Mutation News and Research

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Epilepsy may arise from complex mixture of altered ion channels

Imagine two flat screen televisions tuned to the same channel and sitting side-by-side. From a distance, their pictures are virtually the same, however up close, you can see subtle variations in the pixels - one blurred here, another dropped out there.

24 Jun 2011

Evolutionary-management strategies to limit spread of drug-resistant diseases

In the war between drugs and drug-resistant diseases, is the current strategy for medicating patients giving many drug-resistant diseases a big competitive advantage?, asks a research paper that will be published in the Proceedings of the National Academy of Sciences.

24 Jun 2011

RIKEN researchers reveal mechanism for stress-induced epigenetic change

Researchers at RIKEN have uncovered a mechanism by which the effects of stress in the fly species Drosophila are inherited epigenetically over many generations through changes to the structure of chromatin, the material that makes up the cell nucleus.

24 Jun 2011

Study traces precursor of deadly esophageal cancers to leftover embryonic cells

The ultimate source of some cancers is embryonic cells. Research published in the June 24th Cell, a Cell Press publication, traces the precursor of deadly esophageal cancers to leftover embryonic cells found in all adults.

24 Jun 2011

Growth-braking tumor-suppressor gene slows growth of childhood brain tumors

Johns Hopkins researchers have found a likely explanation for the slow growth of the most common childhood brain tumor, pilocytic astrocytoma. Using tests on a new cell-based model of the tumor, they concluded that the initial process of tumor formation switches on a growth-braking tumor-suppressor gene, in a process similar to that seen in skin moles.

24 Jun 2011

Patients with familial adenomatous polyposis have higher vascular density in mouth

A team led by Johns Hopkins researchers has found that a hereditary colon cancer syndrome, familial adenomatous polyposis (FAP), is associated with abnormally dense blood vessel growth in the skin lining the mouth.

24 Jun 2011

New VAAST software tool can identify disease-causing mutations in rare genetic disorders

Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals.

24 Jun 2011

Adeona enters agreement to begin proprietary zinc-based therapy Phase IIb trial in ALS

Adeona Pharmaceuticals, Inc., a developer of innovative medicines for serious central nervous system diseases, announced today that it has expanded its pipeline of proprietary zinc-based therapies to include a planned Phase IIb clinical trial of patients suffering from amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease.

24 Jun 2011

CBMi creates iPad app for exploring human genomic information

Navigating the human genome with software that you can view on an iPad® sounds pretty impressive, until perhaps you reflect that nature has already encoded trillions of copies of this in your chromosomes. Then again, printing that data using ink and paper would produce a mind-staggering pile of pages—so viewing it on an iPad® may be impressive after all.

24 Jun 2011

Veredus Labs develops ‘Lab-on-Chip’ to detect and differentiate several food-borne pathogens, including Escherichia coli

Veredus Laboratories, a leading provider of molecular detection tests, and its technology partner, STMicroelectronics (NYSE: STM), today announced the successful development and deployment of VereFoodborne™, a Lab-on-Chip application that is able to detect 10 to 12 food-borne pathogens in one test, including the Shiga toxin-producing Escherichia coli (E. coli) responsible for the recent severe food poisoning outbreak in Europe.

23 Jun 2011

Veredus Lab-on-Chip application can diagnose and differentiate food-borne pathogens

Veredus Laboratories, a leading provider of molecular detection tests, and its technology partner, STMicroelectronics, today announced the successful development and deployment of VereFoodborne, a Lab-on-Chip application that is able to detect 10 to 12 food-borne pathogens in one test, including the Shiga toxin-producing Escherichia coli responsible for the recent severe food poisoning outbreak in Europe.

23 Jun 2011

Unraveling molecular dysfunction due to environmental toxin exposure

In a new article published in the journal Molecular Neurodegeneration, researchers at the University of Missouri School of Medicine take some of the first steps toward unraveling the molecular dysfunction that occurs when proteins are exposed to environmental toxins. Their discovery helps further explain recent NIH findings that demonstrate the link between Parkinson's disease and two particular pesticides - rotenone and paraquat.

23 Jun 2011

New genetic research holds promise for patients with Chuvash polycythemia

New research conducted at UNC Lineberger Comprehensive Cancer Center, offers hope for people with a rare disorder called Chuvash polycythemia.

23 Jun 2011

Experts to focus on Shwachman-Diamond Syndrome at New York Academy of Sciences conference

On June 28-30, 2011, the New York Academy of Sciences will bring together scientists and clinicians from a wide range of subspecialties, in addition to patients and caregivers, to discuss the most important recent advances in our understanding of the clinical features, management, and treatment of Shwachman-Diamond Syndrome (SDS)-a rare disorder involving multiple organ systems and affecting children and young adults.

23 Jun 2011

Key trigger to rare but deadly neurodegenerative disease

Jeremy Smith, Governor's Chair for Molecular Biophysics at the University of Tennessee, Knoxville, has helped reveal a key trigger of Gerstmann-Str-ussler-Scheinker (GSS) syndrome, a rare but deadly neurodegenerative disease. The finding could have far-reaching implications for the treatment of other neurodegenerative diseases such as Alzheimer's, Huntington's, and Parkinson's.

23 Jun 2011

Researchers identify natural mechanism linked with Huntington's disease

Johns Hopkins researchers have identified a natural mechanism that might one day be used to block the expression of the mutated gene known to cause Huntington's disease.

22 Jun 2011

Twelve institutions receive NPCRC and American Cancer Society grants for palliative care research

The American Cancer Society and the National Palliative Care Research Center (NPCRC) are awarding $2 million in research grants to researchers at 12 institutions for studies aimed at reducing suffering for seriously ill patients and their family caregivers.

22 Jun 2011

Researchers identify potential cause of hereditary, progressive blindness

Medics at the RUB have found the cause of hereditary, progressive blindness: they have identified the previously unknown protein CCDC66, the loss of which initially leads to night blindness and in due course usually results in complete blindness.

22 Jun 2011

Nine young clinical investigators earn recognition from Damon Runyon Cancer Research Foundation

The Damon Runyon Cancer Research Foundation named five new Damon Runyon Clinical Investigators at its spring 2011 Clinical Investigator Award Committee review.

22 Jun 2011

Genetic mutation linked to peripartum cardiomyopathy during pregnancy

Researchers at the Intermountain Medical Center Heart Institute in Salt Lake City have identified the first genetic mutation ever associated with a mysterious and potentially devastating form of heart disease that affects women in the final weeks of pregnancy or the first few months after delivery.

22 Jun 2011

Mutation News and Research

Epilepsy may arise from complex mixture of altered ion channels

Evolutionary-management strategies to limit spread of drug-resistant diseases

RIKEN researchers reveal mechanism for stress-induced epigenetic change

Study traces precursor of deadly esophageal cancers to leftover embryonic cells

Growth-braking tumor-suppressor gene slows growth of childhood brain tumors

Patients with familial adenomatous polyposis have higher vascular density in mouth

New VAAST software tool can identify disease-causing mutations in rare genetic disorders

Adeona enters agreement to begin proprietary zinc-based therapy Phase IIb trial in ALS

CBMi creates iPad app for exploring human genomic information

Veredus Labs develops ‘Lab-on-Chip’ to detect and differentiate several food-borne pathogens, including Escherichia coli

Veredus Lab-on-Chip application can diagnose and differentiate food-borne pathogens

Unraveling molecular dysfunction due to environmental toxin exposure

New genetic research holds promise for patients with Chuvash polycythemia

Experts to focus on Shwachman-Diamond Syndrome at New York Academy of Sciences conference

Key trigger to rare but deadly neurodegenerative disease

Researchers identify natural mechanism linked with Huntington's disease

Twelve institutions receive NPCRC and American Cancer Society grants for palliative care research

Researchers identify potential cause of hereditary, progressive blindness

Nine young clinical investigators earn recognition from Damon Runyon Cancer Research Foundation

Genetic mutation linked to peripartum cardiomyopathy during pregnancy

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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