CMT is equally common among all ages, genders, and races and is one of the most common heritable neurological impairments. The symptoms present as neuropathy, foot drop, poor balance, difficulty with dexterity, or abnormal sensation – just to name a few.
Year
Electronic records pin broad set of health risks on genetic premutation
It was long believed the FMR1 premutation — an excessive number of trinucleotide repeats in the FMR1 gene — had no direct effect on the people who carry it. Until recently, the only recognized effect on the carriers of the flawed gene was the risk of having offspring with fragile X syndrome, a rare but serious form of developmental disability.
How to help low-income children with autism
Speaking with Spectrum News, Waisman Center investigator Maureen Durkin describes the connections between autism prevalence numbers, socioeconomic status and race, and what the connections means for research. To read the full video, visit the Spectrum …
Cell component breakdown suggests possible treatment for multiple neural disorders
UW-Madison research published today (Feb. 11, 2019) reveals how one mutation causes fragile X, the most common inherited intellectual disability. “Fragile X syndrome has been studied as a model of intellectual disability because in theory it’s comparatively simple,” says senior author Xinyu Zhao, a professor of neuroscience in the Waisman Center at the University of Wisconsin–Madison.
Lab to Clinic Video: David Gamm, MD, PhD
David Gamm, director of the McPherson Eye Research Institute, and Forward Bio Institute director Bill Murphy explain how stem cell scientists at UW–Madison are working with industry to put scientific breakthroughs on the path to …
Waisman’s stem cell research into Down syndrome gives family hope
It’s not a cure for Down syndrome that Dave Witte and Cristina Delgadillo want for their 5-year-old daughter. “Olivia is our daughter and we love her, and we love her because of who she is. …
How speaking is a lot like playing darts
Winning a game of darts requires being accurate. A player who can pick a spot on the board, focus their mind, and execute the specific motor action needed to land the bullseye will win the game. And if they miss, well, practice makes perfect.
Connecting research and clinics to help those with autism
One of the goals of the study is to discover how genetic variations in young people with ASD are related to brain changes that lead to clinical symptoms of the disorder, such as impaired social interaction and repetitive behaviors.
“If you think about it, in between genes and clinical symptoms [of ASD] are changes in brain development,” says Lainhart. “Genes first impact brain development, and as a result of changes in how the brain develops, there are clinical manifestations of what we recognize as ASD.”
Waisman Center 2018: Year in Review
We’re delighted to share a video highlighting many of the strides we have made over the past year. Your generous and thoughtful contributions help us continue to pioneer research and expand clinical services that benefit …
Ritalin drives greater connection between brain areas key to memory, attention
We know enough about methylphenidate – more commonly known as Ritalin – to prescribe it to mediate attention challenges. However, UW researchers aided by Waisman scientists are taking the first steps toward a deeper understanding …