Researchers at the Waisman Center made a significant step in understanding the function of a specific protein, FMR1, whose absence causes fragile X syndrome, or FXS. Waisman investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, with research associate Meng Li, published their paper “Identification of FMR1-regulated molecular networks in human neurodevelopment” in the March issue of the journal Genome Research.
News
Task force offers tools allowing patients on ventilators to communicate
For a patient suffering from a life-threatening illness like COVID-19, communication means everything. If that person is on a ventilator and no visitors are allowed in the room, doctors and nurses must rely on tools …
Five language outcome measures evaluated for intellectual disabilities studies
A multi-university team of researchers found that expressive language sampling (ELS) can be useful in measuring outcomes in clinical trials targeting fragile X syndrome (FXS). According to their study, ELS, a set of procedures for collecting and analyzing spoken language in natural verbal interactions, yielded five language-related outcome measures that may be useful for treatment studies in intellectual disabilities, especially FXS.
Thoughts of Gratitude: Scott Kornstedt
Shortly after Raegan was born to Scott and his wife Carrie, she was diagnosed with phenylketonuria, or PKU — a rare metabolic disorder that prevents her from properly metabolizing phenylalanine, a common amino acid that exists in most proteins. PKU is a rare disorder that affects approximately 16,000 people in the U.S. It is one of 47 disorders for which newborns in Wisconsin are screened. If left untreated, it can cause intellectual disabilities, seizures, among other health-related issues.
Newly identified cellular trash removal program helps create new neurons
New research by University of Wisconsin–Madison scientists reveals how a cellular filament helps neural stem cells clear damaged and clumped proteins, an important step in eventually producing new neurons.
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.
Catherine Kanter Named Speech-Language Pathologist of the Year
“I then found in speech-language pathology a wonderful marriage of my love for language and communication and helping individuals with disabilities, and came to UW-Madison to complete my graduate degree,” says Kanter, who has worked as a full-time speech-language pathologist, or SLP, at the Waisman Center since June 2018.
Navigating a Brighter Future for Youth with Disabilities and Their Families
Helping youth with disabilities pursue post-high school employment and education opportunities can mean piecing together services from a broad range of agencies and organizations. This can be a challenge for anyone, but for low-income families, …
New Researcher Uses Machine Learning to Decode Genomic Information
Recent advances in genome sciences — the study of an organism’s complete set of DNA — present a golden opportunity to identify the genetic causes and underlying mechanisms of intellectual and developmental disabilities. These discoveries …
Mancheski Foundation Funds Next-Gen Research on Down Syndrome and Alzheimer’s
A gift from the Mancheski Foundation continues to provide integral support to doctoral student Matthew Zammit as he furthers his research on the progression of Alzheimer’s disease in individuals with Down syndrome. Zammit is beginning …