Genetics + Genomics

Inherited methylation—a form of epigenetic regulation passed down from parents to offspring—is far more dynamic than previously thought and may contribute to changes in the brain and other tissues over time. This finding by Whitehead Institute scientists challenges current understandings of gene regulation via methylation, from development through adulthood.  

Using a novel method, Whitehead Institute researchers have determined how mutations that are not located within genes are identified through genome-wide association studies (GWAS) and can contribute to sporadic Parkinson’s disease, the most common form of the condition. The approach could be used to analyze GWAS results for other sporadic diseases with genetic causes, such as multiple sclerosis, diabetes, and cancer.

In a finding with enormous implications for cancer diagnostics and therapeutics, Whitehead Institute scientists have discovered that breaches in looping chromosomal structures known as “insulated neighborhoods” can activate oncogenes capable of fueling aggressive tumor growth. 

A team of researchers from Whitehead Institute and Queen Mary University of London (QMUL) have identified in follicular lymphoma tumors a mutated protein that could serve as a biomarker to predict therapeutic response.

Whitehead Institute researchers have created a map of the DNA loops that comprise the three dimensional (3D) structure of the human genome and contribute to gene regulation in human embryonic stem cells. The location of genes and regulatory elements within this chromosomal framework will help scientists better navigate their genomic research, establishing relationships between mutations and disease development.

Using two complementary analytical approaches, scientists at Whitehead Institute and Broad Institute of MIT and Harvard have for the first time identified the universe of genes in the human genome essential for the survival and proliferation of human cell lines or cultured human cells. Their findings and the materials they developed in conducting the research will not only serve as invaluable resources for the global research community but should also have application in the discovery of drug-targetable genetic vulnerabilities in a variety of human cancers.

Whitehead Institute researchers have developed a tool that allows scientists to monitor changes in DNA methylation over time in individual cells. Certain diseases, including cancer, cause changes in DNA methylation patterns, and the ability to document these alterations could aid in the development of novel therapies.

Leveraging a novel system designed to examine the double-strand DNA breaks that occur as a consequence of gene amplification during DNA replication, Whitehead Institute scientists are bringing new clarity to the causes of such genomic damage. Moreover, because errors arising during DNA replication and gene amplification result in chromosomal abnormalities often found in malignant cells, these new findings may bolster our understandings of certain drivers of cancer progression.