New study explains why genetic mutations cause disease in some people but not in others

IMAGE: This is Tuuli Lappalainen, Ph.D., Core Faculty Member at the New York Genome Center, and Assistant Professor in the Department of Systems Biology at Columbia University. view more 

Credit: New York Genome Center

NEW YORK, NY (August 20, 2018) – Researchers at the New York Genome Center (NYGC) and Columbia University have uncovered a molecular mechanism behind one of biology’s long-standing mysteries: why individuals carrying identical gene mutations for a disease end up having varying severity or symptoms of the disease. In this widely acknowledged but not well understood phenomenon, called variable penetrance, the severity of the effect of disease-causing variants differs among individuals who carry them.

Reporting in the August 20 issue of Nature Genetics, the researchers provide evidence for modified penetrance, in which genetic variants that regulate gene activity modify the disease risk caused by protein-coding gene variants. The study links modified penetrance to specific diseases at the genome-wide level, which has exciting implications for future prediction of the severity of serious diseases such as cancer and autism spectrum disorder.

NYGC Core Faculty Member and Columbia University Department of Systems Biology Assistant Professor Dr. Tuuli Lappalainen led the study alongside post-doctoral research fellow Dr. Stephane Castel.


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