Research and clinical services go hand in hand. One can’t effectively work without the other.
Rare Disorders
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.
A life full of love and magic: Eva S. Borenitsch
Eva Susan Borenitsch was magical. She knew no limits. “We called her our little unicorn,” says her mom Emily Borenitsch.
Promising treatment for Alexander disease moves from rat model to human clinical trials
Alexander disease is a progressive and rare neurological disorder with no cure or standard course of treatment. But a new study led by researchers at the University of Wisconsin–Madison involving a rat model of the disease offers a potential treatment for the typically fatal condition.
Innovative UW Undiagnosed Genetic Disease Clinic seeks to identify rare genetic conditions
The UW Center for Human Genomics and Precision Medicine at the UW School of Medicine and Public Health recently opened its first patient clinic, the UW Undiagnosed Genetic Disease Clinic at the Waisman Center.