Marsha R. Mailick, PhD – Slide of the Week

 Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains under-diagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown.

New NIH-funded initiative will examine Alzheimer’s disease in people with Down syndrome

A team of researchers at the University of Wisconsin–Madison is part of a new multi-institution effort to better understand Alzheimer’s disease in adults with Down syndrome. Adults with Down syndrome are at high risk for …

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.

Autism Research Series: Discovery to Solutions

Please join us for a community science event hosted by Autism Speaks Senior Director of Genomic Discovery and Translational Science, Dean Hartley, Ph.D. and special guest speakers from University of Wisconsin Madison Waisman Center. We …

Marsha R. Mailick, PhD – Slide of the Week

The FMR1 premutation is of increasing interest to the fragile X syndrome (FXS) community, as questions about a primary premutation phenotype warrant research attention. One hundred FMR1 premutation carrier mothers (mean age = 58; 67 to 138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, and motor and neurocognitive characteristics.

Machine learning can detect a genetic disorder from speech recordings

How much information can we extract from a five-minute recording of someone talking? Enough to tell whether that individual may be genetically predisposed to some health complications, according to researchers at the University of Wisconsin–Madison’s …