Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
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 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.
Eva Susan Borenitsch was magical. She knew no limits. “We called her our little unicorn,” says her mom Emily Borenitsch.
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.
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.
“The newborn screening is most likely the first test of your child’s life,” says Mei Baker, MD, co-director of the Newborn Screening Laboratory at the Wisconsin State Lab of Hygiene and a Waisman Center affiliate investigator.
If you ask David Seamans what his favorite thing to do is, he’ll pause thoughtfully for a moment before responding, “Everything.” He really does mean everything
There is no car in the driveway, neither phone nor electricity in the house. Handmade clothes dry on the line. It’s fall 2018, and La Farge physician James DeLine has brought us to talk with Barbara and Daniel Hochstetler, part of the large Amish population in Wisconsin’s Driftless Region.
Maddie’s parents know that, although they wish to take her home, the hospital is still the safest place for her. Born in January, Maddie was diagnosed with severe combined immunodeficiency, or SCID, a rare condition that makes her highly susceptible to infection.
In a study published today, Waisman Center investigators Su-Chun Zhang, Albee Messing and colleagues point to new understandings of the broad range of effects that result from the GFAP mutation impacting astrocytes — important supporting cells which comprise 20 to 40 percent of all cells in the brain. Cells donated by patients with Alexander disease …
