A ‘pump’ gene’s surprising role in early brain formation
In polymicrogyria, the cortex of the brain has many irregular, small folds (gyria) and disorganization of its layers. Many affected children have severe developmental delay, intellectual disabilities, and epilepsy, and many need to use a wheelchair. Mutations in several different genes can cause this “overfolding of the brain” condition. Key takeaways The gene ATP1A3, associated ... Read More
An ‘atlas’ of the choroid plexus across the lifespan
Once viewed merely as a producer of the cerebrospinal fluid (CSF) bathing the brain and spinal cord, the choroid plexus is now known to be a key player in brain development and immunity. These fronds of brain tissue, located in the CSF-filled brain cavities known as ventricles, secrete instructive cues into the CSF to regulate ... Read More
Motor neurons made from patients’ cells reveal possible ALS drugs and targets
Amyotrophic lateral sclerosis (ALS) is a severe, fatal neurodegenerative disorder causing loss of motor neurons and voluntary muscle action. While mouse studies have identified potential treatments, these drugs have typically done very poorly in human trials. “One of the most difficult challenges in drug discovery is identifying a target that has a key role in ... Read More
What drives severe lung inflammation in COVID-19?
A main feature of COVID-19 is lung inflammation and respiratory failure caused by an overexuberant immune response known as the cytokine storm. But why does the body produce such an excess of cytokine immune cells? New research from Talal Chatila, MD, of the Division of Immunology at Boston Children’s Hospital and colleagues provides some insights, ... Read More
Recommendations for reproducibility in stem cell research
The ability to program induced pluripotent stem cells (iPSCs) and drive their differentiation into a variety of neural cells is essential for studying neurological disorders, including intellectual and developmental disabilities (IDDs). But issues regarding variability and reproducibility from lab to lab make translating discoveries difficult, in turn slowing the progress of IDD research. To address ... Read More
New technique yields potential treatment for a common cause of autism
Since 2008, we have known that the 16p11.2 chromosomal region is linked with autism spectrum disorder (ASD). Now, researchers from Boston Children’s have developed a new way to study the effects of 16p11.2 deletion in human neurons. In the process, they also found a potential treatment, possibly expanding the therapeutic options for this specific cause ... Read More