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Vol. LXVII, No. 13
June 19, 2015
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Digest

A Patient’s Budding Cortex—in a Dish?

Budding brain-like “human cortical spheroids” grow in a Petri dish.

Budding brain-like “human cortical spheroids” grow in a Petri dish.

Photo: Sergiu Pasca, Stanford University

A patient tormented by suicidal thoughts gives his psychiatrist a few strands of his hair. She derives stem cells from them to grow budding brain tissue harboring the secrets of his unique illness in a Petri dish. She uses the information to genetically engineer a personalized treatment to correct his brain circuit functioning. Just sci-fi? Yes, but...

An evolving “disease-in-a-dish” technology, funded by NIH, is bringing closer the day when such a seemingly futuristic personalized medicine scenario might not seem so far-fetched. Scientists have perfected mini cultured 3-D structures that grow and function much like the outer mantle—the key working tissue, or cortex—of the brain of the person from whom they were derived. Strikingly, these “organoids” buzz with neuronal network activity. Cells talk with each other in circuits, much as they do in our brains.

The work with what are called “human cortical spheroids” appeared May 25 online in the journal Nature Methods.

“There’s been amazing progress in this field over the past few years,” said NIMH director Dr. Thomas Insel, whose institute provided most of the funding for the study. “The cortex spheroids grow to a state in which they express functional connectivity, allowing for modeling and understanding of mental illnesses. They do not even begin to approach the complexity of a whole human brain. But that is not exactly what we need to study disorders of brain circuitry. As we seek advances that promise enormous potential benefits to patients, we are ever mindful of the ethical issues they present.”

NIH Study Finds Alcohol Use Disorder on the Rise

Alcohol use disorder, or AUD, is the medical diagnosis for problem drinking that causes mild to severe distress or harm. A new study supported by the National Institute on Alcohol Abuse and Alcoholism reports that nearly one-third of adults in the United States have an AUD at some time in their lives, but only about 20 percent seek AUD treatment. The study also reveals a significant increase in AUDs over the last decade. The new findings were reported online June 3 in JAMA Psychiatry.

“These findings underscore that alcohol problems are deeply entrenched and significantly under-treated in our society,” said NIAAA director Dr. George Koob. “The new data should provide further impetus for scientists, clinicians and policy makers to bring AUD treatment into the mainstream of medical practice.”

A team of researchers led by Dr. Bridget F. Grant of NIAAA conducted more than 36,000 face-to-face interviews of U.S. adults as part of the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions III (NESARC-III). NESARC III is a continuation of the largest study ever conducted on the co-occurrence of alcohol use, drug use and related psychiatric conditions. The original NESARC survey was conducted in 2001-2002.

NIH Researchers Pilot Predictive Medicine by Studying Healthy People’s DNA

A new study by NIH scientists has turned traditional genomics research on its head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy participants, then analyzed the data to find “putative,” or presumed, mutations that would almost certainly lead to a genetic condition.

Out of almost 1,000 volunteers whose genomes were examined, about 100 had genomic variants predicting that they would have a rare disease. Almost half of them indeed had the disease when researchers went back and carefully evaluated them, said NHGRI’s Dr. Leslie Biesecker, corresponding author of the study published June 4 in the American Journal of Human Genetics.

“We were surprised that this many individuals had positive findings in a group of individuals that is basically healthy,” said Dr. Jennifer Johnston, lead author and staff scientist in NHGRI’s clinical genetics section. The research is part of ClinSeq, a large-scale, NIH research study that explores the fundamental medical, molecular and bioinformatic challenges facing individualized genome sequencing in a clinical research setting.

Once they identified participants with genomic mutations, researchers called them back to the clinic to give them a customized work-up. They called this method of looking at the person after looking at the genomic data “iterative phenotyping.”

“We achieved about a 50 percent accuracy of predicting disease in people not knowing anything about their health status beforehand,” Biesecker said. In other words, the researchers changed the odds of these patients having one of these diseases from something like 1 in 50,000 to 1 in 2.

Given this accuracy, Biesecker is upbeat about the future of genomic medicine. “These results show that you can dramatically improve your predictions based on genome sequence information.”


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