Mutation News and Research

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Research unmasks long sought stem cell origin of carcinoma

A constellation of different stem cell populations within our skin help it to cope with normal wear and tear. By constantly proliferating, the stem cells allow skin to replenish itself, allowing each cell to be replaced by a new one about once a month. But the normal cycle of division and death within one or more of these stem cell types can sometimes be derailed by genetic mishaps. Such events are believed to spawn carcinomas and other deadly skin cancers, which are the mostly frequently diagnosed cancers in the United States.

4 Feb 2011

Scientists reprogram marrow cells from patient with chronic myeloid leukemia

By coaxing healthy and diseased human bone marrow to become embryonic-like stem cells, a team of Wisconsin scientists has laid the groundwork for observing the onset of the blood cancer leukemia in the laboratory dish.

4 Feb 2011

UM researchers find genetic cause of retinitis pigmentosa

Researchers led by geneticists at the University of Miami Miller School of Medicine have identified a new gene that causes retinitis pigmentosa, a form of blindness, ending one South Florida family's nearly 20-year search for what caused three of their four children to lose their sight.

4 Feb 2011

New study provides insight into mechanism behind breast cancer mutation

A new study sheds light on why individuals who inherit a particular family of mutations have a high risk of developing a very aggressive form of breast cancer. The research, published by Cell Press on February 4th in the journal Cell Stem Cell, shows that breast tissue cells from these individuals make abnormal cell-fate decisions even before cancer develops and provides exciting new insights into the mechanisms behind one of the most lethal types of breast cancer.

4 Feb 2011

Rare new disease identified – calcium accumulates in blood vessels

A new rare disease has been identified. Louise Benge’s started having difficulty in walking when she was 25. She developed hardening and pain over her calves and hands. She worsened over the next 20 years. Her family physician in Mount Vernon, Ky., was at a loss, as were a vascular specialist, a hand specialist and a kidney specialist. Her two sisters and two brothers had the problem too, but no doctor could understand why.

3 Feb 2011

Study reveals how MMSET gene enables disease-causing mutations to occur

For several decades, researchers have been linking genetic mutations to diseases ranging from cancer to developmental abnormalities. What hasn't been clear, however, is how the body's genome sustains such destructive glitches in the first place.

3 Feb 2011

HMORN, iSAEC collaborate to enroll subjects in SAE research project using EMR database

The International Serious Adverse Events Consortium announced today a new collaboration with the HMO Research Network to enroll subjects in research to identify genetic markers that may help predict risk associated with a range of serious drug-related adverse events.

3 Feb 2011

International scientist team identifies gene mutation strongly linked to schizophrenia

In a major advance for schizophrenia research, an international team of scientists, led by Jonathan Sebat, PhD, assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego School of Medicine, has identified a gene mutation strongly linked to the brain disorder - and a signaling pathway that may be treatable with existing compounds.

3 Feb 2011

DNAnexus announces new cloud-based tools for analyzing large-scale genomic variation datasets

DNAnexus, Inc., a leading provider of cloud-based solutions for analyzing, visualizing, and managing next-generation sequencing data, today announced the availability of a comprehensive set of new informatics tools that enable life science researchers to efficiently analyze and manage large-scale genomic variation datasets in a cloud-based workflow.

3 Feb 2011

Cedars-Sinai receives California Institute grant to develop new technique for specific diseases

A team of scientists from the Cedars-Sinai Regenerative Medicine Institute has been awarded a $1.9 million grant from the California Institute for Regenerative Medicine to fund development of a new technique to aid pharmaceutical discoveries for specific diseases.

3 Feb 2011

Agilent introduces first commercial RNA target enrichment system

Agilent Technologies, Inc., today introduced SureSelect RNA Capture Kits, the first commercial RNA target enrichment system enabling geneticists to focus on specific genomic loci or transcripts of research interest. The RNA capture kits make it possible to precisely measure expression levels of genes of interest and detect allelic-specific expression, splicing events and gene fusions.

3 Feb 2011

Five young scientists receive Damon Runyon-Rachleff Innovation Award for cancer research

The Damon Runyon Cancer Research Foundation announced that five scientists with novel approaches to fighting cancer have been named 2011 recipients of the Damon Runyon-Rachleff Innovation Award. The grant of $450,000 over three years is awarded each year to early career scientists whose projects have the potential to significantly impact the prevention, diagnosis and treatment of cancer.

2 Feb 2011

CDH first hospital in New England to use Xenex PX-UV disinfection system

Cooley Dickinson Hospital (CDH) today announced it is the first hospital in New England to use the Xenex PX-UV disinfection system to disinfect its patient and operating rooms.

2 Feb 2011

EA sponsors research grant to investigate specific cancers and kinase mutations

Expression Analysis today announced a jointly sponsored research grant for up to eight American Cancer Society Grantees to investigate and draw parallels between specific cancers and recurring mutations in specific kinases, using targeted genome sequencing.

2 Feb 2011

Fluidigm launches new BioMark HD Real-time PCR System for genomic analysis

Fluidigm today introduced the new BioMark HD Real-time PCR System, the company's most advanced instrument for genomic analysis ever. The BioMark HD System is designed for researchers who require the sensitivity and throughput needed to study gene expression down to the single-cell level -- especially those who have limited amounts of sample or study rare populations of cells.

1 Feb 2011

AstraZeneca and Pfizer support Cancer Research UK in £5.5m Stratified Medicine programme

CANCER RESEARCH UK will be supported by AstraZeneca and Pfizer in a multimillion pound initiative to examine how genetic tests to improve cancer diagnosis can be best rolled out across the NHS.

1 Feb 2011

IASLC publishes new international multidisciplinary classification for lung adenocarcinoma

Three of the world's top lung associations have published a new international multidisciplinary classification of lung adenocarcinoma, the first revision to the classification in six years.

1 Feb 2011

Lifestyle more closely linked with childhood obesity, than genetics

Are some children genetically tuned to be overweight, or is lifestyle to blame for childhood obesity?

1 Feb 2011

New nicotine addiction mechanism revealed

A new discovery has shown why some people cannot give up tobacco and may lead to new anti-smoking treatments. The researchers have found a brain pathway which when defective leads to an uncontrollable desire to smoke. This is a “sub-unit” of a receptor protein sensitive to nicotine.

31 Jan 2011

EU grants 3.3 million to AMP for gene therapy development against AIP

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, announced today that the European Union has finalized a EUR 3.3 million grant to the AIPGENE consortium, of which AMT is a member, for the development of a gene therapy product for Acute Intermittent Porphyria.

31 Jan 2011