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Study describes molecular bases of resistance to new chemotherapeutic agent in familial breast and ovarian cancers

It is estimated that between 5% and 10% of breast and ovarian cancers are familial in origin, which is to say that these tumours are attributable to inherited mutations from the parents in genes such as BRCA1 or BRCA2.

19 Jun 2013

Aspirin slows accumulation of DNA mutations in abnormal cells, points UCSF scientist

Aspirin is known to lower risk for some cancers, and a new study led by a UC San Francisco scientist points to a possible explanation, with the discovery that aspirin slows the accumulation of DNA mutations in abnormal cells in at least one pre-cancerous condition.

19 Jun 2013

UCSC experts awarded $3.5M NIH grant to develop cancer genomics tools

Despite some successes, predicting cancer outcomes based on the molecular signatures in cancer cells remains a major challenge. A new effort, funded by the National Cancer Institute and led by researchers at the University of California, Santa Cruz, aims to clear several key roadblocks that have stymied progress in this field.

18 Jun 2013

Genomic instability in new molecular pathway may predict worse outcomes in breast cancer patients

A new molecular pathway involving the gene ZNF365 has been identified and abnormalities in that pathway may predict worse outcomes for patients with breast cancer, according to data published in Cancer Discovery, a journal of the American Association for Cancer Research.

18 Jun 2013

MGH researchers discover CNVs in members of 10 families with early-onset Alzheimer's

Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes - the amyloid precursor protein and presenilins 1 and 2 - have been established as causative for inherited, early-onset Alzheimer's, accounting for about half of such cases.

18 Jun 2013

Researchers use patient-specific stem cells to correct deficient insulin-producing cells

A team from the New York Stem Cell Foundation Research Institute and the Naomi Berrie Diabetes Center of Columbia University has generated patient-specific beta cells, or insulin-producing cells, that accurately reflect the features of maturity-onset diabetes of the young.

18 Jun 2013

New study identifies possible treatment to block deposition of calcium in arterial wall

HGPS is a rare genetic disease that affects one in every 4-8 million births. The disease is caused by a spontaneous mutation in one of the two copies (alleles) of the gene LMNA, which codes for lamin A, a protein important for the integrity and function of the envelope surrounding the cell nucleus. The mutation causes incorrect processing of the messenger RNA for lamin proteins, resulting in the synthesis of an anomalous protein, called progerin.

18 Jun 2013

Pyrvinium pamoate inhibits drug-resistant prostate cancer

A new drug called pyrvinium pamoate inhibits aggressive forms of prostate cancer that are resistant to standard drugs, according to a study conducted in an animal model. The results will be presented Monday at The Endocrine Society's 95th Annual Meeting in San Francisco.

18 Jun 2013

Study: Male mice fed with high-fat diet are more likely to father offspring with higher levels of body fat

Male mice who were fed a high-fat diet and became obese were more likely to father offspring who also had higher levels of body fat, a new Ohio University study finds.

17 Jun 2013

Scientists find that psychiatric disorders may be linked to protein involved in memory formation

Researchers have discovered a pathway by which the brain controls a molecule critical to forming long-term memories and connected with bipolar disorder and schizophrenia.

17 Jun 2013

Researchers identify genetic mutation responsible for MDP Syndrome

National Paracycling Champion Tom Staniford has an extremely rare condition which, until now, has puzzled his doctors. He is unable to store fat under his skin - yet has type 2 diabetes - and suffered hearing loss as a child. Now, thanks to advances in genome sequencing, an international research team led by the University of Exeter Medical School has identified Tom's condition and pinpointed the single genetic mutation that causes it.

17 Jun 2013

Pathway Genomics to provide genetic testing for BRCA gene linked to breast, ovarian cancers

Pathway Genomics led the evening news Friday with an announcement that it could begin offering affordable access to genetic testing for the BRCA gene linked to breast and ovarian cancers in the wake of a Supreme Court ruling that eliminated another company's monopoly on the test.

15 Jun 2013

New research finding raises questions about common mutant forms of JC polyomavirus

The JC polyomavirus is clearly opportunistic. It infects half the population but lethally destroys brain tissue only in immunocompromised patients - and it may be outright sneaky, too. Even as a new research paper allays fears that common mutant forms of the virus are the ones directly responsible for the disease's main attack, that same finding raises new questions about what the mutants are doing instead.

14 Jun 2013

Johns Hopkins scientists receive grants to research on genome-based test for cancer

An anonymous donor has given $500,000 to conduct large-scale clinical trials and laboratory research on the "PapGene" test, a genomic-based screening test that detects ovarian and endometrial cancers in cervical fluid.

14 Jun 2013

Supreme Court invalidates patents held by Myriad Genetics

The College of American Pathologists applauds today's unanimous Supreme Court decision invalidating the patents held by Myriad Genetics on the BRCA1 and BRCA2 genes. It is a victory for patients and for science.

14 Jun 2013

CSHL scientists solve the mystery of why some infants born with grave syndrome

By identifying a protein that acts as a genetic modifier, scientists at Cold Spring Harbor Laboratory have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC.

14 Jun 2013

Ambry Genetics introduces BRCA1 and BRCA2 analysis

Ambry Genetics announced today the launch of BRCA1 and BRCA2 analysis as part of their comprehensive cancer-testing menu. Two genes will be offered as a stand alone test comprising of full gene sequencing and deletion/duplication analyses in addition to being incorporated as part of multiple hereditary cancer panels that test cancer susceptibility genes using next-generation sequencing technology.

14 Jun 2013

Pathway Genomics announces launch of inherited cancer panel with BRCA1 and BRCA2

Pathway Genomics, a genetic testing laboratory on the forefront of bringing physicians a broad genetic testing portfolio covering a wide range of diseases, announces the pending launch of its inherited cancer panel with BRCA1 and BRCA2.

14 Jun 2013

Study provides new insight into how pyrazinamide works

Pyrazinamide (PZA)-a frontline tuberculosis drug-kills dormant persister bacteria and plays a critical role in shortening TB therapy. PZA is used for treating both drug susceptible and multi-drug resistant TB but resistance to PZA occurs frequently and can compromise treatment.

14 Jun 2013

TEDDY study enables scientists to parse genetic mutations associated with type 1 diabetes

Massive samples emanating from a decade-old, international initiative to determine how genetics and environment cause type 1 diabetes are giving scientists a unique perspective on which molecular and environmental factors really contribute to the disease.

14 Jun 2013

Mutation News and Research

Study describes molecular bases of resistance to new chemotherapeutic agent in familial breast and ovarian cancers

Aspirin slows accumulation of DNA mutations in abnormal cells, points UCSF scientist

UCSC experts awarded $3.5M NIH grant to develop cancer genomics tools

Genomic instability in new molecular pathway may predict worse outcomes in breast cancer patients

MGH researchers discover CNVs in members of 10 families with early-onset Alzheimer's

Researchers use patient-specific stem cells to correct deficient insulin-producing cells

New study identifies possible treatment to block deposition of calcium in arterial wall

Pyrvinium pamoate inhibits drug-resistant prostate cancer

Study: Male mice fed with high-fat diet are more likely to father offspring with higher levels of body fat

Scientists find that psychiatric disorders may be linked to protein involved in memory formation

Researchers identify genetic mutation responsible for MDP Syndrome

Pathway Genomics to provide genetic testing for BRCA gene linked to breast, ovarian cancers

New research finding raises questions about common mutant forms of JC polyomavirus

Johns Hopkins scientists receive grants to research on genome-based test for cancer

Supreme Court invalidates patents held by Myriad Genetics

CSHL scientists solve the mystery of why some infants born with grave syndrome

Ambry Genetics introduces BRCA1 and BRCA2 analysis

Pathway Genomics announces launch of inherited cancer panel with BRCA1 and BRCA2

Study provides new insight into how pyrazinamide works

TEDDY study enables scientists to parse genetic mutations associated with type 1 diabetes

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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