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Researchers discover genetic variant that raises risk of CHD

Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease.

27 May 2010

PDGFRA gene may lead to effective treatments for paediatric high grade glioma: Study

Scientists have discovered a gene that could lead to more effective treatments for a form of childhood brain cancer called paediatric high grade glioma.

21 May 2010

Study explores genetic imbalances that give rise to childhood brain tumors

The most comprehensive analysis yet of the genetic imbalances at the heart of childhood brain tumors known as high-grade gliomas (HGGs) identified a cancer gene that is unusually active in some tumors and is now the focus of a St. Jude Children's Research Hospital clinical trial.

21 May 2010

New data highlighting Pfizer's approach to cancer drug development to be presented at ASCO meeting

Pfizer Oncology will present new data highlighting the company's focused approach to cancer drug development through the identification and validation of molecular targets. These results will be presented at the 46th Annual American Society of Clinical Oncology meeting in Chicago from June 4-8.

21 May 2010

JCVI researchers construct first self-replicating, synthetic bacterial cell

Researchers at the J. Craig Venter Institute (JCVI), a not-for-profit genomic research organization, published results today describing the successful construction of the first self-replicating, synthetic bacterial cell. The team synthesized the 1.08 million base pair chromosome of a modified Mycoplasma mycoides genome.

21 May 2010

Researchers identify cancer gene that could help fight paediatric glioma

Researchers have identified an important cancer gene that could lead to more effective drugs being developed to fight paediatric high grade glioma, a disease which currently has a poor prognosis.

19 May 2010

Combination therapy proves to be effective treatment for lethal form of leukemia: Research

New research discovers a combination of drugs that may prove to be a more effective treatment for a lethal form of leukemia. The study, published by Cell Press in the May issue of the journal Cancer Cell, reports that the new therapeutic strategy effectively targets notoriously intractable leukemia stem cells that often escape standard treatment and are a main factor in disease relapse.

18 May 2010

Tufts University's School of Arts and Sciences receives $9.5M grant to create research space

Tufts University's School of Arts and Sciences has received a $9.5 million grant to create research space that will house a Collaborative Cluster in Genome Structure and Developmental Patterning in Health and Disease.

17 May 2010

Genes living in the outskirts of chromosomes more prone to duplication: Study

The ability of yeast cells to convert sugar to alcohol, the key process in the production of beer and wine, can be attributed to a remarkable evolutionary process. The genes that allow yeast to digest sugars in fruits and grains have been duplicated several times over the course of time - allowing for optimal conversion of different types of sugars (such as sucrose and maltose) into alcohol.

17 May 2010

Research sheds light on early embryogenesis, genetic disease

Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome) is the most common human chromosome deletion syndrome, having an estimated incidence of at least one in 4,000 live births.

15 May 2010

Oxygen levels induce X chromosome inactivation in female cells: Study

Oxygen levels in the lab can permanently alter human embryonic stem (ES) cells, specifically inducing X chromosome inactivation in female cells, according to Whitehead Institute researchers. Human ES cells have been routinely created and maintained at atmospheric levels of oxygen, which is about 20%. Cells in the body are usually exposed to only 1-9% oxygen.

14 May 2010

Hana Biosciences reports $5.5 million net loss for first-quarter 2010

Hana Biosciences Inc.,, a biopharmaceutical company focused on strengthening the foundation of cancer care, today reported financial results for the first quarter ended March 31, 2010, and provided a corporate update.

14 May 2010

Researchers determine how cells regulate chromosome/microtubule interface

Whitehead Institute researchers have determined a key part of how cells regulate the chromosome/microtubule interface, which is central to proper chromosomal distribution during cell division.

14 May 2010

ISCA recommends chromosomal microarray as new standard for genetic evaluation of children

An international consortium of genetics experts has issued a consensus statement recommending chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects.

14 May 2010

Research sheds light on prenatal heart formation, chromosome 22q.11 deletion syndrome

Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, embryos without the protein do not survive past the first few days of gestation.

13 May 2010

Genetic variations do not improve ability to predict risk of AD: Study

Although genome-wide analysis identified two genetic variations associated with Alzheimer disease, these variations did not improve the ability to predict the risk of AD, according to a study in the May 12 issue of JAMA.

12 May 2010

Gene variations may increase risk of developing schizophrenia: Study

By analyzing the genomes of patients with schizophrenia, genetics researchers have discovered numerous copy number variations—deletions or duplications of DNA sequences—that increase the risk of developing schizophrenia. Significantly, many of these variations occur in genes that affect signaling among brain cells.

11 May 2010

UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections in the brain. Their findings appear in the April 29 issue of Neuron.

10 May 2010

Scientists discover key molecular mechanism in breast cancer metastasis

Scientists at the University of Kentucky Markey Cancer Center have identified a key molecular mechanism in breast cancer that enables tumor cells to spread to adjacent or distant parts of the body in a process called metastasis.

5 May 2010

Researchers identify genes associated with cleft lip and/or cleft palate

An international consortium of scientists, led by researchers at Johns Hopkins University has identified two genes that when altered are closely associated with cleft lip and/or cleft palate. Cleft lip and cleft palate are among the world's most common congenital malformations and occur in one in every 700 births. The finding is the result of the largest family-based, genome-wide study of cleft lip and/or cleft palate conducted to date. The results were published online by the journal Nature Genetics.

3 May 2010