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.
Neurodevelopmental Disabilities
Atypical infant movements tied to cerebral palsy may signal differences in brain connectivity
Brain connectivity differences linked to atypical infant movements may aid the early prediction of cerebral palsy development after a perinatal brain injury, a new Waisman Center study shows.
Child’s rare condition diagnosed after 14 years of searching
Imagine how it would feel to have a child born seemingly healthy, but then he struggles to grow, walk, learn or talk – and no one can figure out why.
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. …
Physician, educator, mentor: After three decades at Waisman, Wargowski Retires
Wargowski, after three decades of providing exceptional patient care to hundreds of patients in the Medical Genetics Clinics at Waisman, is retiring at the end of June.
Life as neurodivergent people in Wisconsin
Waisman Center clinicians, Madeline Barger and Megan Farley, were featured on Wisconsin Public Radio’s The Morning Show on “Life as Neurodivergent People in Wisconsin”.
Developing a neural network to overcome the biggest enemy of MRI scans: movement
Movement is the arch nemesis of MRI (magnetic resonance imaging) scans.
Branching out beyond where it’s planted: The story of the Waisman Center’s University Center for Excellence in Developmental Disabilities, Part 2
Former UCEDD director Bill MacLean with current director Leann DaWalt.
UW effort to map Down syndrome brain raises prospect of treatment for disorder
In a lab near UW Hospital, Megan Jandy grows stem cells from people with Down syndrome — 10 batches of cells, most in three-dimensional clusters, each batch featuring one group with the extra chromosome that causes the disorder and one group without it.
Building bridges between disciplines: Marsha Mailick’s interdisciplinary research and leadership at the Waisman Center
Multiple angles of vision all focused on a common question is what attracted Marsha Mailick, PhD, emeritus vice chancellor for research and graduate education at the University of Wisconsin-Madison, to the Waisman Center more than 35 years ago.