Tag: Genetics + Genomics

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.

Image: Glucocorticoids stimulates the production of ZFP36l2, which promotes the self-renewal of BFU-Es.

Scientists identify potential drug target for treatment-resistant anemias

June 9, 2013

Researchers at Whitehead Institute have identified a key target protein of glucocorticoids, the drugs that are used to increase red blood cell production in patients with certain types of anemia, including those resulting from trauma, sepsis, malaria, kidney dialysis, and chemotherapy.

Cartoon of CRISPR/Cas technique

Scientists revolutionize the creation of genetically altered mice to model human disease

May 2, 2013

Using a bacteria-based technique, Whitehead Institute Founding Member Rudolf Jaenisch has efficiently created mouse models with multiple gene mutations in a matter of weeks.

Diagram comparing enhancers and super-enhancers of two cell types

Genetic master controls expose cancers’ Achilles’ heel

April 11, 2013

In a surprising finding that helps explain fundamental behaviors of normal and diseased cells, Whitehead Institute scientists have discovered a set of powerful gene regulators dubbed “super-enhancers” that control cell state and identity.

Model of mitochondrion

Engineering cells for more efficient biofuel production

February 17, 2013

Whitehead Institute and MIT chemical engineers and biologists have now devised a way to dramatically boost isobutanol production in yeast, which naturally make it in small amounts. They engineered yeast so that isobutanol synthesis takes place entirely within mitochondria, cell structures that generate energy and also host many biosynthetic pathways.

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