Mutation News and Research

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Johns Hopkins, Iverson enter licensing agreement for molecular diagnostics

Iverson Genetic Diagnostics, Inc. announced today an exclusive licensing agreement with Johns Hopkins University School of Medicine under which Iverson receives global exclusive commercialization rights for molecular diagnostics that are designed to help physicians to assess cardiovascular risk in men and women and infertility risk in women.

12 Oct 2012

Dana-Farber expert offers tips to reduce risk of breast cancer

According to the American Cancer Society, about one in eight women will develop breast cancer in her lifetime. This year, nearly 40,000 women in the United States will die from the disease.

12 Oct 2012

USC project seeks to answer important questions about cancer

Three groups of University of Southern California (USC) researchers-representing medicine, chemistry and chemical engineering-are recipients of highly competitive grants from the National Institutes of Health's National Cancer Institute (NCI).

11 Oct 2012

Leading scientists select first drugs to be evaluated in Alzheimer's clinical study

Leading scientists have selected the first drugs to be evaluated in a worldwide clinical study to determine whether they can prevent Alzheimer's disease.

11 Oct 2012

NCI identifies method by which cancerous mRNA escapes the body's safeguards

In innumerable spy movies, the hero or a villain imprints a key in clay in order to later make an exact copy. In the body, the clay is messenger RNA, or mRNA, which imprints a gene and transfers the plans to a ribosome, where the mRNA's code is manufactured into a protein - the shady shop where the clay imprint becomes a key.

11 Oct 2012

Modifying factors may be responsible for non-diabetic kidney disease in African-Americans

The high rate of non-diabetic kidney disease in African-Americans is strongly associated with variations in a particular gene. Yet, not everyone who inherits these variations develops the disease.

10 Oct 2012

Study identifies cellular adhesion molecules key to cancer metastasis

Although tumor metastasis causes about 90 percent of cancer deaths, the exact mechanism that allows cancer cells to spread from one part of the body to another is not well understood. One key question is how tumor cells detach from the structural elements that normally hold tissues in place, then reattach themselves in a new site.

10 Oct 2012

RMND1 gene mutations responsible for severe neurodegenerative disorders

Scientists at the Montreal Neurological Institute and Hospital - The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

10 Oct 2012

Researchers examine relationships between HIV and poverty, food security in separate studies

Foreign Policy reports on "a recent study by Ashley Fox of the Mount Sinai School of Medicine [that] compares rates of HIV infection across 170 regions in 16 sub-Saharan African countries."

9 Oct 2012

Genetic basis of uterine fibroids uncovered

A mutation located near the fatty acid synthase gene is associated with an increased predisposition for uterine leiomyomata or fibroids, suggest US study findings.

8 Oct 2012

Translational Genomics Research Institute creates new center for rare childhood disorders

The Translational Genomics Research Institute (TGen) today announced the creation of a new center that could have life changing effects on the lives of potentially thousands of children and their families.

6 Oct 2012

Progress toward preventing initial and recurrent episodes of C. diff infection

Surgeons are making progress toward preventing initial and recurrent episodes of clostridium difficile colitis (C. difficile or C. diff), a vicious bacterial infection that is estimated to affect about 336,000 people each year, typically patients on antibiotics.

6 Oct 2012

Scripps Health receives Qualcomm Foundation grant to support digital medicine research projects

Scripps Health announced today that it has been awarded a $3.75 million grant from the Qualcomm Foundation, to be used for the Scripps Translational Science Institute, which was established by Scripps Health in collaboration with various parties to support the development of breakthrough digital technologies designed to revolutionize the practice of medicine.

4 Oct 2012

Ketamine can help improve brain function in Rett syndrome mice

A promising study out today in the prestigious Journal of Neurosciences showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating the animals with an FDA-approved anesthesia drug, ketamine.

4 Oct 2012

New spontaneous genetic mutations play a significant role in schizophrenia

Columbia University Medical Center (CUMC) researchers have identified dozens of new spontaneous genetic mutations that play a significant role in the development of schizophrenia, adding to the growing list of genetic variants that can contribute to the disease.

4 Oct 2012

Lecture to discuss insights into genes and neurodegenerative diseases gleaned from baker's yeast

Insights into our genes and neurodegenerative diseases gleaned from humble baker's yeast, among other things, will be showcased by genetics experts at a free public lecture.

4 Oct 2012

Roche announces availability of new HIV-1 viral load test in the U.S.

Roche announced today the U.S. availability of a new HIV-1 viral load test based on the company's proprietary dual-target approach. The COBAS TaqMan HIV-1 Test v2.0 for use with the High Pure System enables labs to combine an FDA-approved process for manual specimen preparation with an automated real-time PCR analyzer for amplification and detection.

From Roche Sequencing and Life Science 4 Oct 2012

NF1 gene mutations cause noninheritable or spontaneous breast cancers

Cancerous tumors contain hundreds of mutations, and finding these mutations that result in uncontrollable cell growth is like finding the proverbial needle in a haystack. As difficult as this task is, it's exactly what a team of scientists from Cornell University, the University of North Carolina, and Memorial Sloan-Kettering Cancer Center in New York have done for one type of breast cancer.

3 Oct 2012

New mouse model could foster ALS, Paget's and dementia breakthroughs

Efforts to treat disorders like Lou Gehrig's disease, Paget's disease, inclusion body myopathy and dementia will receive a considerable boost from a new research model created by UC Irvine scientists.

3 Oct 2012

Experimental stem cell treatment improves vision in blind mice

An experimental treatment for blindness, developed from a patient's skin cells, improved the vision of blind mice in a study conducted by Columbia ophthalmologists and stem cell researchers.

3 Oct 2012