Down syndrome  is caused by a triple copy of chromosome 21, which leads to a number of cognitive and physical delays. Now researchers from the Sanford-Burnham Medical Research Institute in La Jolla, California, have found a protein that restores the some of the cognitive and behavioral disorders found in the disease.

Mice who were deficient in the SNX27 protein exhibited similar characteristics to mice with Down syndrome—namely, they had fewer glutamate receptors, which are important for learning and memory, the team reported in Nature Medicine on Sunday (March 24). The researchers also showed that in mice with Down syndrome, the protein is blocked by a molecule encoded on chromosome 21, and produced in excess in Down syndrome mice as a re ...

Waardenburg Syndrome is a rare autosomal genetic disorder that has possible bright blue eyes as one of its qualifying criteria, along with possible deafness (common). Actually, the cause of the blue eyes is a form of albinism that may include patches of non-pigmented skin or forehead hair, regardless of ethnicity.

There are four types of Waardenburg Syndrome, with a mix of possible characteristics as the determinant. Medical challenges increase with type. The boy in the picture is displaying two major symptoms of type 1; bright blue eyes and dystopia canthorum, a condition where the inner corners of the eyes are set more widely apart, but with normally distanced eyes. ...

Surgeons have successfully replaced a patient’s skull with a 3D-printed version. Three months after the operation the patient, a 22-year-old woman with a rare disorder that thickened her skull and gave her poor eyesight as well as headaches, has recovered her eyesight and has gone back to work.

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Great news! ReWalk, a motorised exoskeleton suit that helps people who are paralysed from the waist down to stand up and walk again, has been approved for personal use.

Human trials are now planned. If successful, the simple, cheap HIV vaccine could be taken as a probiotic-like drink.

The new vaccine works in the opposite way to most vaccines - by suppressing, rather than triggering, an immune response. This is because HIV and SIV actually require immune cells known as CD4 T-cells in order to proliferate and establish an infection in the body.

Source: http://www.aidsmap.com/Novel-immune-suppressant-vaccine-completely-blocks-HIV-infection-in-monkeys-human-trials-planned/page/2902377 ...

Good news for pain-pill poppers: Ibuprofen (found in Advil) may help you live longer. A new study shows that it increases life span in lab organisms, raising the possibility it does the same thing in people.

To put ibuprofen through its paces, biochemist Michael Polymenis of Texas A&M University, College Station, and colleagues gave yeast, nematode worms, and fruit flies doses of the drug that are comparable to what humans would take. The life spans of all three types of organisms increased if they received ibuprofen, the researchers report today in PLOS Genetics. In yeast, for instance, ibuprofen stretched life span by 17%, half of what researchers can produce by cutting the cells’ food supply (another approach to increasing longevity). ...