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Molecular Diagnostics

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Mutated Gene Biomarker Identified for Rare Adrenal Tumors

A mutation in a gene has been found that may serve as a biomarker for the rare adrenal tumors pheochromocytomas and paragangliomas that become malignant.  More...
03 Feb 2015
Image: A psoriatic plaque, showing a silvery center surrounded by a reddened border (Photo courtesy of Dr. James Heilman).

Proteins Likely to Trigger Psoriasis Identified

Psoriasis is an autoimmune skin disease characterized by well-demarcated areas of red, raised and scaly skin next to areas of normal-appearing skin and is an autoimmune disease where the body launches an abnormal immune response against its own tissues.   More...
03 Feb 2015
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Dominant Gene Mutation Causes Incurable Eye Disorder

Retinitis pigmentosa damages the retina and its early symptoms include decreased night vision and peripheral vision and once it starts, the loss of vision is relentlessly progressive, often ending in blindness.  More...
02 Feb 2015
Image: A mature Plasmodium ovale trophozoite in a thin blood film (Photo courtesy of the CDC – US Centers for Disease control and Prevention).

Neglected Malaria Subspecies Characterized by Novel Molecular Assay

Plasmodium ovale subspecies are similar based on morphology and geographical distribution, but allelic differences indicate that P. ovale curtisi and P. ovale wallikeri are genetically divergent.  More...
26 Jan 2015
Image: The ABI 7500 HT real-time polymerase chain reaction system (Photo courtesy of Applied Biosystems).

New Gene Identified That Drives Triple-Negative Breast Cancer

A novel gene has been discovered that, when mutated, can drive development and progression of triple-negative breast cancer which is an aggressive form of the disease that accounts for 10% to 20% of breast cancers.  More...
25 Jan 2015
Image: For each chromosome, key SNPs are displayed above the chromosome and non-key SNPs below the chromosome, enabling users to determine the accuracy of haploblock calling. SNPs failed to be called are displayed as white points in the middle of the chromosome (Photo courtesy of Illumina).

Karyomapping Proposed as Alternative to Preimplantation Genetic Diagnosis for Evaluation of IVF Embryos

British researchers have suggested that karyomapping is a viable and cost-effective method for detecting a wide range of genetic diseases in IVF embryos.  More...
19 Jan 2015

Data Reinforce HPV as First-Line Test in Cervical Cancer Screening

Newly published data from a 3-year trial support new, interim professional guidance from medical societies on use of human papillomavirus as a first-line test in cervical cancer screening for women from age 25.   More...
18 Jan 2015
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