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University of Wisconsin–Madison
Waisman Center
Waisman Center
Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
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  3. Rare Disorders

Rare Disorders

Madison County girl hopes to help unlock cure of rare disease

Posted on July 12, 2017

  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 …

Posted in 2017, Alexander Disease, News, Rare Disorders, Research, YearTagged Albee Messing, Alexander disease

Biochemical Genetics Clinic helps children live healthier, happier lives

Posted on July 6, 2017

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 …

Posted in 2017, Clinics, News, Rare Disorders, UCEDD, YearTagged Biochemical Genetics Clinic, Newborn Screening

Better understanding a devastating neurological disease

Posted on April 24, 2017

Waisman Center investigator John Svaren collaborated with Ian Duncan, a professor of veterinary medicine at the University of Wisconsin–Madison, and others on a study that offers new insight into a rare human disease, called H-ABC, …

Posted in 2017, News, Rare Disorders, Research, YearTagged John Svaren

Researchers make headway toward understanding Alexander disease

Posted on March 15, 2017

Researchers at the University of Wisconsin–Madison have made a surprising and potentially crucial discovery about Alexander disease, a rare and fatal neurological disorder with no known cure. Using a mouse model for this disease, which …

Posted in 2017, Alexander Disease, Neurodegenerative, News, Rare Disorders, ResearchTagged Albee Messing, Alexander disease

Study finds a key to nerve regeneration

Posted on September 13, 2016

Researchers at the University of Wisconsin–Madison have found a switch that redirects helper cells in the peripheral nervous system into “repair” mode, a form that restores damaged axons. Axons are long fibers on neurons that …

Posted in 2016, Charcot-Marie-Tooth Disease, News, Rare Disorders, Research, YearTagged Charcot-Marie-Tooth Disease, Epigenetics

A rare gift: Family endows professorship in memory of children

Posted on August 31, 2016

In their photographs, Jenni and Kyle Geurkink look like happy, healthy children. Jenni has a captivating smile and a twinkle in her eyes. Kyle is a sturdy toddler who loves brooms, mops and any occasion …

Posted in 2016, Awards and Honors, News, Rare Disorders, Stem Cells, YearTagged Endowment, Thoughts of Gratitude, Xinyu Zhao

A case of (peripheral) nerves

Posted on August 4, 2016

Every day, Waisman Center researcher John Svaren deals with nerves – peripheral nerves, that is. Peripheral nerves connect the brain and spinal cord to our limbs and organs, serving as vital communication relays that allow …

Posted in 2016, Charcot-Marie-Tooth Disease, News, Rare Disorders, ResearchTagged Charcot-Marie-Tooth Disease, John Svaren

Su-Chun Zhang has a unique view of Wisconsin Institutes for Medical Research

Posted on December 2, 2013

From his sixth-floor laboratory in the University of Wisconsin Waisman Center, Su-Chun Zhang, MD, PhD, has a unique vantage point on the second tower of the Wisconsin Institutes for Medical Research (WIMR II), which is nearing completion.

Posted in 2013, Neurodegenerative, News, Rare Disorders, Stem Cells, YearTagged iPSC, Stem Cells, Su-Chun Zhang, Tim Gomez

Rare disease yields clues about broader brain pathology

Posted on November 20, 2013

Alexander disease is a devastating brain disease that almost nobody has heard of — unless someone in the family is afflicted with it. Alexander disease strikes young or old, and in children destroys white matter in the front of the brain.

Posted in 2013, Alexander Disease, Neurodegenerative, News, Rare Disorders, Research, YearTagged Albee Messing, Alexander disease, Tracy Hagemann

A Promising Sight

Posted on June 4, 2013

But the specks in the Petri dishes were the result of years of research in the laboratory of David Gamm, an ophthalmologist at the UW’s Waisman Center. And as members of the Reese family carefully cradled the dishes, they held the future of their descendants’ eyesight in their hands.

Posted in 2013, News, Rare Disorders, Stem Cells, VisionTagged Best Disease, David Gamm, Stem Cells, Vision
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