Genetics & Genomics

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Study in multiancestry populations uncovers new insights into breast cancer genetics 

The study identified 332 independent association signals for breast cancer risk, including 131 signals not previously reported.

Alzheimer’s study details abnormal gene expression tied to blood vessel growth

The study sets out how gene expression that drives the formation of new blood vessels exhibits different patterns, cell by cell, in the brains of people with Alzheimer’s disease.

Proteomic signature a key to early detection of fatty liver disease: study

Currently, methods to detect early, obesity-related accumulation of fat in the liver other than a liver biopsy — the surgical removal of liver tissue for microscopic examination — are limited. But there is hope.

VUMC part of multisite team investigating genetic markers of anorexia nervosa

With funding from the newly established Sarah Kyle Anorexia Nervosa Research Foundation, the researchers hope to identify biomarkers that will point to novel targets for prevention and treatment.

Study identifies that higher West African ancestry may contribute to worse breast cancer outcomes 

The study found that West African genetic ancestry was associated with shorter disease-free survival, particularly for women with hormone receptor-positive/human epidermal growth factor receptor 2-negative breast cancer.

Members of the Kang lab include (front row from left) Melissa Deleeuw, Jing-Qiong (Katty) Kang, MD, PhD, Wangzhen Shen, MD, and Karishma Randhave, and (back row from left) Ekta Anand, Debbie Song, and Kirill Zavalin, PhD. (photo by Susan Urmy)

Therapy for genetic epilepsy in children showing promise

Preliminary results of a clinical trial of 4-phenylbutyrate (PBA) “show a significant reduction in seizure activity among participants.”

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