Mutation News and Research

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MRI used as early warning system for Alzheimer's disease and dementia

When we absorb new information, the human brain reshapes itself to store this newfound knowledge. But where exactly is the new knowledge kept, and how does that capacity to adapt reflect our risk for Alzheimer's disease and other forms of senile dementia later in our lives?

12 Aug 2009

Discovery of genetic mutations that increase risk of schizophrenia

In collaboration with colleagues from across Europe, researchers from the University of Copenhagen and the Mental Health Services in the Capital Region of Denmark have found mutations in the human genome that lead to an increased risk of developing schizophrenia.

11 Aug 2009

Discovery of a genetic mutation underlying late-onset Leigh syndrome

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system.

11 Aug 2009

Holography helps tackle ovarian cancer

Two University of Arizona researchers have formed a research team to design, build and evaluate two versions of an ovarian cancer medical imaging and screening instrument that will use holographic components in a new type of optical microscope.

11 Aug 2009

Discovery of gene linked to maturity-onset diabetes of the young

Researchers at the Joslin Diabetes Center have linked another gene to a rare form of diabetes, a finding that could prove beneficial to those with the more common type 2 diabetes.

10 Aug 2009

Aethlon Medical tests Hemopurifier against H1N1 virus

Aethlon Medical, Inc. today disclosed that researchers have initiated testing of its Hemopurifier(R) as a candidate treatment against the H1N1 Swine Flu Virus. The Hemopurifier(R) is the first-in-class medical device to selectively adsorb viruses and immunosuppressive toxins from the bloodstream.

10 Aug 2009

Cost-effectiveness of Cetuximab in metastatic colorectal cancer

From a health-care system perspective, it may be more efficient to use the drug cetuximab only in colorectal cancer patients whose tumors have a wild-type KRAS gene, according to a study published online August 7 in the Journal of the National Cancer Institute.

9 Aug 2009

Scientists discover link between mutations in INPP5E gene and ciliopathies

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies. Their findings, which may lead to new therapies for these diseases, will appear in the online edition of Nature Genetics on August 9.

9 Aug 2009

Changes in mtDNA can cause premature ageing

The normal ageing process has long been linked to problems with cell respiration, the process through which the cells extract energy from nutrients. Researchers at the Swedish medical university Karolinska Institutet have now shown how certain proteins that are synthesised in the cellular mitochondria - popularly known as the cells' power plants - become unstable and disintegrate, which in turn can impair cell respiration and cause premature ageing.

7 Aug 2009

Soliris (Eculizumab) granted orphan drug designation in Europe and U.S. for atypical hemolytic uremic syndrome

Alexion Pharmaceuticals, Inc. has announced today that Soliris® (eculizumab), its first-in-class complement inhibitor, has been granted Orphan Medicinal Product Designation by the European Commission for the treatment of patients with atypical Hemolytic Uremic Syndrome (aHUS). AHUS is an ultra-rare, inherited, and life-threatening complement-inhibitor deficiency disease that often progresses to end-stage kidney disease or failure. The U.S. Food and Drug Administration granted orphan drug designation to Soliris for the same indication in May 2009. Soliris is not approved for the treatment of patients with aHUS.

6 Aug 2009

Discovery of possible mechanisms to protect against genetic alterations, diseases

Peering into the DNA of tiny yeast, researchers at the Moores Cancer Center at the University of California, San Diego and the San Diego Branch of the Ludwig Institute for Cancer Research have pinpointed a large number of genes that can prevent a type of genetic rearrangement that may lead to cancer and other diseases.

6 Aug 2009

Genetic profiling of tumors could have 'immediate impact' on treating cancer

New work by MIT cancer biologists shows that the interplay between two key genes that are often defective in tumors determines how cancer cells respond to chemotherapy.

6 Aug 2009

HIV genome decoded

"Researchers at the University of North Carolina at Chapel Hill have decoded the entire HIV genome, opening the door to understanding how viruses infect humans – knowledge that could lead to new antiviral drugs," the Triangle Business Journal reports. The building block of HIV is a single stranded RNA, not a double stranded DNA (Gallagher, 8/6).

6 Aug 2009

Colon cancer may yield to cellular sugar starvation

Scientists at the Johns Hopkins Kimmel Cancer Center have discovered how two cancer-promoting genes enhance a tumor's capacity to grow and survive under conditions where normal cells die.

6 Aug 2009

Unstable proteins can cause premature ageing

The normal ageing process has long been linked to problems with cell respiration, the process through which the cells extract energy from nutrients.

6 Aug 2009

Many women at high risk for breast or ovarian cancer choose surgery as a precautionary measure

Many women at high risk for breast or ovarian cancer are choosing to undergo surgery as a precautionary measure to decrease their cancer risk, according to a report in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research.

6 Aug 2009

Research looks at enzyme that causes genetic diseases

Researchers from CIC bioGUNE's Structural Biology Unit and Columbia University (New York) have conducted a joint research project, published in the prestigious scientific journal Structure, to gain in-depth knowledge of the structure of pyruvate carboxylase when it is in solution (in the "natural" state).

5 Aug 2009

Discovery of new gene mutations linked to leukemia

Decoding the complete DNA of cancer patients is giving scientists at Washington University School of Medicine in St. Louis a clearer picture of the complexity of the disease and allowing them to see intriguing and unexpected genetic relationships among patients.

5 Aug 2009

New discovery about dystonia

Most people who carry a genetic mutation for a movement disorder called dystonia will never develop symptoms, a phenomenon that has puzzled scientists since the first genetic mutation was identified in the 1990's.

5 Aug 2009

Structure of an entire HIV genome decoded

The structure of an entire HIV genome has been decoded for the first time by researchers at the University of North Carolina at Chapel Hill. The results have widespread implications for understanding the strategies that viruses, like the one that causes AIDS, use to infect humans.

5 Aug 2009