Archive for neurology
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
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
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
Neurological involvement common in kids and teens with acute COVID-19 and MIS-C
In the largest study of its kind, researchers from Boston Children’s Hospital found neurological involvement in 22 percent of children and adolescents hospitalized with acute COVID-19 or multisystem inflammatory syndrome in children (MIS-C). These symptoms included fatigue, headache, confusion, difficulty walking or crawling, or loss of taste and smell. However, 1 in 8 children with ... Read More
Getting COVID-19 vaccines to medically fragile children
As COVID-19 vaccines slowly roll out, should children who need complex care or have serious medical conditions be vaccinated? We asked experts around Boston Children’s Hospital, and their resounding answer is: Yes, if they are age 16 or older. Boston Children’s is actively planning to make vaccination happen for as many patients as possible, as ... Read More
Made-to-order therapies get a boost with new FDA guidelines
Ed. note: Mila passed away in February, 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just ... Read More
Botulism breakthrough? Taming botulinum toxin to deliver therapeutics
While rare, botulism can cause paralysis and is potentially fatal. It is caused by nerve-damaging toxins produced by Clostridium botulinum — the most potent toxins known. These toxins often lurk in contaminated food (home canning being a major culprit). Infants can also develop botulism from ingesting C. botulinum spores in honey, soil, or dust; the ... Read More
New strategies for restoring myelin on damaged nerve cells
Key takeaways Myelin is an essential fatty substance coating surrounding nerve axons. After injury, regenerated nerve axons usually fail to remyelinate, inhibiting nerve cell communication. A combination treatment led to remyelination in about 60 percent of regenerated axons. This research may have implications in other diseases associated with myelin loss, like multiple sclerosis. Loss of ... Read More
Scar-free healing after spinal cord injury relies on specialized cells
Key takeaways Scar tissue prevents nerves from communicating with each other. Microglia cells in the central nervous system help prevent scar tissue formation after spinal cord injuries in newborn mice. Transplanted newborn microglia cells drastically reduced scar formation in adult mice with spinal cord injury, opening the door to new treatment possibilities. One of the ... Read More