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.

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.

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.