Tag: Genetics + Genomics

Images of cells with normal and abnormal CENP-A deposition

Faithful cell division requires tightly controlled protein placement at the centromeres

July 17, 2014

The protein CENP-A, which is integrated into human DNA at the centromere on each chromosome, has a vital role in cell division. Work from Whitehead Institute Member Iain Cheeseman’s lab describes how the vital and tightly controlled replenishment of CENP-A progresses.

Human red blood cells supported on a glass slide.

Engineered red blood cells could carry precious therapeutic cargo

June 30, 2014

Whitehead Institute scientists have genetically and enzymatically modified red blood cells to carry a range of valuable payloads—from drugs, to vaccines, to imaging agents—for delivery to specific sites throughout the body.

Graphic summary

Lost in translation? Not when it comes to control of gene expression during Drosophila development

May 29, 2014

The lab of Whitehead Member Terry Orr-Weaver has conducted perhaps the most comprehensive look yet at changes in translation and protein synthesis during a developmental change, using the oocyte-to-embryo transition in Drosophila as a model system. One of the insights from this research is that a surprisingly large number of mRNAs that are translationally regulated.

Image of cells affected and unaffected by NPC gene mutation

Combination therapy a potential strategy for treating Niemann-Pick disease

May 15, 2014

Whitehead Institute researchers have identified a potential dual-pronged approach to treating Niemann-Pick type C (NPC) disease, a rare but devastating genetic disorder. By studying nerve and liver cells grown from NPC patient-derived induced pluripotent stem cells (iPSCs), the scientists determined that although cholesterol does accumulate abnormally in the cells of NPC patients, a more significant problem may be defective autophagy—a basic cellular function that degrades and recycles unneeded or faulty molecules, components, or organelles in a cell. Here, the scientists propose two drugs, one to reduce cholesterol buildup and the other to induce autophagy, as a strategy for treating NPC.

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.

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