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.
Rare Disorders
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.
Progress made toward treatment for rare, fatal neurological disease
After more than a decade of work, researchers at the University of Wisconsin–Madison’s Waisman Center reported promising results in the lab and in animal models that could set the stage for developing a treatment for Alexander disease, a rare and usually fatal neurological disease with no known cure.
SOFT Conference in Madison, WI
When Leila Adamson was born, doctors weren’t sure that she would live for even 63 seconds. More than 63 months later, in July 2017, she will be in Madison, Wisconsin, along with her parents, Kari …
Madison County girl hopes to help unlock cure of rare disease
Waisman Center Director, Albee Messing, is collaborating with researchers at the Children’s Hospital of Philadelphia to better understand the progression of Alexander disease, a rare and fatal neurological disorder with no known cure. In …
Biochemical Genetics Clinic helps children live healthier, happier lives
Sam Thompson is two-and-a-half years old and a super-charged giver of hugs.His green eyes sparkle as he first embraces his physician, Jessica Scott Schwoerer, and then his dietitian, Nikki Drilias. Then it’s a quick, laughter-filled …