"We were amazed by the extent to which microexons are misregulated in people with autism," says Professor Benjamin Blencowe

Very small segments of genes called "microexons" influence how proteins interact with each other in the nervous system, scientists at the University of Toronto have found, opening up a new line of research into the cause of autism.

The greater the exposure, the greater the risk, researchers found.

Women exposed to high levels of fine particulate matter specifically during pregnancy--particularly during the third trimester--may face up to twice the risk of having a child with autism than mothers living in areas with low particulate matter, according to a new study from Harvard School of Public Health (HSPH). The greater the exposure, the greater the risk, researchers found. It was the first U.S.-wide study exploring the link between airborne particulate matter and autism.

Sparks literally fly when a sperm and an egg hit it off. The fertilized mammalian egg releases from its surface billions of zinc atoms in “zinc sparks,” one wave after another, found a Northwestern University-led interdisciplinary research team that includes experts from the U.S. Department of Energy’s Advanced Photon Source at Argonne National Laboratory.

Using cutting-edge technology they developed, including new high-energy X-ray imaging techniques, the team is the first to capture images of these molecular fireworks and pinpoint the origin of the zinc sparks: tiny zinc-rich packages just below the egg’s surface.

Zinc flux plays a central role in regulating the biochemical processes that ensure a healthy egg-to-embryo transition, and this new unprecedented quantitative information should be useful in improving in vitro fertilization methods.

Posted by BioMed Central

Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease, according to the results of a clinical trial published in the open-access Orphanet Journal of Rare Diseases

Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease, according to the results of a clinical trial published in the open access Orphanet Journal of Rare Diseases. The study also shows some promising preliminary results for the efficacy of the drug combination.

Thousands of families will benefit from pioneering programme for diagnosing rare diseases

The first nationwide project to genetically diagnose rare diseases will pave the way for translating advances in genomics into patient care in the NHS. Deciphering Developmental Disorders (DDD), which is funded by the Wellcome Trust Sanger Institute and the Department of Health and Wellcome Trust through the Health Innovation Challenge Fund, is working with 12,000 families to diagnose their child's developmental disorder, demonstrating the feasibility and value of introducing large-scale sequencing diagnostics into health care.