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.
Edward Michael Hubbard, PhD – Slide of the Week
Adults and children alike struggle with fractions, but it also turns out that learning fractions is vitally important for later math skills. Our lab has suggested that children’s ability to learn fractions might build on a more basic perceptual ability to see and understand non-symbolic ratios, which has been demonstrated even in non-human primates.
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 …
Sigan Hartley, PhD – Slide of the Week
Title: Bidirectional Relations between Maternal Warmth and Criticism in a Five Minute Speech Sample and Emotional and Behavior Problems of Children with Autism Legend: Association between maternal warmth and criticism in a Five Minute Speech sample …
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.
UCEDD Slide of the Week
The Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Screening Program (WNSP) to improve health care in the Plain community by targeting early identification of, and intervention for, patients with inherited metabolic disorders.
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.
Tracy L. Hagemann, PhD & Albee Messing, VMD, PhD – Slide of the Week
Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein.
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.
Jan Greenberg, PhD – Slide of the Week
Expressed emotion (EE) is a measure of the family’s emotional climate and has been shown to be associated with a range of symptoms and psychiatric outcomes in individuals with various disabilities. In addition, growing evidence suggests that high levels of family distress are associated with high EE.