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.
Rare Disorders
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.
Routine test reveals rare diseases
“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.
Whole Exome Sequencing Illuminates Genetic Condition
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
21st century medicine helps Amish deal with rare, inherited illnesses
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.
‘Anything can kill her’: Area family credits newborn screening with saving baby’s life
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.
Mutation in common protein triggers tangles, chaos inside brain cells
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 …