Mutation News and Research

RSS

Northwestern University scientists identify gene important to morning wake-up call

Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.

17 May 2013

New GWA can pose major ethical problems if used incorrectly, say ESHG recommendations

The use of genome-wide analysis, where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease.

17 May 2013

Transgenomic launches new mutation detection test for patients with metastatic colorectal cancer

Transgenomic, Inc. today announced the global, commercial availability of CRC RAScan, a new mutation detection test to screen patients with metastatic colorectal cancer for RAS mutations (KRAS and NRAS).

16 May 2013

Scientists reveal inside story of European regulatory review and approval of Glybera

The scientists who led the team that developed Glybera, the first gene therapy drug approved for use in the Western world, provide a fascinating first-person account of their pioneering work in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

16 May 2013

Viewpoints: Controversy taints IRS efforts on health law; Another chance to 'gut' the overhaul in the courts; Salt wrongly accused

Even as the politicized tax enforcement scandal expands, the Internal Revenue Service continues to expand its political powers thanks to the Affordable Care Act. A larger government always creates more openings for abuse, as Americans will learn when the IRS starts auditing their health care in addition to their 1040 next year (5/14).

16 May 2013

Mayo Clinic researchers complete world's first whole exome sequence of small intestine carcinoids

Researchers at Mayo Clinic have completed the world's first whole exome sequence of small intestine neuroendocrine tumors, also known to patients and physicians as carcinoids, the most common cancer of the small bowel and one that responds poorly to chemotherapy.

16 May 2013

Study underscores new paradigm in cancer therapy

In the largest clinical trial to date to examine the efficacy of PARP inhibitor therapy in BRCA 1/2 carriers with diseases other than breast and ovarian cancer, the oral drug olaparib was found to be effective against advanced pancreatic and prostate cancers.

16 May 2013

Angelina Jolie's choice underscores screening and treatment costs

News outlets report on the cost of and questions surrounding Angelina Jolie's decision to have genetic testing and then to undergo a double mastectomy as preventive surgery.

16 May 2013

Novel drug may increase the effectiveness of radiation therapy for brain cancer

A novel drug may help increase the effectiveness of radiation therapy for the most deadly form of brain cancer, report scientists at Virginia Commonwealth University Massey Cancer Center. In mouse models of human glioblastoma multiforme (GBM), the new drug helped significantly extend survival when used in combination with radiation therapy.

15 May 2013

Search, Share, Spare campaign to raise awareness about breast cancer surgery options

Studies have shown nearly 70 percent of patients with breast cancer do not discuss all surgical options with their surgeon before their initial surgery and that such a discussion significantly affects a woman's treatment decision.

15 May 2013

UAB genetics and breast cancer experts respond to Angelina Jolie's preventive mastectomy

Hollywood actress Angelina Jolie, who has one of the genes linked to breast cancer, revealed that she underwent a double mastectomy earlier this year to prevent following in the footsteps of her mother and succumbing to breast cancer.

15 May 2013

New study reveals another duet played by Notch and BMP signals

A small ensemble of musicians can produce an infinite number of melodies, harmonies and rhythms. So too, do a handful of workhorse signaling pathways that interact to construct multiple structures that comprise the vertebrate body.

15 May 2013

Viewpoints: Angelina Jolie on her decision to have a double mastectomy; Justice Ginsburg's 'blind spot' on abortion

My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman. Only a fraction of breast cancers result from an inherited gene mutation. Those with a defect in BRCA1 have a 65 percent risk of getting it, on average. Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could. I made a decision to have a preventive double mastectomy. I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex (Angelina Jolie, 5/14).

15 May 2013

Findings could help develop new approaches to treat depression and memory loss in the elderly

Scientists have known for some time that exercise induces neurogenesis in a specific brain region, the hippocampus. However, until this study, the underlying mechanism was not fully understood.

14 May 2013

Inhibiting powerful protein with new agents may supply broad benefit for lymphoma patients

A soon-to-be-tested class of drug inhibitors were predicted to help a limited number of patients with B-cell lymphomas with mutations affecting the EZH2 protein.

14 May 2013

Researchers identify microRNA-155 as prognostic marker, treatment target in patients with AML

A study has identified microRNA-155 as a new independent prognostic marker and treatment target in patients with acute myeloid leukemia that has normal-looking chromosomes under the microscope (that is, cytogenetically normal acute myeloid leukemia, or CN-AML).

14 May 2013

First Edition: May 13, 2013

Today's headlines include reports that Health and Human Services Secretary Kathleen Sebelius has been seeking out funds from private sources to support efforts to publicize the health law.

13 May 2013

Research on total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection, one type of "blue baby" syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don't connect normally to the left atrium of the heart.

13 May 2013

New MIT study reveals that H3N2 strains could pose a risk to humans

In the summer of 1968, a new strain of influenza appeared in Hong Kong. This strain, known as H3N2, spread around the globe and eventually killed an estimated 1 million people.

13 May 2013

New research shows that spontaneous mutations contribute to congenital heart disease

Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don't understand what causes them or how to prevent them. New research shows that about 10 percent of these defects are caused by genetic mutations that are absent in the parents of affected children.

13 May 2013

Mutation News and Research

Northwestern University scientists identify gene important to morning wake-up call

New GWA can pose major ethical problems if used incorrectly, say ESHG recommendations

Transgenomic launches new mutation detection test for patients with metastatic colorectal cancer

Scientists reveal inside story of European regulatory review and approval of Glybera

Viewpoints: Controversy taints IRS efforts on health law; Another chance to 'gut' the overhaul in the courts; Salt wrongly accused

Mayo Clinic researchers complete world's first whole exome sequence of small intestine carcinoids

Study underscores new paradigm in cancer therapy

Angelina Jolie's choice underscores screening and treatment costs

Novel drug may increase the effectiveness of radiation therapy for brain cancer

Search, Share, Spare campaign to raise awareness about breast cancer surgery options

UAB genetics and breast cancer experts respond to Angelina Jolie's preventive mastectomy

New study reveals another duet played by Notch and BMP signals

Viewpoints: Angelina Jolie on her decision to have a double mastectomy; Justice Ginsburg's 'blind spot' on abortion

Findings could help develop new approaches to treat depression and memory loss in the elderly

Inhibiting powerful protein with new agents may supply broad benefit for lymphoma patients

Researchers identify microRNA-155 as prognostic marker, treatment target in patients with AML

First Edition: May 13, 2013

Research on total anomalous pulmonary venous connection

New MIT study reveals that H3N2 strains could pose a risk to humans

New research shows that spontaneous mutations contribute to congenital heart disease

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News