Counseling Is A Crucial Component Of Genetic Testing

COLUMBUS, Ohio – Cori Williams was driving home with four children in her car when she learned via a cell phone call that she had tested positive for a genetic mutation that greatly increases her risk for developing both breast and ovarian cancer.

Mutations in Gene Linked to Ciliopathies

By Debra Kain — An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies.

Discovery of genetic mutation in Leigh syndrome

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system.

Unlikely genetic suspect implicated in common brain defect

A genetic search that wound its way from patients to mouse models and back to patients has uncovered an unlikely gene critically involved in a common birth defect which causes mental retardation, motor delays and sometimes autism, providing a new mechanism and potentially improving treatment for the disorder.

Common Variation in Gene Linked to Structural Changes in the Brain

By Debra Kain — An international group of researchers is the first to show that common variations in a gene – previously shown to be associated with Retts Syndrome, autism, and mental retardation – are associated with differences in brain structure in both healthy individuals and patients with neurological and psychiatric disorders. Their findings will be published in the early online edition of the Proceedings of the National Academy of Sciences the week of August 17.

More evidence that genes increase a smokers' risk of lung cancer

CANCER RESEARCH UK funded scientists have confirmed that inherited changes in certain regions of the genome can increase a smokers' risk of developing lung cancer lung cancer, and determine the type of lung cancer that develops. Their results were published in this week's edition of the journal Cancer Research.