Mutation News and Research

RSS

ARIAD reports net income of $13.9 million for third quarter 2011

ARIAD Pharmaceuticals, Inc. today reported financial results for the third quarter of 2011 and provided an update on its corporate developments.

3 Nov 2011

Study reveals what causes lysosome to overflow in Batten disease

Waste management is a big issue anywhere, but at the cellular level it can be a matter of life and death. A Weizmann Institute study, published in the Journal of Cell Biology, has revealed what causes a molecular waste container in the cell to overflow in Batten disease, a rare but fatal neurodegenerative disorder that begins in childhood.

3 Nov 2011

Ivacaftor drug improves lung function in people with cystic fibrosis

A new study has confirmed that the drug, ivacaftor (VX-770), significantly improves lung function in some people with cystic fibrosis (CF). The results of the phase III clinical trial study, "A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation," led by Bonnie W. Ramsey, MD of Seattle Children's Research Institute and the University of Washington, were published today in the New England Journal of Medicine.

3 Nov 2011

UC Merced professor designs powerful chemical inhibitor against HIV

In a significant step toward reducing the threat of HIV, UC Merced Professor Patricia LiWang has designed what may be the most effective chemical inhibitor against infection of the virus.

3 Nov 2011

Broader screening for hypertrophic cardiomyopathy

Around one in 500 Swedes carry a genetic mutation which can cause sudden cardiac death. The diagnosis can lead to major lifestyle changes, but quality of life can be maintained with the right advice and support, reveals a new study from the Sahlgrenska Academy at the University of Gothenburg, Sweden.

2 Nov 2011

HRM curve analysis identifies patients at risk of MH

A new DNA test may make it much simpler to identify patients at risk of malignant hyperthermia (MH)—a rare but life-threatening complication of exposure to common anesthetics reports the November issue of Anesthesia & Analgesia, official journal of the International Anesthesia Research Society.

2 Nov 2011

Bacteria rapidly exchange genetic information related to human disease and antibiotic resistance

Much as people can exchange information instantaneously in the digital age, bacteria associated with humans and their livestock appear to freely and rapidly exchange genetic material related to human disease and antibiotic resistance through a mechanism called horizontal gene transfer (HGT).

2 Nov 2011

No evidence of increased breast cancer risk for non-carriers of genetic mutations

Mothers, sisters and daughters from breast cancer families with known genetic mutations do not all share the same high risk of developing the disease, according to a new international study involving the University of Melbourne.

2 Nov 2011

TERE1 gene mutation also contributes to invasive bladder cancer

Research conducted by Dr. Jayne S. Weiss, Professor and Chair of Ophthalmology at LSU Health Sciences Center New Orleans, and colleagues has found that a defect in a gene involved in a rare disease of the cornea also contributes to the progression of invasive bladder cancer.

2 Nov 2011

First study to show how H. pylori toxin can spur apoptosis

Researchers report they have figured out how the cancer-causing bacterium Helicobacter pylori attacks a cell's energy infrastructure, sparking a series of events in the cell that ultimately lead it to self-destruct.

2 Nov 2011

Potential drug therapy for Hutchinson Gilford Progeria Syndrome

Researchers have identified a potential drug therapy for a premature ageing disease that affects children causing them to age up to eight times as fast as the usual rate.

2 Nov 2011

Breast cancer not 100% inherited: Study

According to study results released this Monday, women with a close relative with breast cancer may not be at a higher risk of getting breast cancer. The findings may bring comfort to women from high-risk families after a 2007 study suggested that simply having a relative with a BRCA1 or BRCA2 mutation raised their risk of developing breast cancer, even if they had tested negative for the genes.

1 Nov 2011

Scientists identify genetic mutation that causes rare childhood disease

An international collaboration of scientists, including researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the National Institutes of Health, has identified a genetic mutation that causes a rare childhood disease characterized predominantly by inflammation and fat loss.

1 Nov 2011

Non-carriers do not have increased risk of breast cancer due to familial mutation

A population-based analysis of more than 3,000 families including women with breast cancer has found that close relatives of women who carry mutations in a BRCA gene - but who themselves do not have such genetic mutations - do not have an increased risk of developing breast cancer compared to relatives of women with breast cancer who do not have such mutations.

1 Nov 2011

Scientists discover how toxic form of htt protein causes Huntington's symptoms

Scientists at the Gladstone Institutes have discovered how a form of the protein linked to Huntington's disease influences the timing and severity of its symptoms, offering new avenues for treating not only this disease, but also a variety of similar conditions.

31 Oct 2011

Researchers identify FMRP protein as key player in RNA editing

The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others.

31 Oct 2011

Third Annual Translational Cancer Medicine Symposium to be held on Dec. 2

The University of Hawaii Cancer Center and The Queen's Medical Center (QMC) will host an international symposium on Friday, December 2, 2011 from 8:15 a.m. - 4:30 p.m. at The Queen's Conference Center Auditorium to discuss new information related to the recent discovery of the BAP1 genetic mutation and its link to mesothelioma, melanoma and potentially other cancers.

29 Oct 2011

Scientists discover Leishmania parasite with juggling chromosomes

Scientists found a deadly parasite with some of its chromosomes in duplicate, others in triplicate, while still others are present four or even five times. Moreover, the copy number varies between individuals. Such a bizarre occurrence has never before been found in nature, in any organism. As a rule, chromosomes should come in couples. The scientists, from the Institute of Tropical Medicine (ITG) and the Wellcome Trust Sanger Institute, made the striking discovery while deciphering the genetic code of a series of Leishmania-parasites.

29 Oct 2011

Ambry to use Agilent SureSelect Target Enrichment System for exome sequencing

Agilent Technologies Inc. and Ambry Genetics today announced an agreement under which Ambry Genetics will use the Agilent SureSelect Target Enrichment System for exome sequencing services.

28 Oct 2011

UCLA professor to receive ATA's Sidney H. Ingbar Distinguished Lectureship Award

The American Thyroid Association's (ATA) Sidney H. Ingbar Distinguished Lectureship Award recognizes outstanding academic achievements in thyroidology. An honorarium is conferred each year at the ATA Annual Meeting to an established investigator who has made major contributions to thyroid-related research over many years.

28 Oct 2011