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Molecular Diagnostics

Disease Genes Effect May Be Overcome by Other Gene Mutations

A first-of-its-kind study, performed in the model yeast Saccharomyces cerevisiae, shows how “bad genes aren’t always bad news” in that the disease-causing effects of mutations in certain genes can be overcome by suppression-mutations in certain other genes. The study opens a new way for better understanding how some people naturally stay healthy despite having disease-causing mutations, and potentially a new path to better diagnostics and therapies of genetic disorders. More...
15 Nov 2016
Image: When the mouse gene Rabep2 is deficient, the number and diameter of collateral blood vessels are reduced by 50-60%, and the amount of brain tissue that dies after stroke is more than doubled. The human version of Rabep2 is likely to have a comparable function (Image courtesy of the Faber Lab, University of North Carolina School of Medicine).

Vascular Development Gene Helps Protect Against Stroke Damage

Using CRISPR gene-editing technology and genetically engineered mice, scientists have discovered that a “collateral vessels” gene, Rabep2, protects against stroke damage. Variants of the human version of the gene may help explain why people differ so much in their ability to survive artery blockages. More...
15 Nov 2016
Image: False color image of a brain from a patient with schizophrenia (Photo courtesy of the National Institute of Mental Health).

Common Gene Sets Disrupted in Major Psychiatric Disorders

The measurement of gene expression in postmortem brain is an important tool for understanding the pathogenesis of serious psychiatric disorders such as schizophrenia, bipolar disorder and major depression. More...
11 Nov 2016
Image: The Cholestech LDX analyzer for POC lipid testing (Photo courtesy of Alere).

Early Childhood Screening Helps Prevent Heart Attacks

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels and is the main inherited cause of early heart disease and without preventive medication young FH adults has about a 10-fold increased risk of a heart attack before the age of 40. More...
08 Nov 2016
Image: Immunohistochemistry image of invasive squamous cell carcinomas of tonsil tissue showing overexpression of p16, which is a very good surrogate marker for HPV infection (Photo courtesy of David C. Hoak, MD).

New Genetic Factors Linked to HPV-Related Cancers

A new, large-scale genetic study of head and neck cancers shows why some individuals infected with human papillomavirus (HPV) may go on to develop oropharyngeal cancer while others do not. More...
04 Nov 2016

Testing Method Clinically Ascertains Genetic Basis for Hypercholesterolemia

Next-generation sequencing technology is transforming our understanding of heterozygous familial hypercholesterolemia, including revision of prevalence estimates and attribution of polygenic effects. More...
03 Nov 2016
Image: Motor neurons of Drosophila showing that expression of variant p.Arg534Trp of the fly’s equivalent of human ATAD3A gene causes a decrease in the number of mitochondria (green). Top row, control; middle row, motor neurons with normal (wild type) fly’s equivalent of human ATAD3A gene; bottom row, motor neurons with variant R534W of the fly’s equivalent of human ATAD3A gene. VNC, ventral nerve cord; Neurons are labeled in blue and boutons, an area of synapsis with another neuron, in red (Photo courtesy of The American Journal of Human Genetics).

Gene Abnormality Found to Underlie Rare Neurological Disease

Researchers have discovered that malfunctioning variants of a gene encoding a mitochondrial protein results in a group of related neurological syndromes classified as conditions of unknown origin. The study sheds new light on causes of such diseases and opens a door for developing better diagnostic tools and treatments. More...
03 Nov 2016
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.

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