Category: Rare Disorders

Blockages in nerve-cell protein ‘factory’ implicated in neurodegenerative disease

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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 to HPS–impairs neurons from forming structures needed to transmit signals properly. Read the full article, please visit https://www.med.wisc.edu/news-and-events/2018/september/nerve-cell-protein-factory/

Scientists discover cause of aging-related disease in mice, then reverse its symptoms

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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 also symptoms of the human disorder progeria. Researchers were able to reverse the signs of accelerated aging and early death …

2018 Waisman Center calendar – March

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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 is caused by variations in a gene called MECP2. Waisman Center investigator Qiang Chang uses human stem cell and animal …

Waisman research into rare syndrome offers hope for families

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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

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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

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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 and James, and her sister, Madelyn, for the 31st annual conference of the Support Organization for Trisomy 18, 13 and …

Madison County girl hopes to help unlock cure of rare disease

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  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 a news story in the Belleville News-Democrat, Messing said that the study has already led scientists to several breakthroughs in …

Biochemical Genetics Clinic helps children live healthier, happier lives

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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 sprint across the room to his parents, Josh and Angie, who also get huge hugs. Sam is at the Waisman …

Better understanding a devastating neurological disease

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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, which can affect many parts of the brain and can lead to severe neurologic dysfunction. You can read more about …

Researchers make headway toward understanding Alexander disease

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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 in humans involves the destruction of white matter in the brain, a research team led by Albee Messing, director of …