Research is at the heart of the mission of the Jerome Lejeune Foundation. Thanks to the generosity of our benefactors, we are able to offer two opportunities each year for researchers to apply for funding from the Foundation to support their research.

For the second cycle of 2015 our Scientific Advisory Board recommended three new grants to researchers working to improve the lives of people living with genetic intellectual disabilities. Two of these projects are investigating fragile X syndrome and the other is a project to improve reading comprehension in children with Down syndrome.

Nancy Raitano Lee, PhD
Psychology Department
Drexel University Philadelphia, PA

Elucidating the Cognitive Underpinnings of Reading Comprehension Difficulties in Children with Down syndrome

Current estimates suggest that individuals with Down syndrome, on average, read at an early elementary school level. Dr. Lee believes that children with Down syndrome have a syndrome-specific reading profile, that if better understood can be used to develop more effective reading interventions.

In this clinical study, Dr. Lee will identify predictive models of reading difficulties in people living with Down syndrome by contrasting their development with two other groups. Specifically, she will develop specific reading profiles for three groups of children: 1.) Those with Down syndrome, 2.) Those whose intellectual disability is due to mixed causes, and 3.) Typically developing youth. She will be searching for syndrome-specific weaknesses that may be strongly predictive of reading in Down syndrome compared to the other groups.

Anticipated benefit: The development of better strategies to teach reading comprehension for individuals living with Down syndrome.

Roberto Galvez, PhD
University of Illinois, Champaign
Department of Psychology

The role of VEGF-A in Fragile X Syndrome abnormalities during development; implications for therapeutic interventions

Fragile X syndrome is the most common form of inherited mental retardation. Studies in a mouse model of fragile X have shown that they possess an increased level of a protein called vascular endothelial growth factor A (VEGF-A) that can cause an increase in the growth of axons and neurites, the long thread-like parts or projections of nerve cells that carry impulses from cell to cell, and also increase cell survival. This increase results in abnormalities of neuronal structures observed in people with fragile X.

Dr. Galvez and his team have shown that a drug called Avastin, an FDA approved medication used for metastatic cancer therapy, improves novel object recognition in adult mice with fragile X. Avastin acts in cancer patients by slowing the growth of new blood vessels and in mouse models of fragile X, it reduces a marker for this increased axonal growth to normal levels.

This improvement in memory suggests to them that neuronal abnormalities in fragile X are at least partially due to excess brain VEGF-A and also that many abnormalities in fragile X may be alleviated by blocking VEGF-A. Funding from the Jerome Lejeune Foundation will allow Dr. Galvez and his team to expand these findings by exploring the effectiveness of Avastin on alleviating fragile X abnormalities during development.

Anticipated Benefit: Further investigation of a potential therapy to improve developmental outcomes for individuals living with fragile X syndrome.

Wendy Machalicek PhD BCBA-D
University of Oregon, Eugene

Project i-HELP Internet based behavioral consultation for families of children with Fragile x syndrome who engage in challenging behavior

Challenging behaviors such as self-injurious behaviors often appear during early childhood in males with full mutation fragile X syndrome. To date, behavioral intervention research with individuals with fragile X has been limited, in part due to the low incidence of the population in any particular geographical area negating experimental group design research. Dr. Machalicek believes, however, that the use of video teleconferencing technology offers a novel way to deliver time intensive parent coaching and feedback.

Funding from the Jerome Lejeune Foundation will allow Dr. Machalicek to evaluate the effects of distance parent education and coaching delivered via “real time” desktop videoconferencing on mother’s use of an evidence based behavioral intervention to decrease challenging behavior of their young boy (ages 24 to 50 months) with fragile X. In addition, the sustained effects of this intervention will be evaluated for 18 months following conclusion of the intervention.

Anticipated benefit: The development of a novel methods of assisting parents of children with fragile X in addressing challenging behaviors to better incorporate them into families and communities.