Mutation News and Research

RSS

FDA can promote personalized medicine by identying gaps in laboratory operations: ACLA

The Food and Drug Administration can promote progress toward personalized medicine by approaching the oversight of laboratory developed tests (LDTs) in a focused, flexible, and balanced way according to the American Clinical Laboratory Association (ACLA). ACLA, which represents the nation's leading clinical laboratories, says that the factors supporting this approach include the growing role that such tests play in clinical decision making, especially in the area of new advanced diagnostics that derive from the mapping of the human genome and help fulfill the promise of personalized medicine.

17 Jul 2010

Penn researchers reverse cognitive decline in fruit flies with Alzheimer's gene mutation

Investigators have found that fruit fly (Drosophila melanogaster) males -- in which the activity of an Alzheimer's disease protein is reduced by 50 percent -- show impairments in learning and memory as they age. What's more, the researchers were able to prevent the age-related deficits by treating the flies with drugs such as lithium, or by genetic manipulations that reduced nerve-cell signaling.

16 Jul 2010

Study results to help researchers better understand cancer genetics, improve treatment regimens

The largest study to correlate genetics with response to cancer drugs releases its first results today. The researchers behind the study, based at Massachusetts General Hospital Cancer Center and the Wellcome Trust Sanger Institute, describe in this initial dataset the responses of 350 cancer samples to 18 anticancer therapeutics.

16 Jul 2010

Scientists discover gene mutation responsible for CDG

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has discovered the gene mutation responsible for a condition in which eye and brain development is severely disrupted in affected infants.

16 Jul 2010

Study suggests chronic kidney disease affects persons of African, Hispanic heritage at higher rate

Chronic kidney disease affects millions in North America, with persons of African heritage being at a four-fold higher risk and those of Hispanic heritage having a two-fold higher risk compared to the rest of the population. An international study carried out by Dr. Karl Skorecki, from the Technion-Israel Institute of Technology and Rambam Medical Center in Haifa, and his team points to the APOL1 gene as involved in the increased risk of kidney disease in this high-risk population. The results are to be published online in Springer's journal Human Genetics.

15 Jul 2010

IBM dedicates $100 million for global initiative to improve healthcare quality and costs

IBM today announced plans to enlist some of the company's leading scientists and technologists to help medical practitioners and insurance companies provide high-quality, evidence-based care to patients. As part of this initiative, IBM is collaborating with clinicians in medical institutions and hiring medical doctors to work alongside its researchers to develop new technologies, scientific advancements and business processes for healthcare and insurance providers.

15 Jul 2010

New research focuses on calcium channels in lysosome membrane

In cells, as in cities, disposing of garbage and recycling anything that can be reused is an essential service. In both city and cell, health problems can arise when the process breaks down.

15 Jul 2010

IBM and Peking University People's Hospital build evidence-based patient centric care system

IBM and Peking University People's Hospital have built an evidence-based patient centric care (ePC3) system to enable cooperation and resource sharing among medical services providers for improved patient care.

15 Jul 2010

Research supports population screening for fragile X syndrome in women of reproductive age

There's adequate research data to support population screening of women of childbearing age for fragile X syndrome—the most common inherited cause of cognitive impairment, according to a report in the July issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

14 Jul 2010

Insight into inner functional mechanisms of new bacterial infection target

In any battle, sizing up one's opponent is a critical first step. For researchers fighting a bacterial infection, that means assessing every nook and cranny of the malicious microorganism and identifying which ones to attack.

14 Jul 2010

Life-or-death 'cell competition' process in mammalian tissue identified

A landmark study by Florida State University biologists, in collaboration with scientists in Britain, is the first to identify a life-or-death "cell competition" process in mammalian tissue that suppresses cancer by causing cancerous cells to kill themselves.

14 Jul 2010

ChemGenex agrees with FDA on potential regulatory path to progress OMAPRO for CML

ChemGenex Pharmaceuticals Limited announced today it has agreed with the U.S. Food and Drug Administration (FDA) on a potential regulatory path to progress OMAPRO™ (omacetaxine mepesuccinate) for the treatment of patients with Chronic Myeloid Leukemia (CML).

14 Jul 2010

Researchers discover single genetic mutation that accounts for disease

By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.

13 Jul 2010

Gene mutation that causes auditory neuropathy identified

Researchers have identified a gene mutation that causes a rare form of hearing loss known as auditory neuropathy, according to U-M Medical School scientists.

13 Jul 2010

Roche obtains global co-exclusive license for PI3K biomarker from QIAGEN

Roche announced today that the company has obtained a worldwide co-exclusive license for the biomarker PI3K (phosphoinositide 3-kinase) from QIAGEN to develop real-time and endpoint PCR diagnostic assays. Johns Hopkins University owns the patent for the PI3K biomarker and has previously granted an exclusive license to QIAGEN's wholly owned subsidiary DxS, now QIAGEN Manchester.

From QIAGEN Manchester Limited 13 Jul 2010

Stem cell transplantation from healthy donor helps cure aggressive form of CLL

The transplantation of stem cells from a healthy donor (allogeneic) offers the chance of cure for patients with an aggressive form of chronic lymphocytic leukemia (CLL), irrespective of genetic prognostic factors and the prior course of the disease. The German CLL Study Group proved this in a multicentric clinical phase II study led by Professor Dr. Peter Dreger, senior consultant and head of the division of stem cell transplantation at the Department of Internal Medicine V at Heidelberg University Hospital.

13 Jul 2010

GWAS suggests genetic variant with increased oncogene expression for cancer study

The study, published July 13th in Genome Research, showcases a new protocol for studying the activity of cancer-risk variants suggested by GWAS studies. The results also underscore the dramatic consequences of small genetic changes even in the vast stretches of DNA, known as "gene deserts," that do not code for proteins.

13 Jul 2010

Researchers discover gene mutation that causes auditory neuropathy

Researchers have identified a gene mutation that causes a rare form of hearing loss known as auditory neuropathy, according to U-M Medical School scientists. In the study published online today in the Proceedings of the National Academy of Sciences USA, U-M's Marci Lesperance, M.D., and Margit Burmeister, Ph.D. led a team of researchers who examined the DNA of individuals from the same large family afflicted with the disorder.

13 Jul 2010

Drosophila fly study may aid in staving off diseases in humans using defensive bacteria

It has been a basic principle of evolution for more than a century that plants and animals can adapt genetically in ways that help them better survive and reproduce.

12 Jul 2010

Discovery of antibodies that kill more than 90% of HIV viruses gives new hope for vaccine

"An effective vaccine against the AIDS virus may have moved one step closer to reality, researchers said Thursday," the Los Angeles Times reports. "Federal researchers have identified a pair of naturally occurring antibodies that are able to kill more than 90% of all strains of the AIDS virus, a finding they say could lead to the development of new treatments for HIV infections and to the production of the first successful vaccine against the virus" (Maugh, 7/9).

12 Jul 2010

Mutation News and Research

FDA can promote personalized medicine by identying gaps in laboratory operations: ACLA

Penn researchers reverse cognitive decline in fruit flies with Alzheimer's gene mutation

Study results to help researchers better understand cancer genetics, improve treatment regimens

Scientists discover gene mutation responsible for CDG

Study suggests chronic kidney disease affects persons of African, Hispanic heritage at higher rate

IBM dedicates $100 million for global initiative to improve healthcare quality and costs

New research focuses on calcium channels in lysosome membrane

IBM and Peking University People's Hospital build evidence-based patient centric care system

Research supports population screening for fragile X syndrome in women of reproductive age

Insight into inner functional mechanisms of new bacterial infection target

Life-or-death 'cell competition' process in mammalian tissue identified

ChemGenex agrees with FDA on potential regulatory path to progress OMAPRO for CML

Researchers discover single genetic mutation that accounts for disease

Gene mutation that causes auditory neuropathy identified

Roche obtains global co-exclusive license for PI3K biomarker from QIAGEN

Stem cell transplantation from healthy donor helps cure aggressive form of CLL

GWAS suggests genetic variant with increased oncogene expression for cancer study

Researchers discover gene mutation that causes auditory neuropathy

Drosophila fly study may aid in staving off diseases in humans using defensive bacteria

Discovery of antibodies that kill more than 90% of HIV viruses gives new hope for vaccine

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

Latest News