Improved technique illuminates fragile X protein

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.

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.