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Genetic Linkage

Autism Gene Discovery Recalls Alzheimer’s and BRCA1 Stories

Discovery of a new gene behind autism cleverly combines genetic techniques new and classic.

Autism has been difficult to characterize genetically. It is probably a common endpoint for many genotypes, and is a multifactorial (“complex”) trait. That is, hundreds of genes contribute risk to different degrees, as do environmental factors. Research reports implicate either dozens of genes in genomewide sweeps, or focus on a few genes that encode proteins that act at synapses, such as the < href="https://www.autismspeaks.org/science/grants/neuroligins-and-neurexins-autism-candidate-genes-study-their-association-synaptic-con">neuroligins and neurexins. Read More 
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CRISPR Meets iPS: Technologies Converge to Tackle Sickle Cell Disease

Researchers from Johns Hopkins University have teamed two powerful technologies to correct sickle cell disease in a lab dish. Linzhao Cheng and colleagues have deployed CRISPR/Cas-9 on iPS cells to replace the mutant beta globin gene, published in Stem Cells.

ACRONYMS AND ABBREVIATIONS

CRISPR conjures up images of fried chicken, but it stands for “clustered regularly interspaced short palindromic repeats” – short repeated DNA sequences interspersed with areas called spacers, like stutters. The pattern of repeats and spaces attracts an enzyme, Cas9, which is like a molecular scissors that cuts wherever short RNA molecules called “guide RNAs” take it. Here’s a fuller descriptionRead More 
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The Man Who Ate 25 Eggs a Day

Cholesterol isn't the enemy -- triglycerides are.
Each morning at the retirement community, the healthy 88-year-old man received a delivery of 25 soft-boiled eggs, which he would consume during his day. This had been his way for many years. He’d had one experience of chest pain that might have been angina, but aside from that, he had a healthy cardiovascular system. He recognized that his only problem was psychological: “Eating these eggs ruins my life, but I can’t help it.”

I think of the Eggman, a brief case report from 1991 in the New England Journal of Medicine, whenever "news" of cholesterol’s unsuitability as a one-size-fits-all biomarker resurfaces, as it does every few years and did again a few weeks agoRead More 
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