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Oxidative stress strongly evident in the in-utero environment of the fetus with Down syndrome

A paper published in the Proceedings of the National Academy of Sciences by Tufts Medical Center and Tufts University researchers reports that amniotic fluid surrounding Down syndrome fetuses shows oxidative stress, a condition that could harm fetal cells and play a role in affected individuals. The results demonstrate secondary adverse consequences of Down syndrome and suggest potential prenatal therapies.

2 Jun 2009

Scientists create pig stem cells

Scientists have managed to induce cells from pigs to transform into pluripotent stem cells - cells that, like embryonic stem cells, are capable of developing into any type of cell in the body. It is the first time in the world that this has been achieved using somatic cells (cells that are not sperm or egg cells) from any animal with hooves (known as ungulates).

2 Jun 2009

Closing gaps in the human genome using sequencing by synthesis

Sequence gaps in human chromosome 15 have been closed by the application of 454 technology. Researchers writing in BioMed Central's open access journal Genome Biology have described a simple and scalable method for finishing non-structural gaps in genome assemblies.

1 Jun 2009

Glioblastoma may originate in neural stem cells

University of Michigan scientists have found that a deficiency in a key tumor suppressor gene in the brain leads to the most common type of adult brain cancer. The study, conducted in mice that mimic human cancer, points the way to more effective future treatments and a way to screen for the disease early.

1 Jun 2009

Discovery of gene associated with a three-fold increase in risk for testicular cancer

Researchers at the University of Pennsylvania School of Medicine have uncovered variation around two genes that are associated with an increased risk of testicular cancer.

31 May 2009

Genomic research lays groundwork for new approaches for treating, preventing skin diseases

The health of our skin - one of the body's first lines of defense against illness and injury - depends upon the delicate balance between our own cells and the millions of bacteria and other one-celled microbes that live on its surface.

28 May 2009

Discovery of genetic cause for primary biliary cirrhosis

Researchers have discovered a novel molecular path that predisposes patients to develop primary biliary cirrhosis, a disease that mainly affects women and slowly destroys their livers. Primary biliary cirrhosis has no known cause.

27 May 2009

Cohesin protein disrupts gene function in Cornelia deLange syndrome

An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.

26 May 2009

Discovery of genetic factors that influence the age at which natural menopause occurs in women

For the first time, scientists have been able to identify genetic factors that influence the age at which natural menopause occurs in women. Ms Lisette Stolk, a researcher from Erasmus MC, Rotterdam, The Netherlands, told the annual conference of the European Society of Human Genetics today ( Monday 25 May) that a greater understanding of the factors influencing age at menopause might eventually help to improve the clinical treatment of infertile women.

25 May 2009

Researchers discover six new genome sequences and fundamental insights to the Candida fungus family

An international research collaboration coordinated by UCD researchers and involving scientists at 21 institutes including the genome sequencing centres in the Wellcome Trust Sanger Institute, UK and the Broad Institute at MIT and Harvard, USA have defined six new genome sequences in the Candida fungus family and identified genetic differences in species that cause disease.

25 May 2009

Scientists map sequence mutations of the 2009 H1N1 influenza A virus

In just two weeks from the time the first patient virus samples were made available, Singapore scientists report an evolutionary analysis of a critical protein produced by the 2009 H1N1 influenza A virus strain.

22 May 2009

Getting more from whole-transcript microarrays

The widely-used Affymetrix Whole-Transcript Gene 1.0 ST (sense target) microarray platform, normally used to assay gene expression, can also be utilized to interrogate exon-specific splicing. Research published today in the open access journal BMC Bioinformatics shows scientists how to monitor alternative splicing activity on a genome-wide scale, without investing in new exon microarray technologies.

22 May 2009

New insights into a new strain of chlamydia

New sequencing and analysis of six strains Chlamydia will result in improved diagnosis of the sexually transmitted infection. This study provides remarkable insights into a new strain of Chlamydia that was identified in Sweden in 2006 after spreading rapidly across the country by evading most established diagnostic tests.

20 May 2009

Junk DNA may not be so ‘junky’ after all

Scientists have called it "junk DNA." They have long been perplexed by these extensive strands of genetic material that dominate the genome but seem to lack specific functions. Why would nature force the genome to carry so much excess baggage?

20 May 2009

NIH to develop therapeutics for rare and neglected diseases

The National Institutes of Health is launching the first integrated, drug development pipeline to produce new treatments for rare and neglected diseases. The $24 million program jumpstarts a trans-NIH initiative called the Therapeutics for Rare and Neglected Diseases program, or TRND.

20 May 2009

Autism discovery may explain why disorder strikes boys four times more than girls

UCLA scientists have discovered a variant of a gene called CACNA1G that may increase a child's risk of developing autism, particularly in boys. The journal Molecular Psychiatry publishes the findings in its May 19 advance online edition.

19 May 2009

Research may lead to improved TB vaccines

A team of Vanderbilt University Medical Center investigators has cracked one of clinical medicine's enduring mysteries - what happened to the tuberculosis vaccine. The once-effective vaccine no longer prevents the bacterial lung infection that kills more than 1.7 million people worldwide each year.

19 May 2009

Genetic variations may contribute to depression in heart disease patients

Individuals with heart disease are twice as likely to suffer from depression as the general population, an association the medical community has largely been unable to explain.

19 May 2009

Biological timekeeper studies reveal new temperature regulator and track clock protein across a day

Dartmouth Medical School geneticists have made new inroads into understanding the regulatory circuitry of the biological clock that synchronizes the ebb and flow of daily activities, according to two studies published May 15.

17 May 2009

New system to deliver siRNA into primary cells

In technology that promises to one day allow drug delivery to be tailored to an individual patient and a particular cancer tumor, researchers at the University of California, San Diego School of Medicine, have developed an efficient system for delivering siRNA into primary cells.

17 May 2009