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Treating Sickle Cell Disease with L-Glutamine

By focusing on how best to help patients, researchers can sometimes find solutions that are much simpler than anticipated. That has been the guiding approach to our efforts to develop a treatment for sickle cell disease.

3 Jul 2012

Study confirms a rare susceptibility variant in glioma

Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor.

3 Jul 2012

New platform for analysis of next generation sequencing data developed by Compugen

Compugen Ltd. (NASDAQ: CGEN) announced today the development of "NexGen," a new platform designed to significantly enhance Compugen’s overall infrastructure for predictive drug and drug target discovery. NexGen is designed to analyze Next Generation Sequencing data which is now beginning to be generated worldwide through RNA-Seq methodology.

2 Jul 2012

FOXO1 gene may play an important role in pathological mechanisms of Parkinson's

A recent study led by researchers at Boston University School of Medicine (BUSM) revealed that the FOXO1 gene may play an important role in the pathological mechanisms of Parkinson's disease.

29 Jun 2012

Researchers identify genes that influence degeneration of the hippocampus

In a genome-wide association (GWA) study, researchers from Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) have identified several genes which influence degeneration of the hippocampus, the part of the brain most associated with Alzheimer disease (AD).

29 Jun 2012

Researchers use DNA molecules to stimulate repair of nerve coatings that mimic MS

Mayo Clinic researchers have successfully used smaller, folded DNA molecules to stimulate regeneration and repair of nerve coatings in mice that mimic multiple sclerosis (MS). They say the finding, published today in the journal PLoS ONE, suggests new possible therapies for MS patients.

29 Jun 2012

Scientists now have clues to how GATA4 gene mutation leads to septal defects in babies with CHD

Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers.

27 Jun 2012

Novel small-molecule-inhibiting drug stops spread of breast cancer cells

Scientists have developed a small-molecule-inhibiting drug that in early laboratory cell tests stopped breast cancer cells from spreading and also promoted the growth of early nerve cells called neurites.

22 Jun 2012

A novel candidate gene in human early-onset degenerative ataxias

Researchers at the University of Helsinki and the Folkh-lsan Research Center, Finland, have identified the genetic cause of early-onset progressive cerebellar degeneration the Finnish Hound dog breed. The study, led by Professor Hannes Lohi, revealed a new disease mechanism in cerebellar degeneration. A mutation was identified in the SEL1L gene, which has no previous link to inherited cerebellar ataxias.

18 Jun 2012

Ancient hepatitis B may hold clues to viral evolution, spread

The evolution of the hepatitis B virus and its possible migration have become clearer with the sequencing of the oldest sample of the virus, isolated from a mummified 16th-century Korean child, say scientists.

6 Jun 2012

$Gene variant linked to postmenopausal fracture risk$

Gene variant linked to postmenopausal fracture risk

Women who carry a variation in a gene involved in blocking bone morphogenic proteins are more likely to have fragility fractures than women without the variant, Greek research shows.

1 Jun 2012

Gender link discovered for colorectal cancer

Researchers have identified three new colorectal cancer risk loci, including one on the X-chromosome, bringing the total number of independent loci associated with the disease to 20.

30 May 2012

Scientists identify 20 distinct gene mutations in patients with FGD

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

30 May 2012

X-chromosome involved in development of bowel cancer

Scientists have shown for the first time that one of the sex chromosomes is involved in the development of a cancer that can afflict both genders, according to a Cancer Research UK-funded study in Nature Genetics.

28 May 2012

Overactive BAALC gene found in people with acute leukemia

A small inherited change in DNA is largely responsible for overactivating a gene linked to poor treatment response in people with acute leukemia.

25 May 2012

Science journal’s NEWSFOCUS section describes recent advances in sequencing technology

Rapid DNA sequencing may soon become a routine part of each individual's medical record, providing enormous information previously sequestered in the human genome's 3 billion nucleotide bases. This week's NEWSFOCUS section of the journal Science describes recent advances in sequencing technology.

From Oxford Nanopore Technologies 23 May 2012

Special feature of Science journal highlights protein array technology

A special feature in this week's issue of the journal Science highlights protein array technology, touching on research conducted by Joshua LaBaer, director of the Biodesign Institute's Virginia G. Piper Center for Personalized Diagnostics.

23 May 2012

Rare DNA variations may be responsible for differences in susceptibility to common disorders

One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and evolutionary biologists report in the May 17 advanced online edition of Science.

19 May 2012

Researchers identify 57 SNPs associated with autism

By focusing on the identification of common genetic variants, researchers have identified 57 single nucleotide polymorphisms (SNPs) that predict-with a high degree of certainty--the risk that siblings of children with Autism Spectrum Disorder (ASD) will also develop the condition. The findings were presented at the International Meeting for Autism Research.

18 May 2012

Scientists identify and prioritize genes associated with schizophrenia

An Indiana University-led research team, along with a group of national and international collaborators, has identified and prioritized a comprehensive group of genes most associated with schizophrenia that together can generate a score indicating whether an individual is at higher or lower risk of developing the disease.

16 May 2012