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Researchers identify novel signaling pathway responsible for neuroprotective activity of parkin

Researchers from Ludwig-Maximilians-Universitaet (LMU) in Munich identify a novel signal transduction pathway, which activates the parkin gene and prevents stress-induced neuronal cell death.

2 Mar 2013

Friedreich's Ataxia costs between £11,000 and £19,000 per person per year

What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively this rare disease costs between £11,000 and £19,000 per person per year.

28 Feb 2013

Surgical site infections appear to have significant genetic connections

An estimated 300,000 U.S. patients get surgical site infections every year, and while the causes are varied, a new University of Utah study suggests that some who get an infection can blame it partly on their genes.

27 Feb 2013

Researchers improve NanoVelcro device to better grab cancer cells as blood passes by them

Researchers at UCLA report that they have refined a method they previously developed for capturing and analyzing cancer cells that break away from patients' tumors and circulate in the blood. With the improvements to their device, which uses a Velcro-like nanoscale technology, they can now detect and isolate single cancer cells from patient blood samples for analysis.

26 Feb 2013

LabCorp introduces GeneSeq: Carido for familial cardiac disease

Laboratory Corporation of America Holdings today announced it has launched its clinical next generation sequencing assay, GeneSeq: Cardio for genetic causes of familial cardiac disease.

26 Feb 2013

Genetic testing strategy for familial high cholesterol questioned

Current testing strategies for the families of patients with familial hypercholesterolemia may not be an efficient use of health resources, suggest study results published in The Lancet.

25 Feb 2013

Individuals with psychogenic disease do have brains that function differently

Psychogenic diseases, formerly known as 'hysterical' illnesses, can have many severe symptoms such as painful cramps or paralysis but without any physical explanation. However, new research from the University of Cambridge and UCL (University College London) suggests that individuals with psychogenic disease, that is to say physical illness that stems from emotional or mental stresses, do have brains that function differently.

25 Feb 2013

Systemic delivery of antisense oligonucleotides neutralizes mutant RNA toxicity in mice with DM1

By targeting the specific mutation that causes the hereditary neuromuscular disease myotonic dystrophy, it is possible to neutralize the mutant RNA toxicity and minimize or even eliminate the disabling symptoms of the disease.

25 Feb 2013

Duke researchers focus on deadly math behind mutated genes and damaged cells that drive cancer

Two Duke researchers are focusing on the deadly mathematics behind the mutated genes and damaged cells that drive cancer.

25 Feb 2013

New drug proves to be effective in preventing spread of different flu strains

The new drug has been proven to be effective in preventing the spread of different strains of influenza in laboratory models - including resistant strains of the virus.

24 Feb 2013

Leading cancer researcher, Dr. Lewis Cantley, named a winner of the inaugural Breakthrough Prize in Life Sciences

Dr. Lewis Cantley, a leading cancer researcher credited with discovering a family of enzymes fundamental to understanding cancer, was named a winner of the inaugural Breakthrough Prize in Life Sciences, the world’s richest academic prize for medicine and biology. The prize, which carries a $3 million cash award, recognizes excellence in research aimed at curing intractable diseases and human life.

22 Feb 2013

New drug to safeguard against epidemic and pandemic flu strains

CSIRO scientists have helped to design a new drug to safeguard against epidemic and pandemic flu strains – as published in Science today.

22 Feb 2013

Familial Hypercholesterolaemia patients often inherit small-effect changes in several genes rather than a large-effect mutation in a single gene

Research published Online First in The Lancet provides new evidence that a substantial proportion of individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH) inherit a combination of small-effect changes in several genes (polygenic) rather than a large-effect mutation in a single gene (monogenic).

22 Feb 2013

Combined complement mutations affect individuals' risk of aHUS and prognosis

Certain gene mutations affect individuals' risk of developing a serious kidney condition, as well as their prognosis after being diagnosed with the disease, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN).

22 Feb 2013

IntegraGen, Lab21 collaborate to develop new microRNA assay for colorectal cancer

Lab21 Limited, the global specialist in personalised medicine and clinical diagnostics, has entered into an agreement with IntegraGen, a leading player in the development and marketing of molecular diagnostic testing in autism and oncology, to develop a microRNA assay for colorectal cancer designed to further improve patient outcomes.

22 Feb 2013

Vanderbilt investigators report new insights into workings of calprotectin

On the front lines of our defenses against bacteria is the protein calprotectin, which "starves" invading pathogens of metal nutrients. Vanderbilt investigators now report new insights to the workings of calprotectin - including a detailed structural view of how it binds the metal manganese.

22 Feb 2013

Study finds new mutation in UBIAD1 gene that causes Schnyder corneal dystrophy

Research conducted by Dr. Jayne S. Weiss, Professor and Chair of Ophthalmology at LSU Health Sciences Center New Orleans, and colleagues has discovered a new mutation in a gene that causes Schnyder corneal dystrophy (SCD.)

22 Feb 2013

Researchers use familial and sporadic patient-derived iPSCs to model Alzheimer's disease

Working with a group from Nagasaki University, a research group at the Center for iPS Cell Research and Application (CiRA) at Japan's Kyoto University has announced in the Feb. 21 online publication of Cell Stem Cell has successfully modeled Alzheimer's disease (AD) using both familial and sporadic patient-derived induced pluripotent stem cells (iPSCs), and revealed stress phenotypes and differential drug responsiveness associated with intracellular amyloid beta oligomers in AD neurons and astrocytes.

21 Feb 2013

Cancer genetics pioneer, Bert Vogelstein, awarded the Breakthrough Prize in Life Sciences

Bert Vogelstein, M.D., co-director of the Ludwig Center at Johns Hopkins and a Howard Hughes Medical Institute investigator has been awarded the Breakthrough Prize in Life Sciences. He was selected for his landmark work in cancer genomics and tumor suppressor genes.

21 Feb 2013

Daclatasvir has two primary modes of action against HCV

A study by researchers from Los Alamos National Laboratory and a multinational team reveals how daclatasvir, a direct-acting antiviral agent in development for the treatment of hepatitis C virus (HCV), targets one of its proteins and causes the fastest viral decline ever seen with anti-HCV drugs - within 12 hours of treatment.

21 Feb 2013

Mutation News and Research

Researchers identify novel signaling pathway responsible for neuroprotective activity of parkin

Friedreich's Ataxia costs between £11,000 and £19,000 per person per year

Surgical site infections appear to have significant genetic connections

Researchers improve NanoVelcro device to better grab cancer cells as blood passes by them

LabCorp introduces GeneSeq: Carido for familial cardiac disease

Genetic testing strategy for familial high cholesterol questioned

Individuals with psychogenic disease do have brains that function differently

Systemic delivery of antisense oligonucleotides neutralizes mutant RNA toxicity in mice with DM1

Duke researchers focus on deadly math behind mutated genes and damaged cells that drive cancer

New drug proves to be effective in preventing spread of different flu strains

Leading cancer researcher, Dr. Lewis Cantley, named a winner of the inaugural Breakthrough Prize in Life Sciences

New drug to safeguard against epidemic and pandemic flu strains

Familial Hypercholesterolaemia patients often inherit small-effect changes in several genes rather than a large-effect mutation in a single gene

Combined complement mutations affect individuals' risk of aHUS and prognosis

IntegraGen, Lab21 collaborate to develop new microRNA assay for colorectal cancer

Vanderbilt investigators report new insights into workings of calprotectin

Study finds new mutation in UBIAD1 gene that causes Schnyder corneal dystrophy

Researchers use familial and sporadic patient-derived iPSCs to model Alzheimer's disease

Cancer genetics pioneer, Bert Vogelstein, awarded the Breakthrough Prize in Life Sciences

Daclatasvir has two primary modes of action against HCV

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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