Mutation News and Research

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Study reveals far more genetic mutations involved in formation of colon cancer

Researchers at UT Southwestern Medical Center say there are at least 70 genetic mutations involved in the formation of colon cancer, far more than scientists previously thought.

18 Jul 2011

Experimental online tool launched to guide HIV treatment decisions without the need for resistance testing

A new free online service with the potential to help HIV treatment in countries with limited healthcare resources was launched today. The system accurately predicts how patients will respond to different combinations of drugs without the need for expensive tests to read the viral genetic code. Data presented today at the 6th IAS Conference on HIV Pathogenesis, Treatment and Prevention (IAS 2011) demonstrated the accuracy of the system for patients in Romania and South Africa whose treatment was failing (abstract MOPE146).

18 Jul 2011

Scientists use two methods to manipulate disease-causing mutations in stem cells

Using two distinct methods, Whitehead Institute researchers have successfully and consistently manipulated targeted genes in both human embryonic stem (ES) cells and induced pluripotent stem (iPS) cells.

16 Jul 2011

Research: 17 genetic mutations linked to colon cancer formation

Researchers at UT Southwestern Medical Center say there are at least 70 genetic mutations involved in the formation of colon cancer, far more than scientists previously thought.

16 Jul 2011

Researchers discover new gene mutation associated with Parkinson's

Researchers have discovered a new gene mutation they say causes Parkinson's disease. The mutation was identified in a large Swiss family with Parkinson's disease, using advanced DNA sequencing technology.

16 Jul 2011

Researchers discover new gene linked to intellectual disability

A gene linked to intellectual disability was found in a study involving the Centre for Addiction and Mental Health (CAMH) - a discovery that was greatly accelerated by international collaboration and new genetic sequencing technology, which is now being used at CAMH.

15 Jul 2011

Scientists analyze structural changes in calcium channels caused by Timothy-mutation

The human genome encodes 243 voltage-gated ion channels. Mutations in calcium channels can cause severe inherited diseases such as migraine, night blindness, autism spectrum disorders and Timothy syndrome, which leads to severe cardiovascular disorders.

15 Jul 2011

BioMarin commences BMN 673 Phase 1 trial in hematological malignancies

BioMarin Pharmaceutical Inc. today announced the initiation of a Phase 1 trial for BMN 673, a poly ADP-ribose polymerase (PARP) inhibitor, for the treatment of patients with advanced hematological malignancies.

15 Jul 2011

USPTO awards patent for Convergen LifeSciences' CNVN202 to treat lung cancer

Convergen LifeSciences, Inc. announced today that another United States Patent 7,977,468 has been awarded by the U.S. Patent and Trademark Office jointly to The University of Texas System Board of Regents and The Secretary, U.S. Department of Health and Human Services.

14 Jul 2011

Positive data from Inovio's VGX-3400X Phase I study against H5N1 influenza

Inovio Pharmaceuticals, Inc., a leader in the development of therapeutic and preventive vaccines against cancers and infectious diseases, announced today that significant T cell and antibody responses were generated in its Phase I clinical study of VGX-3400X, a SynCon DNA vaccine for the prevention of avian H5N1 influenza delivered using intramuscular (IM) electroporation.

14 Jul 2011

Scientists discover new mechanism of drug resistance in hospital microbes

Hospitals struggle to prevent the infections that complicate treatment for cancer, joint replacement, heart surgery and other conditions. Hospital-acquired infections are often resistant to multiple antibiotics, leading to approximately 100,000 deaths and more than $30 billion in additional health care costs yearly.

14 Jul 2011

UW scientists determine atomic architecture of sodium channel

Scientists at the University of Washington (UW) in Seattle have determined the atomic architecture of a sodium channel. The achievement opens new possibilities for molecular medicine researchers around the world in designing better drugs for pain, epilepsy, and heart rhythm disturbances.

14 Jul 2011

Accelrys releases Discovery Studio software for biotherapeutics research

Accelrys, Inc., a leading scientific enterprise R&D software and services company, today announced a new release of the Discovery Studio life sciences modeling and simulation software.

14 Jul 2011

Hutchinson Center receives $20M NIH grant to eradicate HIV infection

Whether a stem cell transplant using an HIV-infected person's own genetically modified immune cells can become a cure for the disease is the focus of a new $20 million, five-year research grant award announced today by the National Institutes of Health to Fred Hutchinson Cancer Research Center.

12 Jul 2011

Big news for ankylosing spondylitis sufferers

In a medical breakthrough, researchers from the University of Queensland have found that there is a possible genetic link in a specific painful form of arthritis, which fuses bones in the spine and pelvis.

12 Jul 2011

Alnylam seeks CTA clearance to initiate ALN-PCS Phase I clinical trial for severe hypercholesterolemia

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has filed a Clinical Trial Application (CTA) with the Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase I clinical trial with ALN-PCS, an RNAi therapeutic for the treatment of severe hypercholesterolemia.

11 Jul 2011

Researchers identify new antibiotic-resistant gonorrhea strain

An international research team has discovered a strain of gonorrhea resistant to all currently available antibiotics. This new strain is likely to transform a common and once easily treatable infection into a global threat to public health.

11 Jul 2011

New tool reveals mutations that cause HIV-drug resistance

Protease inhibitor drugs are one of the major weapons in the fight against HIV, the virus that causes AIDS, but their effectiveness is limited as the virus mutates and develops resistance to the drugs over time.

11 Jul 2011

Nature journal publishes landmark genetic study of ovarian cancer

A University of Houston researcher is an author on a landmark multi-institutional genetic study of the most aggressive and common form of ovarian cancer that is published in the current issue of the scientific journal Nature.

11 Jul 2011

Scientists identify de novo mutations linked to schizophrenia

De novo mutations - genetic errors that are present in patients but not in their parents - are more frequent in schizophrenic patients than in normal individuals, according to an international group of scientists led by Dr. Guy A. Rouleau of the University of Montreal and CHU Sainte-Justine Hospital.

11 Jul 2011