Mutation News and Research

RSS

Patients with multiple colorectal adenomas may carry germline mutations in APC or MUTYH genes

Among patients with multiple colorectal polyps, the prevalence of certain gene mutations varied considerably by polyp count, according to a study in the August 1 issue of JAMA.

1 Aug 2012

Link between skeletal development and Fraser syndrome deafness in mammals

Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans.

1 Aug 2012

Gene discovery made for infant-onset blindness

Researchers have discovered that mutations in the NMNAT1 gene encoding nicotinamide mononucleotide adenylyltransferase 1 are present in patients with Leber congenital amaurosis.

1 Aug 2012

ART resistance increasing in sub-Saharan Africa

The prevalence of antiretroviral drug resistance is on the rise in sub-Saharan Africa, an increase driven by resistance to non-nucleoside reverse transcriptase inhibitors in east and southern Africa, research shows.

1 Aug 2012

Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise to a particularly extreme version of dwarfism, small brain size, and other manifestations of abnormal growth which generally characterize that rare condition.

1 Aug 2012

Chk1 gene alone is sufficient to kill cancer cells

Researchers at Case Western Reserve University School of Medicine have discovered a mutant form of the gene, Chk1, that when expressed in cancer cells, permanently stopped their proliferation and caused cell death without the addition of any chemotherapeutic drugs.

1 Aug 2012

New drug may be useful in treating long QT syndrome

Johns Hopkins researchers have discovered a new drug that may be useful in treating a heart rhythm condition called long QT syndrome.

1 Aug 2012

NYGC purchases four Life Technologies' Ion Proton Sequencers

Life Technologies Corporation today announced that the New York Genome Center (NYGC) has purchased four Ion Proton Sequencers for its new Innovation Center.

31 Jul 2012

Population Genetics validates GenomePooling™ for cancer

Population Genetics Technologies Ltd., creator of innovative methods for genetic analyses and biomarker discovery, has successfully completed a pilot study to prove that its GenomePooling™ method is sensitive and accurate enough to detect even small percentages of gene variants within cancer tissue. This validates the method’s suitability for use in IntReALL 2010, the world’s largest genetic analysis of acute lymphoblastic leukaemia (ALL) relapse cases. ALL is the most common childhood malignant disease.

31 Jul 2012

GenomePooling™ method is sensitive and accurate

31 Jul 2012

Parkinson’s disease treatment: an interview with Ted Dawson

Parkinson’s disease is a disorder which usually affects people in their 60’s and older. It is caused by the loss of dopamine neurons in the brain leading to rigidity, slowness of movement, tremor, problems with balance and so forth.

31 Jul 2012

TAU researcher reveals link between plant and human biology

Increasingly, scientists are uncovering surprising biological connections between humans and other forms of life. Now a Tel Aviv University researcher has revealed that plant and human biology is much closer than has ever been understood - and the study of these similarities could uncover the biological basis of diseases like cancer as well as other "animal" behaviors.

31 Jul 2012

EPHA3 mutations may be important drivers of lung cancers

Vanderbilt-Ingram Cancer Center researchers have identified how one of the genes most commonly mutated in lung cancer may promote such tumors.

31 Jul 2012

ATP1A3 gene mutations responsible for alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a rare disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one side of the body, then the other. Symptoms mysteriously appear and disappear, again and again, and affected children often experience dozens of episodes per week. As they get older, children fall progressively behind their peers in both intellectual abilities and motor skills, and more than half develop epilepsy.

31 Jul 2012

New drug shows promise for Long QT syndrome

Long QT syndrome, which results from genetic mutation or certain medications, can cause the heart to beat chaotically and the affected person to die suddenly. The chaotic heartbeat is due to abnormal electrical activity in the heart. In an electrocardiogram test, this abnormality appears as a wider-than-normal QT interval, a pattern of "hills" in a map of peaks and valleys corresponding to the heart contracting and relaxing.

30 Jul 2012

Gene for sporadic paralysis of childhood discovered

Researchers have identified de novo mutations in the ATP1A3 gene that they believe are responsible for a sporadic childhood paralysis known as alternating hemiplegia of childhood.

30 Jul 2012

Study sheds light on complexities of cancer genetics

30 Jul 2012

Scientists identify new gene responsible for genetic form of blindness in newborns

One of the mysteries of blindness has been solved. A team of international scientists in collaboration with the Research Institute of the McGill University Health Centre (RI MUHC) identified a new gene responsible for Leber Congenital Amaurosis (LCA), a devastating genetic form of blindness in newborns.

30 Jul 2012

MCW, Transgenomic partner to offer next-generation genetic testing services

Transgenomic, Inc. and the Medical College of Wisconsin today announced a collaboration agreement under which Transgenomic will offer next-generation genetic testing services performed at the MCW Clinical Sequencing Program. These services will initially include Transgenomic's NuclearMitome Test for mitochondrial disorders.

30 Jul 2012

Fruit flies help pinpoint genetic changes that spell cancer

By studying fruit flies, scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have successfully devised a fast and cost-saving way to uncover genetic changes that have a higher potential to cause cancer. With this new approach, researchers will now be able to rapidly distinguish the range of genetic changes that are causally linked to cancer (i.e. "driver" mutations) versus those with limited impact on cancer progression.

30 Jul 2012