Genetic repeats—a sequence or segment of DNA that is repeated over and over in a row—is a typical part of the genome. However, when there is an atypical number of repeats in the DNA sequence, it can lead to impaired gene function and be the cause of more than 50 expansion conditions including fragile X syndrome (FXS).
Fragile X Syndrome
LEADer Study (A. Sterling)
The purpose of this research is to better understand how skills related to executive function like memory and flexible thinking are related to grammar and language comprehension and production in children with FXS, DS, and DLD, and a comparison group of neurotypical children.
Discovery reveals mitochondria as potential treatment target for fragile X syndrome
Fragile X syndrome, the most common form of inherited intellectual disability, may be unfolding in brain cells even before birth, despite typically going undiagnosed until age 3 or later.
New research expands understanding of impact of rapamycin on fragile X syndrome
Fragile X syndrome (FXS) is the most common heritable form of intellectual and developmental disability. It is also the most common single genetic contributor to autism spectrum disorder (ASD).
The large scope of research on fragile X syndrome at the Waisman Center
Research studies at the Waisman Center cover both basic science and behavioral research on FXS, starting with the individual, up to the family unit, from childhood, and into old age.
Waisman investigator one of 12 to receive a Kellett Mid-Career Award
Xinyu Zhao, PhD, Waisman investigator and professor of neuroscience, was recently awarded a Kellett Mid-Career Award, among 11 others, by the Office of the Vice Chancellor for Research and Graduate Education.
Boys with fragile X syndrome + autism spectrum disorder and autistic boys show high rates of word omission during conversations
A recent study shows that boys with fragile X syndrome and co-occurring ASD (fragile X + ASD), and autistic boys have similar patterns of linguistic errors and omit more words in conversations compared to non-autistic boys.
Audra Sterling, PhD – Slide of the Week
Expressive language impairments are common among school-age boys with fragile X syndrome (FXS) and autistic boys.
One mutation, many challenges: Unraveling the mystery behind fragile X syndrome
One mutation in a single gene, as straightforward as it may sound, can cause a broad range of symptoms and severity among those who carry it. This is the case for fragile X syndrome (FXS), the most common hereditary form of intellectual disability.
New Department of Defense grant to study fragile x syndrome in human cells
Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, will partner on research over the next four years to better understand the molecular underpinnings behind the diversity of FXS symptoms and how that diversity may inform the search for effective therapies.