Expressive language impairments are common among school-age boys with fragile X syndrome (FXS) and autistic boys.
Fragile X Syndrome
Seminar – Peter Todd, MD, PhD – “Nucleotide Repeat Expansion Disorders: Molecular Mechanisms and Paths to Therapy”
Peter K. Todd, M.D., Ph.D., is the Bucky and Patti Harris Professor and Associate Chair of research in the Department of Neurology in the University of Michigan Medical School. Todd’s lab studies the mechanisms by which nucleotide repeat expansions cause neurological disorders with a long term goal of developing novel therapeutics for these currently untreatable conditions.
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.
Seminar – Carlos Portera-Cailliau, MD, PhD – “Cortical Circuits in Neurodevelopmental Disorders”
Dr. Carlos Portera-Cailliau investigates synaptic and circuit changes in the mouse model of Fragile X syndrome in his lab at the UCLA David Geffen School of Medicine, where he is on faculty. He has received grants from the NIH, the Dana Foundation, the March of Dimes Foundation, the Simons Foundation, and the John Merck Fund. From 2013 to 2021 he was the co-director of the UCLA-Caltech medical Scientist Training Program. He still sees patients in the movement disorders clinic.
Cancer drug may be treatment option for fragile X syndrome
A newer cancer drug may also be a treatment option for a leading intellectual and developmental disability. Fragile X syndrome (FXS) is the most common form of inherited intellectual disability.
Celebrating the Manlick family’s ten years of research participation
James Manlick is going to homecoming this year and he simply can’t contain his excitement. A huge smile lights up his face as he talks about the dance.
Marsha Mailick, PhD – Slide of the Week
Title: Association between FMR1 CGG Repeat Number Polymorphism and Phenotypic Variation in the General Population Legend: Associations between CGG repeat lengths and phenotypes. (A) Linear association with IQ. (B) Linear association with college graduate (males only). (C) …
Audra Sterling, PhD – Slide of the Week
Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9–18 years) with idiopathic ASD (n = 26) and FXS+ASD (n = 29), and relationships with maternal maze use.
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.