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.
Rare Disorders
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 …
Blockages in nerve-cell protein ‘factory’ implicated in neurodegenerative disease
Research by Waisman affiliate Jon Audhya shows new insight into the molecular basis underlying the neurodegenerative condition, hereditary spastic paraplegia (HPS). His recent study shows how a mutation in the TFG gene–one of several linked …
Scientists discover cause of aging-related disease in mice, then reverse its symptoms
In a study published in Aging Cell, researchers at the University of Wisconsin–Madison show that mice making too much of a human protein called AT-1 show signs of early aging and premature death, which are …
2018 Waisman Center Calendar – March
Searching for understanding, and a cure: Rett syndrome is a rare non-inherited neurological disorder that mostly affects girls and causes severe deterioration in their ability to speak, walk, eat and even breathe easily. This disease …
Waisman research into rare syndrome offers hope for families
Laurel Cooper is 8 years old and full of sass and spunk. She finds it hilarious when her older sister, Annalise, gets into trouble. She loves music, and being in the thick of things. Cooper also has Rett syndrome, a rare, non-inherited neurological disorder that mostly affects girls and causes severe deterioration in their ability to speak, eat, move and even breathe easily. Rett syndrome has no cure.