Mutation News and Research

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Researchers develop new treatment that extends telomeres

Will extending telomeres lead to longer, healthier lives? Researchers have taken an important step toward answering this question by developing a new treatment used in the laboratory that extends telomeres.

24 Jan 2015

PKC enzymes categorized as cancer promoters are actually tumor suppressors

Upending decades-old dogma, a team of scientists at the University of California, San Diego School of Medicine say enzymes long categorized as promoting cancer are, in fact, tumor suppressors and that current clinical efforts to develop inhibitor-based drugs should instead focus on restoring the enzymes' activities.

23 Jan 2015

New study links inflammatory bowel diseases to increase in diversity of viruses

Inflammatory bowel diseases are associated with a decrease in the diversity of bacteria in the gut, but a new study led by researchers at Washington University School of Medicine in St. Louis has linked the same illnesses to an increase in the diversity of viruses.

23 Jan 2015

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

23 Jan 2015

Cleveland Clinic researcher awarded grant to advance treatment of lethal prostate cancer

The Prostate Cancer Foundation has presented Nima Sharifi, M.D., Kendrick Family Endowed Chair for Prostate Cancer Research at Cleveland Clinic's Lerner Research Institute, a Challenge Award to advance the treatment of lethal prostate cancer. He is also co-investigator on a second Challenge Award that was also selected for funding.

23 Jan 2015

Study identifies gene that may become resistant to current testicular cancer treatments

A major research study has uncovered several new genetic mutations that could drive testicular cancer - and also identified a gene which may contribute to tumours becoming resistant to current treatments.

22 Jan 2015

Researchers reveal role of epigenetic factors in malignant skin cancer

Melanoma, the most aggressive of all skin cancer strains, is often fatal for patients due to the pronounced formation of metastases. Until now, a melanoma's rampant growth was mainly attributed to genetic causes, such as mutations in certain genes. However, researchers from the University of Zurich now reveal that so-called epigenetic factors play a role in the formation of metastases in malignant skin cancer. This opens up new possibilities for future cancer treatments.

22 Jan 2015

Cornell scientists develop new computational method to identify functional human genome

Striving to unravel and comprehend DNA's biological significance, Cornell University scientists have created a new computational method that can identify positions in the human genome that play a role in the proper functioning of cells, according to a report published Jan. 19 in the journal Nature Genetics.

22 Jan 2015

ENIGMA scientists discover eight genetic mutations that may erode or boost brain tissue

In the largest collaborative study of the brain to date, researchers from the Keck School of Medicine of the University of Southern California led a global consortium of 190 institutions to identify eight common genetic mutations that appear to age the brain an average of three years. The discovery could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions.

22 Jan 2015

Personalized approaches to treating intellectual disability

Scientists from the Florida campus of The Scripps Research Institute have produced an approach that protects animal models against a type of genetic disruption that causes intellectual disability, including serious memory impairments and altered anxiety levels.

22 Jan 2015

Penn, Spark Therapeutics expand strategic relationship to develop treatment for progressive blindness

The University of Pennsylvania has announced an expanded relationship with Spark Therapeutics, a late-stage gene therapy company developing treatments for debilitating, genetic diseases.

21 Jan 2015

Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors. Now, for the first time, researchers at Penn's Abramson Cancer Center have found that the same mutated gene may serve as a much-needed biomarker for the pheochromocytomas and paragangliomas (PCC/PGL) that become malignant.

21 Jan 2015

Trovagene, Genomac Research Institute to expand clinical collaboration

Trovagene, Inc., today announced it will expand the clinical collaboration with Genomac Research Institute in Prague, Czech Republic. Trovagene Precision Cancer Monitoring SM technology will be used in two prospective clinical studies for the early detection of emerging oncogene mutations indicative of resistance to targeted therapies used to treat colorectal and lung cancer.

21 Jan 2015

Changes in current Ebola virus epidemic could potentially interfere with experimental treatments

Researchers have tracked the genetic mutations that have occurred in the Ebola virus during the last four decades. Their findings, published in mBio, the online open-access journal of the American Society for Microbiology, identified changes in the current West African outbreak strain that could potentially interfere with experimental, sequence-based therapeutics.

21 Jan 2015

Understanding heart mutations that cause sudden cardiac arrest

New biosciences research at the University of Kent could point the way to greater understanding of the heart mutations that cause sudden cardiac arrest.

20 Jan 2015

Rare, complex EGFR mutations adversely affect EGFR–TKI treatment outcomes

Individuals with advanced non-small-cell lung cancer who have rare or complex epidermal growth factor receptor mutations have inferior outcomes in response to EGFR–tyrosine kinase inhibitor treatment compared with those with common mutations, research indicates.

20 Jan 2015

Kinex Pharmaceuticals doses first actinic keratosis patient with KX2-391 ointment

Kinex Pharmaceuticals announced today that the first actinic keratosis patient has been dosed with KX2-391 ointment in Austin, Texas.

20 Jan 2015

Johnson & Johnson announces sales of $18.3 billion for Q4 2014

Johnson & Johnson today announced sales of $18.3 billion for the fourth quarter of 2014, a decrease of 0.6% as compared to the fourth quarter of 2013. Operational results increased 3.9% and the negative impact of currency was 4.5%. Domestic sales increased 7.4%.

20 Jan 2015

Study unveils genetic architecture that enables parasite to develop antimalarial drug resistance

The largest genome-wide association study to date of the malaria parasite Plasmodium falciparum unveils a complex genetic architecture that enables the parasite to develop resistance to our most effective antimalarial drug, artemisinin. The results could help to improve early detection of emerging artemisinin resistance.

20 Jan 2015

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Mutation News and Research

Researchers develop new treatment that extends telomeres

PKC enzymes categorized as cancer promoters are actually tumor suppressors

New study links inflammatory bowel diseases to increase in diversity of viruses

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

Cleveland Clinic researcher awarded grant to advance treatment of lethal prostate cancer

Study identifies gene that may become resistant to current testicular cancer treatments

Researchers reveal role of epigenetic factors in malignant skin cancer

Cornell scientists develop new computational method to identify functional human genome

ENIGMA scientists discover eight genetic mutations that may erode or boost brain tissue

Personalized approaches to treating intellectual disability

Penn, Spark Therapeutics expand strategic relationship to develop treatment for progressive blindness

Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

Trovagene, Genomac Research Institute to expand clinical collaboration

Changes in current Ebola virus epidemic could potentially interfere with experimental treatments

Understanding heart mutations that cause sudden cardiac arrest

Rare, complex EGFR mutations adversely affect EGFR–TKI treatment outcomes

Kinex Pharmaceuticals doses first actinic keratosis patient with KX2-391 ointment

Johnson & Johnson announces sales of $18.3 billion for Q4 2014

Study unveils genetic architecture that enables parasite to develop antimalarial drug resistance

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Industry Focus eBook - Cell biology (5th edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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