Autism (sometimes called “classical autism”) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autism is characterized by impaired social interaction, problems with verbal and nonverbal communication, and unusual, repetitive, or severely limited activities and interests. Other ASDs include Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Experts estimate that three to six children out of every 1,000 will have autism. Males are four times more likely to have autism than females.
An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.
Researchers have discovered an active multi-layer circuit that emerges in the cortex at an unexpectedly early stage of development using a new method for analyzing live embryonic mouse brains at single-cell resolution.
The biological foundations of a reproductive disease caused by a DNA mutation have been discovered by a University of California, Riverside study. Fragile X Syndrome, a major genetic contributor to cerebral impairment and autism, is also caused by this gene mutation.
Long thought of as "brain glue," the star-shaped cells called astrocytes-;members of a family of cells found in the central nervous system called glial that help regulate blood flow, synaptic activity, keep neurons healthy, and play an important role in breathing.
Researchers at the Broad Institute of MIT and Harvard and the McGovern Institute for Brain Research at MIT have harnessed a natural bacterial system to develop a new protein delivery approach that works in human cells and animals.
A recent study from Texas Children's Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD) with the identification of the first recurrently affected residue identified in the protein kinase domain of PAK1 protein.
A small nucleus in the brainstem called locus coeruleus (literally the "blue spot,") is the primary source of a major neuromodulator, norepinephrine (NE), an important mediator of the 'fight or flight' response in animals. However, very little is known about the local connections of this small albeit critically important group of neurons.
Researchers have identified two previously unknown genes linked to schizophrenia and newly implicated a third gene as carrying risk for both schizophrenia and autism. Led by the Icahn School of Medicine at Mount Sinai, the multi-center study further demonstrated that the schizophrenia risk conferred by these rare damaging variants is conserved across ethnicities. The study may also point to new therapeutics.
According to Johns Hopkins University scientists, a “biocomputer” fueled by human brain cells could be created within this lifetime. Such technology is expected to tremendously enhance the capabilities of modern computing and develop novel fields of study.
The Lieber Institute for Brain Development has received a $1 million, two-year grant from the Chan Zuckerberg Initiative to support the work of the African Ancestry Neuroscience Research Initiative (AANRI) to promote racial equity throughout the field of neuroscience.
Scientists at Scripps Research, with collaborators in Japan, have discovered how a "poisoned" form of a protein could set off a cascade of events that encourage the growth of some cancers.
Among the most promising areas of scientific inquiry is the study of the human microbiome and its effect on health. To fuel more rapid progress in this field, Andrea and Donald Goodman and Renee and Meyer Luskin have made a $20 million gift to establish the UCLA Goodman–Luskin Microbiome Center.
"Use it or lose it" goes the adage, applied liberally to everything from our muscles to our minds, especially as we age.
Why are some people diagnosed with ADHD while others are not? And when is the seed of ADHD sown, in life or the womb?
The first simple production of customizable proteins known as zinc fingers to treat diseases by turning genes on and off might be enabled with the help of an artificial intelligence (AI) program.
Twenty years ago, following the initial sequencing of the human genome, geneticists started carrying out extensive genome-wide association studies to find genomic regions connected to human disease.
Using samples from an almost century-old, ongoing survey of marine plankton, researchers at University of California San Diego School of Medicine suggest that rising levels of manmade chemicals found in parts of the world's oceans might be used to monitor the impact of human activity on ecosystem health, and may one day be used to study the connections between ocean pollution and land-based rates of childhood and adult chronic illnesses.
Autism and epilepsy are two highly prevalent conditions that fall under the umbrella of neurodevelopmental disorders (NDD), which affect 1–3% of the world’s population just in terms of cognitive disabilities.
Children’s Hospital of Philadelphia (CHOP) researchers have identified a particular genetic variant in SCN1A, the most common genetic epilepsy, that contributes to an earlier start of epilepsy with clinical features different from other epilepsies.
Researchers investigating the fundamental brain mechanics of autism spectrum disorder have discovered that a gene mutation known to be connected with the illness causes considerably more overstimulation of brain cells than in neuronal cells without the mutation.