New TGen test uses the unique genetics of women to uncover neurologic disorders

Using a basic genetic difference between men and women, the Translational Genomics Research Institute (TGen) has uncovered a way to track down the source of a neurological disorder in a young girl.

TGen's discovery relies on a simple genetic fact: Men have one X and one Y chromosome, while women have two X chromosomes. This women-only factor was leveraged by TGen investigators to develop a highly accurate method of tracking down a previously unrecognized disorder of the X-chromosome.

How does the brain develop in individuals with autism?

Geneticists at Heidelberg University Hospital’s Department of Molecular Human Genetics have used a new mouse model to demonstrate the way a certain genetic mutation is linked to a type of autism in humans and affects brain development and behavior. In the brain of genetically altered mice, the protein FOXP1 is not synthesized, which is also the case for individuals with a certain form of autism. Consequently, after birth the brain structures degenerate that play a key role in perception. The mice also exhibited abnormal behavior that is typical of autism.

Gene Variants Implicated in ADHD Identify Attention and Language Deficits in the General Population

A new study published in the current issue of Biological Psychiatry, by researchers at Cardiff University School of Medicine and the University of Bristol, suggests that there is a spectrum of attention, hyperactivity/impulsiveness and language function in society, with varying degrees of these impairments associated with clusters of genes linked with the risk for ADHD.

Viewing these functions as dimensions or spectrums contrasts with a traditional view of ADHD as a disease category.

The Brain, in Exquisite Detail

But science, by its nature, pursues synthesis, diagrams, maps — a grip on the mechanism of the thing. We may not solve the brain any time soon, but someday achieving such a solution, at least in scientific terms, is the fervent hope of neuroscience.

Scientists Prevent Preterm Birth Caused By Gene-Environment Interactions

The combined impact of genetic predisposition and environmental stress on preterm birth has received increased attention by researchers to determine its causes and potential preventive strategies. Scientists in the current study tested gene-environment interactions in a robust mouse model of prematurity and identified a similar molecular signature in human tissue samples from women who experienced premature birth.

New tool enhances the search for genetic mutations

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have a neutral effect on human health, many others are associated with diseases and disease susceptibility.

MECP2 duplication affects immune system as well as brain development

In 1999, Dr. Huda Zoghbi and colleagues at Baylor College of Medicine identified the genetic cause of Rett syndrome (a neurological disorder that begins after birth) MECP2 mutation. Too little of the MeCP2 protein associated with the gene causes the girls whom it affects to regress, gradually losing their speech, the use of their hands and many cognitive functions.