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Scientists evaluate two different strategies to treat Usher syndrome

After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to finding a successful treatment approach. The scientists in the Usher research group of Professor Dr. Uwe Wolfrum are evaluating two different strategies. These involve either the repair of mutated genes or the deactivation of the genetic defects using agents.

6 Dec 2012

Hebrew University researchers pave way for development of new approaches to cure malaria

More than a million people die each year of malaria caused by different strains of the Plasmodium parasite transmitted by the Anopheles mosquito. The medical world has yet to find an effective vaccine against the deadly parasite, which mainly affects pregnant women and children under the age of five. By figuring out how the most dangerous strain evades the watchful eye of the immune system, researchers from the Hebrew University of Jerusalem have now paved the way for the development of new approaches to cure this acute infection.

4 Dec 2012

Childhood trauma can leave permanent epigenetic marks on DNA

Abused children are at high risk of anxiety and mood disorders, as traumatic experience induces lasting changes to their gene regulation. Scientists from the Max Planck Institute of Psychiatry in Munich have now documented for the first time that genetic variants of the FKBP5 gene can influence epigenetic alterations in this gene induced by early trauma.

3 Dec 2012

New genetic study defines biology behind brain developmental disorder in children

This study describes how a combination of sequencing and mouse models were used to identify the gene responsible for a brain developmental disorder seen in four patients.

1 Dec 2012

New insights into POT-1/TTP-1 protein complex

New insights into a protein complex that regulates the very tips of chromosomes could improve methods of screening anti-cancer drugs.

30 Nov 2012

UBE3B gene linked to brain development disorder in children

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this gene, UBE3B, has been linked to a disease.

30 Nov 2012

Childhood obesity risk can be predicted at birth

A simple formula can predict at birth a baby's likelihood of becoming obese in childhood, according to a study published today in the open access journal PLOS ONE.

29 Nov 2012

Chronic suppurative lung disease: an interview with Dr Robyn Marsh

Chronic suppurative lung disease, or CSLD, is used to describe a range of lung diseases characterised by a chronic wet cough and progressive lung damage. We are interested in the non-cystic fibrosis forms of the disease with a focus on bronchiectasis – the severe form of CSLD.

26 Nov 2012

Human Food Project, University of Colorado Boulder launch American Gut

Ever wondered who is living in your gut, and what they're doing? The trillions of microbial partners in and on our bodies outnumber our own cells by as many as 10 to 1 and do all sorts of important jobs, from helping digest the food we eat this Thanksgiving to building up our immune systems.

22 Nov 2012

Study provides new insight into human cognitive function and risk for neurological diseases

Short snippets of DNA found in human brain tissue provide new insight into human cognitive function and risk for developing certain neurological diseases, according to researchers from the Departments of Psychiatry and Neuroscience at Mount Sinai School of Medicine. The findings are published in the November 20th issue of PLoS Biology.

22 Nov 2012

Induced-pluripotent stem cells not as genetically unstable as previously thought

Stanford University School of Medicine scientists have demonstrated, in a study conducted jointly with researchers at Yale University, that induced-pluripotent stem cells - the embryonic-stem-cell lookalikes whose discovery a few years ago won this year's Nobel Prize in medicine - are not as genetically unstable as was thought.

19 Nov 2012

MRSA outbreak tracked and contained using DNA sequencing

Scientists have used DNA sequencing for the first time to effectively track the spread of, and ultimately contain, an outbreak of methicillin-resistant Staphylococcus aureus (MRSA), according to new research published in The Lancet Infectious Diseases.

14 Nov 2012

DNA sequencing helps detect MRSA outbreaks in hospitals

This study used DNA sequencing to examine an outbreak of MRSA in a hospital, to uncover new cases and, as the study developed, to intervene in the outbreak to end it more quickly. Sequencing illuminated each person infected and described the transmission of MRSA between people coming to the hospital and within the hospital.

14 Nov 2012

Whole genome sequencing could become prenatal standard of care

Whole genome sequencing of the DNA code of prenatal samples accurately and quickly identifies the location of chromosomal abnormalities, and could become a prenatal standard of care, researchers propose.

9 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Maternal bariatric surgery affects cardiovascular risk profile of offsprings

Kids born to moms who have lost a substantial amount of weight after undergoing bariatric surgery have fewer cardiovascular risk factors than their siblings who were born before the weight loss surgery.

29 Oct 2012

Ancestry could simplify searches for harmful mutations

Explosive advancement in human genome sequencing opens new possibilities for identifying the genetic roots of certain diseases and finding cures. However, so many variations among individual genomes exist that identifying mutations responsible for a specific disease has in many cases proven an insurmountable challenge.

26 Oct 2012

Novel approach to assemble the 'connectome' via genetic barcoding

A team of neuroscientists has proposed a new and potentially revolutionary way of obtaining a neuronal connectivity map (the "connectome") of the whole brain of the mouse. The details are set forth in an essay published October 23 in the open-access journal PLOS Biology.

24 Oct 2012

Methylation provides clues to gastric cancer subtypes

Research published in Science Translational Medicine shows that many gastric cancers are associated with significant epigenetic alterations along the DNA triggered by methylation.

22 Oct 2012