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Gene therapies correct three forms of retinal degenerative diseases

Gene therapies developed by University of Pennsylvania School of Veterinary Medicine researchers have worked to correct different forms of blindness. While effective, the downside to these approaches to vision rescue is that each disease requires its own form of gene therapy to correct the particular genetic mutation involved, a time consuming and complex process.

17 Jan 2014

Kansas State University's research shows promise to fight novel avian H7N9 influenza virus

The novel avian H7N9 influenza virus has caused more than 130 human infections with 43 deaths in China. New research, conducted under the supervision of Kansas State University's Juergen Richt, is showing promise in helping to fight this deadly virus.

17 Jan 2014

New research shows promise in helping combat novel drug-resistant H7N9 influenza virus

16 Jan 2014

New gene therapy restores some sight in people born with inherited form of blindness

A new gene therapy has restored some sight in people born with an inherited, progressive form of blindness. The technique replaces a defective gene in the eye with a normal working copy of the gene using a single injection.

16 Jan 2014

Scientists develop novel treatment for Hairy Cell Leukaemia using drug administered to combat skin cancer

A team of scientists from the University of Leicester has demonstrated a novel treatment for Hairy Cell Leukaemia (HCL), a rare type of blood cancer, using a drug administered to combat skin cancer.

16 Jan 2014

International study develops refined method to identify individuals at risk for certain inherited cancer

An international study has developed a refined method to identify people at risk for certain inherited cancer as a result of Lynch syndrome.

15 Jan 2014

Research findings provide insights into risks associated with isolated mild hyperglycemia

Despite having mild hyperglycemia for approximately 50 years, patients with a mutation in the gene encoding the enzyme glucokinase had a low prevalence of clinically significant vascular complications, findings that provide insights into the risks associated with isolated mild hyperglycemia, according to a study in the January 15 issue of JAMA.

15 Jan 2014

BMH-21 chemical compound has ability to shut down a common cancer process

Johns Hopkins scientists say a previously known but little studied chemical compound targets and shuts down a common cancer process. In studies of laboratory-grown human tumor cell lines, the drug disrupted tumor cell division and prevented growth of advanced cancer cells.

15 Jan 2014

Researchers discover two genetic mutations associated with Familial Alzheimer's Disease

New research, led by Rensselaer Polytechnic Institute researcher Chunyu Wang, has solved one mystery in the development of Familial Alzheimer's Disease (FAD), a genetic variant of the disease that affects a small fraction of the Alzheimer's population. In a paper published online January 6 in the journal Nature Communications, Wang and his team follow the trail of two genetic mutations - V44M and V44A - known to cause FAD, and show how the mutations lead to biochemical changes long linked to the disease.

13 Jan 2014

Smoking and cancer: an interview with Dr. Lewis Foxhall, VP of Health Policy, University of Texas MD Anderson Cancer Center

The report Smoking and Health: Report of the Advisory Committee to the Surgeon General, identified tobacco as the predominant cause of lung cancer in men. This was the first widely disseminated report based on scientific studies showing the clear link between smoking tobacco and serious health conditions including cancer, chronic lung diseases and heart disease.

13 Jan 2014

BRAF mutation associated with other cancers appears to drive papillary craniopharyngiomas

A team led by investigators from Massachusetts General Hospital, Brigham and Women's Hospital and the Broad Institute has found that a gene mutation associated with several types of cancer also may be responsible for a rare but debilitating brain tumor called papillary craniopharyngioma.

13 Jan 2014

Scientists discover genetic signature mechanism in immune system as driving force for childhood leukaemia

Scientists have discovered a genetic signature that implicates a key mechanism in the immune system as a driving force for a type of childhood leukaemia.

13 Jan 2014

Scientists progress towards understanding how some bacterial cells escape being killed by antibiotics

Scientists have made an important advance in understanding how a subset of bacterial cells escape being killed by many antibiotics.

10 Jan 2014

Study shows wide-ranging variation in patterns of X chromosome inactivation in female mice

Producing brightly speckled red and green snapshots of many different tissues, Johns Hopkins researchers have color-coded cells in female mice to display which of their two X chromosomes has been made inactive, or “silenced.”

10 Jan 2014

Foundation Medicine announces discovery of high incidence of ERBB2 alterations in MPUC patients

Foundation Medicine, Inc. today announced the discovery of a high incidence of ERBB2 (HER2) extracellular domain alterations in patients with micropapillary urothelial carcinoma, a particularly aggressive form of urinary bladder cancer, using FoundationOne. The research was published in the current edition of Clinical Cancer Research.

10 Jan 2014

Brown University biochemist targets diabetes

People with type 2 diabetes can make insulin but their bodies use it so poorly that glucose levels run amok. It's been difficult for scientists to understand what's going awry in the way that tiny, fast-moving proteins signal and regulate glucose metabolism. As a result, while drugs can help somewhat, many patients still must monitor their glucose and inject insulin.

10 Jan 2014

Study provides details to help scientists design better vaccines for Plasmodium vivax

A form of malaria common in India, Southeast Asia and South America attacks human red blood cells by clamping down on the cells with a pair of proteins, new research at Washington University School of Medicine in St. Louis has revealed.

9 Jan 2014

GSK receives FDA approval for combination of Mekinist with Tafinlar for treatment of melanoma

GlaxoSmithKline plc announced today that the U.S. Food and Drug Administration (FDA) has approved Mekinist® (trametinib) for use in combination with Tafinlar® (dabrafenib) for the treatment of patients with unresectable melanoma (melanoma that cannot be removed by surgery) or metastatic melanoma (melanoma which has spread to other parts of the body) with BRAF V600E or V600K mutations.

9 Jan 2014

Research findings suggest possible blood test to identify cancer-related DNA defects

Some surprising research findings from scientists at The University of Texas MD Anderson Cancer Center suggest it's possible a simple blood test could be developed to determine whether gene mutations associated with pancreatic cancer exist without the need of locating and testing tumor tissue. This appears possible following the discovery that tiny particles the size of viruses called 'exosomes,' which are shed by cancer cells into the blood, contain the entire genetic blueprint of cancer cells. By decoding this genomic data and looking for deletions and mutations associated with cancer, the research team believes this discovery could be translated into a test that helps physicians detect cancer and treat patients.

9 Jan 2014

Researchers use stem cells to study bone disorders from patients afflicted with genetic bone disease

Researchers have developed a new way to study bone disorders and bone growth, using stem cells from patients afflicted with a rare, genetic bone disease.

9 Jan 2014

Mutation News and Research

Gene therapies correct three forms of retinal degenerative diseases

Kansas State University's research shows promise to fight novel avian H7N9 influenza virus

New research shows promise in helping combat novel drug-resistant H7N9 influenza virus

New gene therapy restores some sight in people born with inherited form of blindness

Scientists develop novel treatment for Hairy Cell Leukaemia using drug administered to combat skin cancer

International study develops refined method to identify individuals at risk for certain inherited cancer

Research findings provide insights into risks associated with isolated mild hyperglycemia

BMH-21 chemical compound has ability to shut down a common cancer process

Researchers discover two genetic mutations associated with Familial Alzheimer's Disease

Smoking and cancer: an interview with Dr. Lewis Foxhall, VP of Health Policy, University of Texas MD Anderson Cancer Center

BRAF mutation associated with other cancers appears to drive papillary craniopharyngiomas

Scientists discover genetic signature mechanism in immune system as driving force for childhood leukaemia

Scientists progress towards understanding how some bacterial cells escape being killed by antibiotics

Study shows wide-ranging variation in patterns of X chromosome inactivation in female mice

Foundation Medicine announces discovery of high incidence of ERBB2 alterations in MPUC patients

Brown University biochemist targets diabetes

Study provides details to help scientists design better vaccines for Plasmodium vivax

GSK receives FDA approval for combination of Mekinist with Tafinlar for treatment of melanoma

Research findings suggest possible blood test to identify cancer-related DNA defects

Researchers use stem cells to study bone disorders from patients afflicted with genetic bone disease

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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