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UA Geneticists Find Causes for Severe Childhood Epilepsies

By Guest PostMay 11, 2013Healthbio5 member, breakthrough, causes, chromosome abnormalities, clinical genomics, clinical practice, conventional genetic testing, ct scans, developmental brain disorders, dinesh talwar, dna sequencing technique, epilepsy, genetic defects, jeff wilhelm, journal epilepsia, krishna veeramah, linda restifo, magnetic resonance imaging, michael hammer, molecular diagnostics, mutations, neurologist, Phoenix, robert erickson, seizure disorders, severe childhood epilepsies, ua geneticists, university of arizona, whole exome sequencing

Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.

Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing.

Instead of sequencing each gene one at a time, the team used a technique called whole-exome sequencing: Rather than combing through all of the roughly 3 billion base pairs of an individual’s entire genome, whole-exome-sequencing deciphers only actual genes, and nearly all of them simultaneously. (more…)

Pesticides and Parkinson’s: UCLA Researchers Uncover Further Proof of a Link

By Guest PostJanuary 11, 2013Environment, Healthaaron lulla, aldehyde dehydrogenase, aldh, aldh activity, arthur g fitzmaurice, benomyl, benomyl exposure, brain malformations, california, carcinogenesis, case, cellular event, central valley, common chemical, culprit, damage, degeneration of neurons, disease, dopal, dopaminergic neurons, drifting particles, environmental protection agency, enzyme, genetic variations, hoa a lam, jeff bronstein, link, lisa barnhill, liver tumors, maneb, mid brain, molecular tweezers, neurologist, neuron, neurotransmitter, nigel t maidment, paraquat, parkinson's, parkinsons symptoms, pesticide, progression of disease, protein, reproductive effect, rigidity, slowed movement, speech, spray, substantia nigra, therapeutic drugs, toxicological effect, toxin, tremor, ucla, ziram, α synuclein

Study suggests potential new target in fight against debilitating disease

For several years, neurologists at UCLA have been building a case that a link exists between pesticides and Parkinson’s disease. To date, paraquat, maneb and ziram — common chemicals sprayed in California’s Central Valley and elsewhere — have been tied to increases in the disease, not only among farmworkers but in individuals who simply lived or worked near fields and likely inhaled drifting particles.

Now, UCLA researchers have discovered a link between Parkinson’s and another pesticide, benomyl, whose toxicological effects still linger some 10 years after the chemical was banned by the U.S. Environmental Protection Agency. (more…)

Deflating Scientific Fallacies

By Guest PostApril 6, 2011Sciencecognitive errors, multifaceted psycho-cultural phenomenon, neurologist, neuromuscular function, scientific thinking, skeptics_guide_to_the_universe, steven_novella

Yale neurologist Steven Novella populates his podcasts and blogs with aliens, ghosts and creationists for a single purpose: to help resurrect the lost art of scientific thinking.

“I am interested in how otherwise intelligent people can get things so horribly wrong,” says Novella. In the process of answering that question he created the website Skeptics Guide to the Universe — which, with 150,000 listeners a week, is one of the 10 most popular science sites on the internet. (more…)

Tag Archives: neurologist

UA Geneticists Find Causes for Severe Childhood Epilepsies

Pesticides and Parkinson’s: UCLA Researchers Uncover Further Proof of a Link

Deflating Scientific Fallacies