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Genomics researchers discover novel gene variants in childhood CVID

Genomics researchers discover novel gene variants in childhood CVID

Genomics researchers analyzing a rare, serious immunodeficiency disease in children have discovered links to a gene crucial to the body's defense against infections. The finding may represent an inviting target for drugs to treat common variable immunodeficiency (CVID). [More]
Agena releases MassARRAY 24-Well System for mass spectrometry-based genetic testing

Agena releases MassARRAY 24-Well System for mass spectrometry-based genetic testing

Agena Bioscience today released the MassARRAY 24-Well System for mass spectrometry-based genetic analysis, adding to its existing MassARRAY portfolio. The new 24-well format is tailored to smaller clinical testing laboratories requiring modest sample throughput, reduced initial hardware costs, and reduced time to result. [More]
New partnership aims to create stem cell resource to study psychiatric disorders

New partnership aims to create stem cell resource to study psychiatric disorders

The New York Stem Cell Foundation and the Stanley Center at the Broad Institute of MIT and Harvard are partnering to create a foundational stem cell resource to study psychiatric disorders through the production of induced pluripotent stem (iPS) cell lines from individuals with schizophrenia and other psychiatric disorders. [More]
Leading medical societies jointly release new statement on using carrier screening in reproductive medicine

Leading medical societies jointly release new statement on using carrier screening in reproductive medicine

Carrier screening for inherited genetic disorders is an important part of preconception and prenatal care for the nearly 4 million women who give birth in the US annually. Carrier screening is meant to identify couples at risk for passing on such genetic conditions to their children. [More]
Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

There are two types of thyroid cells and therefore there are two broad types of thyroid cancer. Medullary carcinoma is derived from parafollicular or C cells, whereas follicular cells give rise to several types of thyroid cancers. [More]
Variants in fetus's DNA may trigger some early births

Variants in fetus's DNA may trigger some early births

Some babies seem to have a genetic predisposition to a higher risk of being born too soon, according to researchers in a study to be presented on Feb. 5 in an oral concurrent session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting in San Diego. [More]
Quest Diagnostics, CDC partner to identify trends in diagnosis and treatment for viral hepatitis

Quest Diagnostics, CDC partner to identify trends in diagnosis and treatment for viral hepatitis

Quest Diagnostics, the world’s leading provider of diagnostic information services, today announced that it will collaborate with the Centers for Disease Control and Prevention to identify trends in screening, diagnosis and treatment for four strains of viral hepatitis in the United States, based on insights revealed by analysis of Quest’s national testing database. [More]
Quest Diagnostics, CDC collaborate to reduce deaths from hepatitis

Quest Diagnostics, CDC collaborate to reduce deaths from hepatitis

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced that it will collaborate with the Centers for Disease Control and Prevention to identify trends in screening, diagnosis and treatment for four strains of viral hepatitis in the United States, based on insights revealed by analysis of Quest's national testing database. [More]
Rare, complex EGFR mutations adversely affect EGFR–TKI treatment outcomes

Rare, complex EGFR mutations adversely affect EGFR–TKI treatment outcomes

Individuals with advanced non-small-cell lung cancer who have rare or complex epidermal growth factor receptor mutations have inferior outcomes in response to EGFR–tyrosine kinase inhibitor treatment compared with those with common mutations, research indicates. [More]
UH Case Medical Center, ABL partner to design and validate HIV drug resistance tests

UH Case Medical Center, ABL partner to design and validate HIV drug resistance tests

University Hospitals Case Medical Center has signed an agreement with Advanced Biological Laboratories, an information technology and diagnostic company based in Luxembourg, to join efforts on the designing and validation of an HIV drug resistance and tropism assay based on next-generation sequencing (NGS). [More]
Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with infertility, is difficult to determine. [More]
Verizon announces winners of 2014 Powerful Answers Award

Verizon announces winners of 2014 Powerful Answers Award

The wait is over. Verizon is proud to announce the winners of Verizon's 2014 Powerful Answers Award, three in each of the following categories: education, health care, sustainability and transportation. [More]
SAFit-ligands provide foundation for novel treatment of stress-related psychiatric disorders

SAFit-ligands provide foundation for novel treatment of stress-related psychiatric disorders

The FK506-binding protein 51 (FKBP51) is an established risk factor for stress-related psychiatric disorders such as major depression. Drug discovery for FKBP51 has been hampered by the inability to pharmacologically differentiate against the very similar functional counterplayer FKBP52. [More]
Variants of ASIC1a gene appear to be associated with panic disorder

Variants of ASIC1a gene appear to be associated with panic disorder

Panic disorder is a severe form of anxiety in which the affected individual feels an abrupt onset of fear, often accompanied by profound physical symptoms of discomfort. Scientists have known from studying twins that genes contribute to the risk of panic disorder, but very little is known about which specific genes are involved. [More]
Different forms of ASIC1a gene associated with panic disorder

Different forms of ASIC1a gene associated with panic disorder

Panic disorder is a severe form of anxiety in which the affected individual feels an abrupt onset of fear, often accompanied by profound physical symptoms of discomfort. [More]
New study finds link between conflict and reinforcement learning

New study finds link between conflict and reinforcement learning

We celebrate our triumphs over adversity, but let's face it: We'd rather not experience difficulty at all. A new study ties that behavioral inclination to learning: When researchers added a bit of conflict to make a learning task more difficult, that additional conflict biased learning by reducing the influence of reward and increasing the influence of aversion to punishment. [More]
GenCell Biosystems acquired by Becton, Dickinson and Company

GenCell Biosystems acquired by Becton, Dickinson and Company

BD (Becton, Dickinson and Company), a leading global medical technology company, announced today that it has acquired GenCell Biosystems, a privately-held Irish biotech company that has developed proprietary technologies that address key biological analysis protocols – from library preparation of Next Generation Sequencing (NGS) to genotyping for agricultural applications. [More]
Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease is the most common condition within a family of rare diseases known as the lysosomal storage diseases. The disease causes lipids to accumulate in cells, which is why it is referred to as a storage disorder. The accumulation occurs mainly in the spleen, liver, and bones, but may also occur in the lungs, heart, and central nervous system. [More]
AZD9291 shows median progression-free survival in patients with EGFRm T790M+ advanced NSCLC

AZD9291 shows median progression-free survival in patients with EGFRm T790M+ advanced NSCLC

Updated data from the ongoing AURA study of AZD9291 shows encouraging, although still immature, median progression free survival of 9.6 months (95% CI 8.3 to NC) in patients with epidermal growth factor receptor mutation positive (EGFRm) T790M+ advanced non-small cell lung cancer (NSCLC) who had disease progression following treatment with an EGFR tyrosine kinase inhibitor (EGFR TKI). [More]
Axio Research announces launch of Statistical Genetics and Genomics services

Axio Research announces launch of Statistical Genetics and Genomics services

Axio Research announced today the launch of Statistical Genetics and Genomics services in response to the biopharmaceutical industry's need for advanced statistical support in the analysis and interpretation of complex genomic data for drug discovery and development, drug repositioning, and companion diagnostics development. [More]