Genetics News and Research

Latest Genetics News and Research

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

Australia's top medical researchers for 2012 announced

Finalists for one of Australia’s longest running and most prestigious awards for medical research were announced today. This year’s winner will join a list of alumni winners that includes many of the country’s most respected scientists.

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

Mapping rhomboid enzymes could eventually lead to drugs to treat malaria

Johns Hopkins scientists have decoded for the first time the "stability blueprint" of an enzyme that resides in a cell's membrane, mapping which parts of the enzyme are important for its shape and function.

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

Researchers identify new genetic target for diuretic therapy

Researchers at the University of Cincinnati (UC) have identified a new genetic target for diuretic therapy in patients with fluid overload-like those with congestive heart failure, liver cirrhosis or kidney failure.

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

Researchers discover gene mutations in patients with alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis.

30 Jul 2012

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1.

30 Jul 2012

Research roundup: Slowdown in medical imaging; Hospitals' efforts mixed on reducing readmissions

Recent research showed a slowdown in the use of medical imaging for people enrolled in Medicare. This article follows up and finds that annual imaging growth slowed down from an average of 14 percent between 2000 and 2005 to 2.6 percent between 2006 and 2009. An analysis of commercial insurance claims shows a similar trend outside of Medicare. Based on

28 Jul 2012

PedBrain Tumor network publishes evaluation of first 125 genome analyses of medulloblastomas

Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer from the stressful treatment which can be harmful to the developing brain. The most common childhood brain tumors are medulloblastoma and pylocytic astrocytoma.

27 Jul 2012

University of York researchers launch major study of lymphoma and myeloma

Researchers at the University of York are launching a major study of lymphoma and myeloma aimed at promoting earlier diagnosis and improving survival for patients with these cancers, which are among the most common in the UK.

27 Jul 2012