Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
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.
Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). How FMRP regulates neuronal development and function remains unclear. Here we show that FMRP-deficient immature neurons exhibit impaired dendritic maturation, altered expression of mitochondrial genes, fragmented mitochondria, impaired mitochondrial function, and increased oxidative stress.
The size and shape of human cervical vertebral bodies serve as a reference for measurement or treatment planning in multiple disciplines. It is therefore necessary to understand thoroughly the developmental changes in the cervical vertebrae in relation to the changing biomechanical demands on the neck during the first two decades of life.
Individuals with autism spectrum disorder often struggle with motor difficulties across the life span, and these motor difficulties may affect independent living skills and quality of life. Yet, we know little about how whole-body movement may distinguish individuals with autism spectrum disorder from individuals with typical development.
Loss of vision can frequently lead to a loss of independence and a reduction in quality of life for an individual. The Tekin lab is interested in harnessing new mobile technologies to provide access to environmental information for persons with vision loss.
Facial Movements Are Unreliable Signals of Emotion, Researchers Say Software that purportedly reads emotions in faces is being deployed or tested for a variety of purposes, including surveillance, hiring, clinical diagnosis, and market research. But a new scientific report finds that facial movements are an inexact gauge of a person’s feelings, behaviors or intentions. “It …
The nonprofit Hononegah Archery is hosting the second annual Julie’s Archers for Autism and Rock River Music festival from noon-9 p.m. on Aug. 3 at Settlers Park in Rockton. Funds raised will support autism research at the Waisman Center. Read the full story here: Archery event raises funds for autism research
Peripheral nerve myelination is adversely affected in the most common form of the hereditary peripheral neuropathy called Charcot-Marie-Tooth Disease. This form, classified as CMT1A, is caused by a 1.4 Mb duplication on chromosome 17, which includes the abundantly expressed Schwann cell myelin gene, Peripheral Myelin Protein 22 (PMP22).
Human induced pluripotent stem cells (iPSCs) present exciting opportunities to study disease processes in vitro. Advances in bioengineering allow us to differentiate cells in a system more relevant to their native environment in order to observe naturally occurring phenomena.
For many, a mention of Special Olympics invokes images of accomplished athletes, a community of inclusion and support, and the joy of athletic competition. But what many may not know is that Special Olympics is the world’s largest public health organization for individuals with intellectual disabilities. Research shows that individuals with disabilities experience high rates …
