Genetic News and Research

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Full genetic blueprint of multiple prostate tumors laid bare

For the first time, researchers have laid bare the full genetic blueprint of multiple prostate tumors, uncovering alterations that have never before been detected and offering a deep view of the genetic missteps that underlie the disease. The study, made possible by key advances in whole genome sequencing and analysis, points to several new prostate cancer genes and a critical category of genomic changes as important drivers of prostate cancer growth.

10 Feb 2011

EMA grants QLT positive opinions for Orphan Drug Designation of QLT091001 to treat inherited blindness

QLT Inc. today announced that QLT091001, an oral synthetic retinoid, has received positive opinions for two distinct Orphan Drug Designations by the European Medicines Agency (EMA) Committee for Orphan Medicinal Products (COMP) for the treatment of the inherited retinal degenerative diseases, Leber Congenital Amaurosis (LCA) and Retinitis Pigmentosa (RP).

10 Feb 2011

Alexion fourth quarter net product sales of Soliris increases to $156.0 million

Alexion Pharmaceuticals, Inc. today announced financial results for the quarter and year ended December 31, 2010. For the three months ended December 31, 2010, Alexion Pharmaceuticals, Inc. reported net product sales of Soliris® (eculizumab) of $156.0 million, reflecting strong additions of new patients, compared to $110.6 million for the same period in 2009.

10 Feb 2011

Alexion acquires investigational therapy for MoCD Type A ultra-rare genetic disorder from Orphatec

Alexion Pharmaceuticals, Inc. announced that it has purchased patents and assets from Germany-based Orphatec Pharmaceuticals GmbH related to an investigational therapy for patients with molybdenum cofactor deficiency (MoCD) Type A, a devastating ultra-rare genetic disorder characterized by severe brain damage and rapid death in newborns.

10 Feb 2011

Indiana University creates Institute for Personalized Medicine

Indiana University has announced a major commitment to research in one of health care's most promising fields with the creation of the Indiana Institute for Personalized Medicine.

10 Feb 2011

DNA sequencing of maternal blood plasma can accurately detect trisomy 21

In a study published online today in the American Journal of Obstetrics & Gynecology, researchers from the Sequenom Center for Molecular Medicine confirmed that DNA sequencing of maternal blood plasma could accurately detect trisomy 21.

10 Feb 2011

Scientists develop novel approach to detect long-distance chromosomal interactions for CAD

The discovery that a "gene desert" on chromosome 9 was a hotspot for coronary artery disease (CAD) risk was among the highlights of findings produced recently by genome-wide association studies, which compare the genomes of many people for genetic variations and have been broadly used in the past few years to study hundreds of diseases and complex traits. Gene deserts are large genomic segments devoid of genes.

10 Feb 2011

Study finds high prevalence of HS-AGING in individuals older than 95

The population of aged persons worldwide is expanding rapidly, and it is becoming increasingly clear that there are many different diseases that affect the minds of these individuals. Researchers at the University of Kentucky are breaking new ground in the ongoing project of identifying and defining those diseases most likely to affect an aged population.

10 Feb 2011

Patients with sensorineural hearing loss can benefit from mucosa-derived stem cell transplant

Stem Cell scientists in Australia have found that patients suffering from hearing problems which began during infancy and childhood could benefit from a transplant of stem cells from their nose. The research, published today in STEM CELLS, reveals that mucosa-derived stem cells can help preserve hearing function during the early-onset of sensorineural hearing loss.

10 Feb 2011

Scientists generate beating heart cells from skin cells of young patients with severe genetic heart defect

Using skin cells from young patients who have a severe genetic heart defect, Stanford University School of Medicine scientists have generated beating heart cells that carry the same genetic mutation. The newly created human heart cells - cardiomyocytes - allowed the researchers for the first time to examine and characterize the disorder at the cellular level.

10 Feb 2011

Scientists discover KCNH2 gene mutation in patients with long QT syndrome

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

10 Feb 2011

L-methylfolate in combination with antidepressant drug helps major depressive disorder patients

Data published in the January issue of Innovations in Clinical Neuroscience, www.psychiatrymmc.com, suggest when L-methylfolate, a medical food available commercially as Deplin®, and by prescription, is used for dietary management of depression in combination with an antidepressant drug at the start of depression therapy, it results in significantly more patients experiencing major improvement and more rapid improvement than antidepressant monotherapy alone.

10 Feb 2011

Pediatricians can play a key role in promoting tobacco-free lifestyle among children, adolescents

Nicotine addiction usually begins during the critical teenage years, and pediatric healthcare professionals can play a prominent role in promoting a tobacco-free lifestyle among children and adolescents, as described in an article published online ahead of print in Pediatric Allergy, Immunology, & Pulmonology, a peer-reviewed journal published by Mary Ann Liebert, Inc.

10 Feb 2011

Johns Hopkins funds 12 research groups to launch new BSi program on cognitive disorders

The Johns Hopkins Brain Sciences Institute has funded a total of $5 million to 12 different research groups at Hopkins to launch the new Synapses, Circuits and Cognitive Disorders Program. The new BSi program aims to understand the fundamentals of brain function by focusing on the synapse — the point of contact between two nerve cells — to better understand cognitive disorders.

9 Feb 2011

Everolimus phase III study shows improved progression-free survival in patients with pNET

In an international Phase III randomized study, everolimus, an inhibitor of the mammalian target of rapamycin, has shown to dramatically improve progression-free survival for patients with advanced pancreatic neuroendocrine tumors, according to researchers from The University of Texas MD Anderson Cancer Center.

9 Feb 2011

IDF commends Illinois advisory committee for unanimous vote to recommend SCID Newborn Screening

The Illinois Genetic and Metabolic Diseases Advisory Committee voted unanimously to recommend that the Department of Health screen all newborns for Severe Combined Immune Deficiency (SCID) - commonly known as bubble boy disease.

9 Feb 2011

Clinical Data reports $2.0 million revenue for third quarter 2011

Clinical Data, Inc. today announced operational and financial results for the third fiscal quarter ended December 31, 2010. The Company received approval from the U.S. Food and Drug Administration (FDA) of Viibryd™ for the treatment of adults with major depressive disorder (MDD) on January 21, 2011.

9 Feb 2011

Men with high levels of CCP genes more likely to have fatal form of prostate cancer

A genetic pattern could predict how aggressive prostate cancer is before treatment, and whether the disease will come back in men who have already been treated, according to research published1 in the Lancet Oncology.

9 Feb 2011

Specific gene variation linked to late-onset Alzheimer's

A new study from the Centre for Addiction and Mental Health (CAMH) has found evidence suggesting that a variation of a specific gene may play a role in late-onset Alzheimer's, the disease which accounts for over 90% of Alzheimer's cases. This innovative study has combined genetics and brain imaging to determine who may be at risk for developing late-onset Alzheimer's disease long before symptoms appear.

9 Feb 2011

Researchers link brain's neural networks to specific cognitive functions

The human brain operates as a highly interconnected small-world network, not as a collection of discrete regions as previously believed, with important implications for why many of us experience cognitive declines in old age, a new study shows.

9 Feb 2011

Genetic News and Research

Full genetic blueprint of multiple prostate tumors laid bare

EMA grants QLT positive opinions for Orphan Drug Designation of QLT091001 to treat inherited blindness

Alexion fourth quarter net product sales of Soliris increases to $156.0 million

Alexion acquires investigational therapy for MoCD Type A ultra-rare genetic disorder from Orphatec

Indiana University creates Institute for Personalized Medicine

DNA sequencing of maternal blood plasma can accurately detect trisomy 21

Scientists develop novel approach to detect long-distance chromosomal interactions for CAD

Study finds high prevalence of HS-AGING in individuals older than 95

Patients with sensorineural hearing loss can benefit from mucosa-derived stem cell transplant

Scientists generate beating heart cells from skin cells of young patients with severe genetic heart defect

Scientists discover KCNH2 gene mutation in patients with long QT syndrome

L-methylfolate in combination with antidepressant drug helps major depressive disorder patients

Pediatricians can play a key role in promoting tobacco-free lifestyle among children, adolescents

Johns Hopkins funds 12 research groups to launch new BSi program on cognitive disorders

Everolimus phase III study shows improved progression-free survival in patients with pNET

IDF commends Illinois advisory committee for unanimous vote to recommend SCID Newborn Screening

Clinical Data reports $2.0 million revenue for third quarter 2011

Men with high levels of CCP genes more likely to have fatal form of prostate cancer

Specific gene variation linked to late-onset Alzheimer's

Researchers link brain's neural networks to specific cognitive functions

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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