Tag: Genetics + Genomics

Photo of girl with hemifacial microsomia (HFM)

Scientists find gene behind a highly prevalent facial anomaly

May 9, 2014

Whitehead Institute scientists have identified a genetic cause of a facial disorder known as hemifacial microsomia (HFM). The researchers find that duplication of the gene OTX2 induces HFM, the second-most common facial anomaly after cleft lip and palate.

From liability to viability: Genes on the Y chromosome prove essential for male survival

April 23, 2014

The human Y chromosome has over the course of millions of years of evolution managed to preserve a small set of genes that has ensured not only its own survival but also the survival of men. Moreover, the vast majority of these tenacious genes appear to have little if any role in sex determination or sperm production. Taken together, these remarkable finding suggest that because these Y-linked genes are active across the body, they may actually be contributing to differences in disease susceptibility and severity observed between men and women.

Schematic of how interrupting ATPIF1 rescues cells with mitochondrial dysfunction

Scientists find potential target for treating mitochondrial disorders

March 27, 2014

Mitochondria, long known as “cellular power plants” for their generation of the key energy source adenosine triphosphate (ATP), are essential for proper cellular functions. Mitochondrial defects are often observed in a variety of diseases, including cancer, Alzheimer’s disease, and Parkinson’s disease, and are the hallmarks of a number of untreatable genetic mitochondrial disorders whose manifestations range from muscle weakness to organ failure. Whitehead Institute scientists have identified a protein whose inhibition could hold the key to alleviating suffering caused by such disorders.

Diagram of the Nutrostat machine

How diabetes drugs may work against cancer

March 16, 2014

Scientists at Whitehead Institute have pinpointed a major mitochondrial pathway that imbues cancer cells with the ability to survive in low-glucose environments. By identifying cancer cells with defects in this pathway or with impaired glucose utilization, the scientists can predict which tumors will be sensitive to these anti-diabetic drugs known to inhibit this pathway.

Image of scissors cutting DNA

New gene-editing system enables large-scale studies of gene function

December 12, 2013

Since the completion of the Human Genome Project, which identified nearly 20,000 protein-coding genes, scientists have been trying to decipher the roles of those genes. A new approach developed at MIT, the Broad Institute, and the Whitehead Institute should speed up the process by allowing researchers to study the entire genome at once.

Microscope image of filamentation in Candida albicans with and without amphotericin B resistance

Understanding the evolution of drug resistance points to novel strategy for developing better antimicrobials

October 29, 2013

The most common fungal pathogen in humans, Candida albicans, rarely develops resistance to the antifungal drug amphotericin B (AmB).  This has been puzzling as the drug has been in clinical use for over 50 years. Whitehead Institute scientists have now discovered why.  The genetic mutations that enable certain strains of C. albicans to resist AmB simultaneously render it highly susceptible to environmental stressors and disarm its virulence factors.

schematic depicting super-enhancers controlling cell identity genes in embryonic stem cells

Super-enhancers seen as ‘Rosetta Stone’ for dialog between genes and disease

October 10, 2013

Having recently discovered a set of powerful gene regulators that control cell identity in a few mouse and human cell types, Whitehead Institute scientists are now showing that these regulators—which they named “super-enhancers”—act across a vast array of human cell types and are enriched in mutated regions of the genome that are closely associated with a broad spectrum of diseases.

Images of the size of Rett model cells and their nuclei compared to control cells

Rett syndrome gene dysfunction redefined

October 3, 2013

Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95% of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway.

Image of cells with reporters added using CRISPR/Cas

CRISPR/Cas genome engineering system generates valuable conditional mouse models

August 29, 2013

Whitehead Institute researchers have used the gene regulation system CRISPR/Cas (for “clustered regularly interspaced short palindromic repeat/CRISPR-associated) to engineer mouse genomes containing reporter and conditional alleles in one step. Animals containing such sophisticated engineered alleles can now be made in a matter of weeks rather than years and could be used to model diseases and study gene function.

Daigram of enzyme used in CRISPR-on

Novel approach to gene regulation can activate multiple genes simultaneously

August 27, 2013

By creating a powerful new gene regulation system called CRISPR-on, Whitehead Institute researchers now have the ability to increase the expression of multiple genes simultaneously and precisely manipulate each gene’s expression level. The system is effective in both mouse and human cells as well as in mouse embryos.

X chromosome

Sex chromosome shocker: The “female” X a key contributor to sperm production

July 21, 2013

Painstaking new analysis of the genetic sequence of the X chromosome—long perceived as the “female” counterpart to the male-associated Y chromosome—reveals that large portions of the X have evolved to play a specialized role in sperm production.

Image showing difference in Nanog markers

Study challenges long-held assumption of gene expression in embryonic stem cells

July 3, 2013

Whitehead Institute researchers have determined that the transcription factor Nanog, which plays a critical role in maintaining the self-renewal of embryonic stem cells, is expressed in a manner similar to other pluripotency markers.

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