Mutation News and Research

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Combination therapy effective in treating drug-resistant malaria

Resistance to artemisinin, the main drug to treat malaria, is now widespread throughout Southeast Asia, among the Plasmodium falciparum (P. falciparum) parasites that cause the disease and is likely caused by a genetic mutation in the parasites.

31 Jul 2014

No two single tumor cells in breast cancer patients have same genome

Just as no two people possess the same genetic makeup, a recent study has shown that no two single tumor cells in breast cancer patients have an identical genome.

31 Jul 2014

Obesity mutation MC4R can significantly contribute to weight gain at early age

People who have the most common genetic mutation linked to obesity respond differently to pictures of appetizing foods than overweight or obese people who do not have the genetic mutation, according to a new study published in the Endocrine Society's Journal of Clinical Endocrinology & Metabolism.

31 Jul 2014

Discovery could lead to development of new cancer therapies

DNA mutations-long known to fuel cancer as well as evolutionary changes in a living organism-had been thought to be rare events that occur randomly throughout the genome.

31 Jul 2014

Alterations to single gene could predict risk of suicide attempt

Johns Hopkins researchers say they have discovered a chemical alteration in a single human gene linked to stress reactions that, if confirmed in larger studies, could give doctors a simple blood test to reliably predict a person's risk of attempting suicide.

30 Jul 2014

Researchers investigate hereditary breast cancer to find new treatment approaches

Deborah Kelly and Zhi Sheng, assistant professors at the Virginia Tech Carilion Research Institute, recently received a grant from the Commonwealth Health Research Board to investigate hereditary breast cancer, an effort that may lead to new treatment approaches.

30 Jul 2014

Researchers find molecule that irreversibly interferes with activity of mutated cancer gene

UT Southwestern Medical Center cancer researchers have found a molecule that selectively and irreversibly interferes with the activity of a mutated cancer gene common in 30 percent of tumors.

29 Jul 2014

EMA CHMP adopts positive opinion for Janssen’s IMBRUVICA to treat CLL and MCL

Janssen-Cilag International NV announced today that the Committee for Medicinal Products for Human Use of the European Medicines Agency adopted a positive opinion recommending the granting of a marketing authorisation for IMBRUVICA (ibrutinib) in the European Union.

29 Jul 2014

Researchers identify porcine enterovirus G using next-generation sequencing

He calls himself the bug hunter, but the target of his work consists of viruses that can only be found and identified with special methods and instruments.

29 Jul 2014

Cancer researchers find molecule that irreversibly interferes with KRAS gene

UT Southwestern Medical Center cancer researchers have found a molecule that selectively and irreversibly interferes with the activity of a mutated cancer gene common in 30 percent of tumors.

29 Jul 2014

Research points to new direction for potential therapies to treat mucoepidermoid carcinoma

Research conducted at the Florida campus of The Scripps Research Institute has discovered links between a set of genes known to promote tumor growth and mucoepidermoid carcinoma, an oral cancer that affects the salivary glands. The discovery could help physicians develop new treatments that target the cancer's underlying genetic causes.

29 Jul 2014

Antifungal drug resistance evoked through RNAi-dependent epimutations

Microorganisms like bacteria and fungi can evade treatment by acquiring mutations in the genes targeted by antibiotics or antifungal drugs.

27 Jul 2014

GW researcher awarded SFARI grant for autism research

The link between autism and disrupted brain development is an essential part of the puzzle of the disease, and is largely unknown. However, thanks to funding from the Simons Foundation Autism Research Initiative, George Washington University researcher Anthony-Samuel LaMantia, Ph.D. may be able to offer truly integrative and in-depth answers to these key questions in the field of autism research.

26 Jul 2014

Molecular testing panel increases likelihood of performing correct surgery for thyroid cancer patients

The routine use of a molecular testing panel developed at UPMC greatly increases the likelihood of performing the correct initial surgery for patients with thyroid nodules and cancer, report researchers from the University of Pittsburgh Cancer Institute (UPCI), partner with UPMC CancerCenter.

26 Jul 2014

Epigenetic switch can cause cancer, shows study

Cancer has long been thought to be primarily a genetic disease, but in recent decades scientists have come to believe that epigenetic changes - which don't change the DNA sequence but how it is 'read' - also play a role in cancer.

26 Jul 2014

EMA recommends full marketing approval for IMBRUVICA in the European Union

Pharmacyclics, Inc. today announced that the Committee for Medicinal Products for Human Use of the European Medicines Agency issued a positive opinion recommending the granting of full marketing approval for IMBRUVICA (ibrutinib) in the European Union.

25 Jul 2014

Asia's first genetic test developed for identifying patients with corneal stromal dystrophy

A team of eye doctors and scientists from Singapore have developed Asia's first genetic test for identifying patients with a type of eye disease that affects the cornea called corneal stromal dystrophy which can lead to blurring and loss of vision.

25 Jul 2014

Deleting enzyme favorably impacts behaviors associated with autistic behaviors

Fragile X syndrome (FXS) is a genetic disorder that causes obsessive-compulsive and repetitive behaviors, and other behaviors on the autistic spectrum, as well as cognitive deficits. It is the most common inherited cause of mental impairment and the most common cause of autism.

24 Jul 2014

Researchers uncover how malaria parasite becomes resistant to fosmidomycin drug

Researchers have uncovered a way the malaria parasite becomes resistant to an investigational drug. The discovery, at Washington University School of Medicine in St. Louis, also is relevant for other infectious diseases including bacterial infections and tuberculosis.

24 Jul 2014

EKF Diagnostics to highlight expanding product portfolio at AACC Clinical Lab Expo

EKF, will be highlighting its expanding product portfolio on its subsidiary Stanbio Laboratory’s booth #1933 at the AACC Clinical Lab Expo in Chicago, USA.

From EKF Diagnostics 24 Jul 2014