Just like a car factory relies on inspectors to ensure that every vehicle is built correctly, cells depend on internal quality control systems to keep proteins functioning as they should. New research from Waisman Center investigator Luigi Puglielli, MD, PhD, professor of medicine at the University of Wisconsin-Madison, reveals that disruptions in one such system—the endoplasmic reticulum’s acetylation pathway—can lead to rare forms of autism and progeria, offering fresh insights into the cellular roots of these complex conditions.
Aging
Health trajectory of mothers of children with developmental disabilities shows a ‘wear-and-tear’ effect starting around age 65
Mothers of children with developmental disabilities experience long-term stress, adapting for many years but showing signs of ‘wear-and-tear’ starting around age 65, affecting their physical and mental health.
A family’s commitment to Down syndrome research at the Waisman Center spans four decades and counting
When Heather Huismann was in middle school she called the police on her teacher. “He was not teaching me very well,” Heather says.
Listening through the lens of culture: How acoustic environments shape language development
The influence of culture on an individual’s everyday life, behavior, and values is as ubiquitous as the air we breathe.
Autism through midlife and into older age
Autistic adults may face changes in their autism symptoms, behavioral functioning, and health as they age, with some improving and some worsening, a new study shows. This insight may help autistic individuals and their families prepare and plan for the future.
Taking out the trash: New study finds clearing specific cell “trash” is possible and may be target for future treatments of neurodegenerative diseases
Cells make a lot of trash. Probably more than you’d think. So, cells have a trash disposal system that efficiently cleans up and recycles any waste that is produced. But when there are issues with the disposal system and trash builds up in the cell, that can lead to disease. This has led researchers to consider the trash disposal system as a target for potential disease treatments and therapies.
Waisman Center IDDRC funds three pilot projects on novel Down syndrome research
Three Waisman Center investigators and affiliates were awarded an internal grant to support Down syndrome research in its early stages. The funds were made possible through the Ann Dewey Down Syndrome Catalyst Fund at the Waisman Center.
Let’s get moving: physical activity can be challenging but highly beneficial for individuals with developmental disabilities, a few modifications may help
Español By Charlene N. Rivera-Bonet | Waisman Science Writer The researchers interviewed for this story use identity-first language in alignment with the preferences of many of those in the autistic community. This story reflects that preference. …
Study reveals differences in brain structure for older autistic adults
A recent study continues to add to the body of evidence that the brain structure of autistic individuals is different from the structure of neurotypical individuals.
Understanding the connection between Down syndrome and Alzheimer’s disease
Allison and Amber Westemeier get excited every time they take a trip to the Waisman Center from Oshkosh, WI.