Genetics + Genomics

Using only a computer, an Internet connection, and publicly accessible online resources, a team of Whitehead Institute researchers has been able to identify nearly 50 individuals who had submitted personal genetic material as participants in genomic studies. 

A large-scale analysis of Y chromosomes from more than 20,000 men finds that two spontaneously recurring deletions along a complex region of the Y chromosome are responsible for approximately 8% of cases of failed sperm production.

Whitehead Institute researchers report that common assumptions employed in the generation and interpretation of data from global gene expression analyses can lead to seriously flawed conclusions about gene activity and cell behavior in a wide range of current biological research.

Whitehead Institute researchers have determined the mechanism used by c-Myc to increase the expression of all active genes in cancer cells. Elevated levels of c-Myc are linked to increased rates of metastasis, disease recurrence, and mortality in cancer patients. Guided by this new model, researchers hope to find ways to restrict c-Myc's activity to eradicate cancer cells that become dependent on c-Myc for their survival.

New genetic markers identified by researchers at Whitehead Institute and MIT could help make the process for reprogramming regular body cells into pluripotent stem cells more efficient, allowing scientists to predict which treated cells will successfully become pluripotent.

By examining the results of genome-wide association studies (GWAS) in conjunction with experiments on mouse and human red blood cells (RBCs), researchers in the lab of Whitehead Institute Founding Member Harvey Lodish have identified the protein cyclin D3 as regulating the number of cell divisions RBC progenitors undergo, which ultimately affects the resulting size and quantity of RBCs.

Using a stepwise trans-differentiation process, Whitehead Institute researchers have turned skin cells into embryonic Sertoli-like cells.

Whitehead Institute scientists have determined that master transcription factors determine the genes regulated by key signaling pathways. In this way, signaling pathways are targeted to genes that are most relevant to each cell type and tailor gene expression to control cell state, growth, differentiation, and death.

Whitehead Institute researchers have created a three-step algorithm, lobSTR, that in one day accurately and simultaneously profiles more than 100,000 short tandem repeats (STRs) in one human genome sequence—a feat that previous systems could never complete.