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

For the first 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 researchers are conducting research for individuals with Down syndrome, and the third is investigating a rare genetic syndrome called cardio-facio-cutaneous syndrome (CFC).

Alper Bozkurt, PhD, Assistant Professor of Electrical and Computer Engineering and Biomedical Engineering at North Carolina State University in Raleigh, NC. It is estimated that 30% of infants with Down syndrome have moderate to severe sleep apnea, and that percentage increases to 50% - 60% of toddlers. Poor sleep is linked to cognitive impairment in people living with Down syndrome, and traditional sleep studies are difficult to conduct on young patients.

The Foundation’s grant to Dr. Bozkurt will assist in the design of a low cost, miniaturized wireless system that can study and predict abnormal sleep performance in young children with Down syndrome.

ANTICIPATED BENEFIT: Easier, more accurate, and less invasive sleep study for young patients suspected of having sleep apnea, making earlier treatment more likely.

Johann Hitzler, MD, researcher at the Hospital for Sick Children, Research Institute in Toronto has been provided with funds to identify children with Down syndrome who are at risk for developing acute myeloid leukemia (AML). The incidence of AML is 150 times more frequent in young children with Down syndrome and is preceded during infancy by a pre-leukemic disorder called Transient Leukemia (TL), which has a 20% risk of transforming into AML.

Currently, all children with AML receive the same course of treatment, but Dr. Hitzler believes that treatment may be excessive, and by identifying the mutations that cooperate in transforming transient leukemia to AML, doctors may be able to provide more personalized treatments, reducing dosage levels of drugs; and therefore, the patient’s toxic response to treatment.

ANTICIPATED BENEFIT: Personalized treatment for children with Down syndrome who develop acute myeloid leukemia using lower doses of drugs with better outcomes.

Lauren Weiss, PhD, Assistant Professor, University of California, San Francisco has been awarded a grant to study the morphological and functional consequences of cardio-facio-cutaneous syndrome (CFC) mutations across neuronal (nerve cell) subtypes.

Dr. Weiss and her team at UCSF are studying the most common genetic mutations responsible for CFC. Her preliminary data suggest that the anatomical and functional manifestations of CFC is caused by differences in the timing of the development of neural cells (link provided for the ambitious, but REALLY interestint). The purpose of her investigations is to identify or screen for potential targeted treatments to improve the lives of these patients.

ANTICIPATED BENEFIT: Better understanding of the progression of cell development to better identify treatments that may be effective in improving the lives of patients with CFC.

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