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.
Rare Disorders
Newly funded research to study astrocyte dysfunction in Rett syndrome
The lab of Waisman Center director, Qiang Chang, PhD, professor of medical genetics and neurology, has received $1 million in funding from the Department of Defense to study the dysfunction of astrocytes, a key brain cell that supports neurons, in Rett syndrome.
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.
Researcher clinicians help bridge the gap between scientific discovery and medical care – Part 1
Research and clinical services go hand in hand. One can’t effectively work without the other.
Reaching beyond Rett Syndrome: How a family and the Waisman Center are working to improve care for those with rare syndrome
Several months after Ella’s first birthday, she received her diagnosis of Rett syndrome. “It was devastating, life changing. It’s rare – we hadn’t heard of it before we started this journey and it’s a very difficult diagnosis to process,” Jennifer says.
We need to know STAT: Mechanisms behind GFAP accumulation in Alexander disease involve transcription factor STAT3.
The hallmarks of Alexander disease, aggregation of misfolded GFAP proteins and dysregulation of brain cells called astrocytes, may be stopped and reversed in rodent models with the inactivation of the transcription factor STAT3.
Alexander disease: A lifetime’s work in the hope of saving lives
Messing wanted to study if the overexpression of GFAP resulted in a certain reactive response in the brain.
Lab-grown retinal eye cells make successful connections, open door for clinical trials to treat blindness
Retinal cells grown from stem cells can reach out and connect with neighbors, according to a new study, completing a “handshake” that may show the cells are ready for trials in humans with degenerative eye disorders.
PKU patients around Wisconsin are grappling with the formula shortage too
People with metabolic disorders who require formula to ensure adequate nutrition are among those dealing with a months long shortage — the Waisman Center at UW-Madison is seeking to help source alternatives, even as such options can be stressful.
The Bone Dysplasia Clinic’s many decades of helping families
The start of the Waisman Center’s Bone Dysplasia Clinic was a case of serendipity. It was 1980 and Richard Pauli, MD, a pediatric geneticist, had just arrived at UW-Madison. Over the course of the year, Pauli settled into his new role at UW Hospital. Then in 1981, he was approached by radiologist Len Langer, MD, with a strange request.