

Genomics and Pathology Services at Washington University School of Medicine in St. Louis (GPS@WUSTL), directed by Karen Seibert, PhD, is now offering a test for mutations in 28 genes associated with cancer. The genes in the test affect a variety of different types of tumors, including blood, lymph, lung, brain, bladder, kidney, skin, stomach, prostate and breast cancers.

Washington People: Matthew J. Ellis

Breast cancer expert Matthew Ellis, MD, PhD, works with the Genome Institute at Washington University to sequence entire breast cancer genomes — the billions of “letters” making up a person’s DNA. The goal is to unlock the mysteries of breast cancer and tailor treatments to individual patients.

Probiotic protects intestine from radiation injury

Scientists at Washington University School of Medicine in St. Louis have shown that taking a probiotic before radiation therapy can protect the intestine from damage — at least in mice. Their study suggests that taking a probiotic also may help cancer patients avoid intestinal injury, a common problem in those receiving radiation therapy for abdominal cancers.
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