“Reversal” of Down Syndrome in Mice?

We’ll start by tempering expectations: The breakthrough you’re about to read about has “no direct link” to a human treatment, reports AFP, but it’s noteworthy nonetheless. Scientists say they’ve identified a molecule that “reverses” the effects of Down syndrome in mice. The molecule is called sonic hedgehog pathway agonist, and it was administered to mice who were genetically altered to have characteristics akin to those of Down syndrome. The molecule, which is not approved as safe for humans, spurs a gene to make a protein tied to development.

“Most people with Down syndrome have a cerebellum that’s about 60% of the normal size,” says one of the Johns Hopkins researchers. Science World Report notes that the mice were injected on the day they were born, at which point their cerebellums hadn’t fully developed. The single injection appeared to normalize the cerebellum’s growth. In an added surprise, memory and learning, “which are generally controlled by the hippocampus, not the cerebellum,” were also positively affected. But the researcher explains that applying the treatment to humans is a tricky proposition, and could have unintended consequences, like raising cancer risk.

http://mobile.abc.net.au/news/2013-09-05/downs-syndrome-reversed-in-newborn-mice/4936412

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Scientists create human ‘mini-brain’; Autism we are gunning for you

We live in such an amazing time. The concept of growing mini-brains out of stem cells sounds like something out of science fiction to most and might raise the question of “Why” to others. This advancement of being able to create cerebral organdies is a huge step in not only understanding the complexity of the brain but also furthering our ability to manage complex conditions such as autism and schizophrenia. High quality global journalism requires investment.  “What made the observations particularly exciting is that cells from a patient with a severe disorder of brain development [microcephaly] developed into an abnormal organoid with features analogous to many of those in the patient,” said Paul Matthews, professor of clinical neuroscience at Imperial College London. “The investigators then showed that these abnormal features could be ‘cured’ by replacing the defective gene.”

The scientists in Vienna grew mini-brains from both human, embryonic stem-cells and “induced pluripotent stem-cells” derived from adult tissues. They first converted the stem cells into neuro-ectoderm, the cell layer from which the nervous system develops, in a special culture medium.

Pieces of neuro-ectoderm were transferred to a gel scaffold that permitted 3D growth, nourished in a spinning bioreactor. The organoids stopped growing after two months, when they reached about 4mm in diameter, because they lacked the blood supply required for further development.

Scientists create human ‘mini-brain’ – FT.com.

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Gene therapy reverses Rett Syndrome in Animal Model

Gene therapy in mice shows great success in treating Rett syndrome, a physically disabling form of autism that affects girls. “The treated mice showed profound improvements in motor function, tremors, seizures and compulsive movements”

The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders. Gail Mandel, Ph.D., a Howard Hughes Investigator at Oregon Health and Sciences University, led the study. The Rett Syndrome Research Trust, with generous support from the Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation, funded this work through the MECP2 Consortium.

Today’s study is the first to show reversal of symptoms in fully symptomatic mice using techniques of gene therapy that have potential for clinical application.

Rett Syndrome is an X-linked neurological disorder primarily affecting girls; in the US, about 1 in 10,000 children a year are born with Rett. In most cases symptoms begin to manifest between 6 and 18 months of age, as developmental milestones are missed or lost. The regression that follows is characterized by loss of speech, mobility, and functional hand use, which is often replaced by Rett’s signature gesture: hand-wringing, sometimes so intense that it is a constant during every waking hour. Other symptoms include seizures, tremors, orthopedic and digestive problems, disordered breathing and other autonomic impairments, sensory issues and anxiety. Most children live into adulthood and require round-the-clock care.

http://www.autismspeaks.org/science/science-news/gene-therapy-reverses-rett-syndrome-animal-model

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A Fridge, Car Windows and iChastity Belts

The Internet of Things is rapidly expanding. I the past week I have seen a internet connect sprinkler system, a connected train set and craziest is an internet connected diaper pad to potty train your autistic kid. One of my favorite examples is the toilet developed by MIT that determines the health of the user by taking realtime samples. Military experts are thinking of using them to monitor soldiers’ health. But a cooler example is having underpants that can measure if they are on or off, and for how long. Fathers can finally sleep soundly knowing their smart phones will alert them if their teenage daughters are without pants for too long a time.

http://www.idgconnect.com/blog-abstract/2925/a-fridge-car-windows-ichastity-belts

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