Mutation News and Research

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Individuals without ubiquitin ligase Nedd4L more likely to develop CF

Cystic fibrosis (CF), a chronic disease that clogs the lungs and leads to life-threatening lung infections, is caused by a genetic defect in a chloride channel called cystic fibrosis transmembrane conductase regulator.

20 Sep 2011

Scientists identify oldest known DNA regulatory region

A team of scientists has discovered the oldest known DNA regulatory region, as reported in an article in the journal Proceedings of the National Academies of Sciences.

20 Sep 2011

UNC researchers develop technique that can observe cellular intricacies of CF

When researchers discovered the primary genetic defect that causes cystic fibrosis (CF) back in 1989, they opened up a new realm of research into treatment and a cure for the disease. Since then, scientists have been able to clone the defective gene and study its effects in animals. Now researchers at the University of North Carolina at Chapel Hill have developed a technique for observing the defects at work in human tissue donated by patients with CF.

20 Sep 2011

Researcher identifies genetic mutation responsible for adermatoglyphia

Like DNA, fingerprints are unique to each person or set of identical twins. That makes them a valuable identification tool for everything from crime detection to international travel. But what happens when the tips of our fingers are missing those distinctive patterns of ridges?

19 Sep 2011

NeuroVive, Selcia sign research collaboration agreement to develop new mitochondrial drugs

UK-based contract research organisation Selcia Limited and Swedish drug development company NeuroVive Pharmaceutical AB have signed a significant research collaboration agreement to develop new medicines and drug compounds targeting mitochondrial physiology and pathophysiology.

19 Sep 2011

CWRU receives NCI grant to advance treatment of gastrointestinal cancers

The National Cancer Institute has awarded $11.3 million to Case Western Reserve University School of Medicine to establish a center of excellence for research on gastrointestinal cancers.

19 Sep 2011

Landmark international study confirms common genetic contribution to mental illness

An international research consortium has confirmed that common genetic variants contribute to a person’s risk of schizophrenia and bipolar disorder. The largest study of its kind provides new molecular evidence that 11 regions have strong association with these diseases, including six regions not previously observed. The researchers also found that many of these DNA variations contribute to both diseases. The findings, reported by the Psychiatric Genome-Wide Association Study Consortium (PGC) and published online in two papers in the journal Nature Genetics, represent significant advances in the understanding the causes of these severe and often debilitating disorders.

18 Sep 2011

Researchers discover molecular-level changes in brains of women with major depressive disorder

Researchers at the University of Pittsburgh School of Medicine have discovered molecular-level changes in the brains of women with major depressive disorder that link two hypotheses of the biological mechanisms that lead to the illness. Their results, published online this week in Molecular Psychiatry, also allowed them to recreate the changes in a mouse model that could enhance future research on depression.

17 Sep 2011

Case Western Reserve awarded $11.3M to establish gastrointestinal cancer research center

The National Cancer Institute has awarded $11.3 million to Case Western Reserve University School of Medicine to establish a center of excellence for research on gastrointestinal cancers. The funding designates the university as a Specialized Program of Research Excellence (SPORE) in Gastrointestinal (GI) Cancers - recognition extended to just one institution this year.

17 Sep 2011

Researchers show how protein fortilin promotes growth of cancer cells

Researchers have shown for the first time that the protein fortilin promotes growth of cancer cells by binding to and rendering inert protein p53, a known tumor suppressor. This finding by researchers at the University of Texas Medical Branch may lead to treatments for a range of cancers and atherosclerosis, which p53 also helps prevent, and appears in the current print issue of the Journal of Biological Chemistry.

17 Sep 2011

Vesicular stomatitis virus kills cancer cells

In a new project, researchers from LIFE - the Faculty of Life Sciences at the University of Copenhagen - document that the vesicular stomatitis virus (VSV) plays a previously unknown dual role in the prevention of a number of cancers. The new findings show that the virus both kills cancer cells and stops the expression of the molecules which certain types of cancer cells produce to hide from the immune system.

17 Sep 2011

Estrogen therapy can reverse progression of pulmonary hypertension

UCLA researchers have found that the hormone estrogen may help reverse advanced pulmonary hypertension, a rare and serious condition that affects 2 to 3 million individuals in the U.S., mostly women, and can lead to heart failure.

16 Sep 2011

Scientists uncover unknown fail-safe pathway for inherited disorders

Scientists at the University of California, San Diego School of Medicine have uncovered a previously unknown fail-safe (compensatory) pathway that potentially protects the brain and other organs from genetic and environmental threats.

16 Sep 2011

Researchers identify promising new therapies for ependymoma

Researchers have identified promising new therapies for ependymoma, a rare tumor with few treatment options. St. Jude Children's Research Hospital investigators led the effort, which used a new, faster drug development system that combines the latest drug screening technology with the first accurate animal model of the tumor.

16 Sep 2011

Experts urge women to recognize warning signs of ovarian cancer, receive appropriate screenings

Ovarian cancer is a rare but often deadly disease that can strike at any time in a woman's life. It affects one in 70 women and in the past was referred to as a silent killer, but researchers have found there are symptoms associated with ovarian cancer that can assist in early detection. Experts at Northwestern Memorial say the best defense is to make use of preventive methods, understand the risks and recognize potential warning signs of ovarian cancer.

16 Sep 2011

Something like 'Contagion' could happen for influenza

In the new movie "Contagion," fictional health experts scramble to get ahead of a flu-like pandemic as a drug-resistant virus quickly spreads, killing millions of people within days after they contract the illness.

15 Sep 2011

ITA president hosts International Small Bowel Transplant Symposium

Fifty-two year-old Paul McNeel, a fire chief from Leonardtown, Maryland was 37 in 1996 when a sudden health problem caused the loss of his small intestine. Almost all of it had to be surgically removed to save his life. For 13 years after that, McNeel continued to fight fires and stayed alive only because he fed himself a special liquid formula through a tube that went from a port in his chest directly to his heart and into his bloodstream.

15 Sep 2011

Fast-track genetic diagnosis for hearing loss

Over 28 million Americans are hearing impaired, and 50 percent of these cases can be traced to genetic causes. The condition can be especially challenging for children born hearing impaired because spoken language, reading, and cognitive development are tied to hearing. That makes early diagnosis essential for identifying appropriate therapy and treatment.

15 Sep 2011

DiscoveryBioMed receives NIDDK grant for Cystic Fibrosis Corrector Ligand Drug Discovery program

DiscoveryBioMed, Inc. (DBM), a human cell-based drug discovery company, learned recently that its Cystic Fibrosis Corrector Ligand (CFCL) Drug Discovery program will be funded by the NIH. The two-year award will focus on validation and prioritization of several lead CFCL chemical classes, drugs that correct the most common cystic fibrosis (CF) disease-causing mutation.

14 Sep 2011

Scientists decode new mechanism that regulates cell polarity in epithelial tissues, neurons

In the course of examining the Drosophila tumor suppressor gene (Dlg), scientists at the Helmholtz Zentrum München have succeeded in decoding a new mechanism that regulates cell polarity in epithelial tissues or in neurons in the brain.

14 Sep 2011