Genetic News and Research

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OrPro to advance development of ORP-100 for treatment of cystic fibrosis

OrPro Therapeutics, Inc. today announced that the company has been awarded a National Heart, Lung and Blood Institute Small Business Innovation Research (SBIR) grant from the National Institutes of Health (NIH).

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

Study identifies Olympic athletes with asthma and airway hyper-responsiveness

Based on data from the last five Olympic games, a study by the University of Western Australia has identified those athletes with asthma and airway hyper-responsiveness. With a prevalence of around 8% they are the most common chronic conditions among Olympic athletes, and could be related to intense training.

31 Jul 2012

Kids with congenital heart defect should receive early evaluation for developmental disorders

Children born with a congenital heart defect should receive early evaluation, prompt treatment and ongoing follow-up for related developmental disorders affecting brain function, according to a new American Heart Association scientific statement published in Circulation.

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

National Marfan Foundation’s annual conference to be held in Chicago

The National Marfan Foundation is gearing up for its 28th Annual conference, held at Northwestern Memorial Hospital in Chicago, August 2-5. Hosted by Northwestern Medicine- and the Ann and Robert H. Lurie Children's Hospital of Chicago, the four-day conference has something for everyone with Marfan syndrome (MFS) and related disorders, including access to many of the top MFS experts in the world.

31 Jul 2012

Study finds brain structural variations in people with highly superior autobiographical memory

UC Irvine scientists have discovered intriguing differences in the brains and mental processes of an extraordinary group of people who can effortlessly recall every moment of their lives since about age 10.

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

Elsevier introduces Applied and Translational Genomics journal

Elsevier, a world-leading provider of scientific, technical and medical information products and services, announces the launch of Applied and Translational Genomics, an open access journal.

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