Department of Genetics

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Esther Berko Receives a Predoctoral Fellowship

Esther Berko, an MSTP student from the Department of Genetics working in the Greally lab, has been awarded a Weatherstone Predoctoral Fellowship from Autism Speaks for her project to study the molecular events underlying the increased risk of autism in children of older mothers.

Autism Speaks is the nation's largest organization dedicated to funding and facilitating autism research. The Dennis Weatherstone Predoctoral Fellowship program was established in 2009, and funds a total of 8 young scientists each year. The goal of the program is to support people early in their careers who have an interest in pursuing autism research in the long-term.

Esther is studying whether maternal age results in aneuploidy in autistic offspring, problems of monosomy or trisomy for certain chromosomes, but remaining covert because of mosaicism for cells with normal chromosome complements. Such mosaicism is poorly detected by routine peripheral blood studies that involve cell culture, as the normal cells appear to outgrow the aneuploid cells. In addition, the normal cells may have uniparental disomy if they contain two chromosomes from one parent. To reveal the aneuploidy, Esther has developed a strategy to sample buccal epithelial cells by brushings, followed by extraction of the DNA and genotyping to look for the extra allele in a trisomy, for example. She was recently selected to participate in the Cold Spring Harbor Laboratory course on Integrative Statistical Analysis of Genome Scale Data, as she is combining clinical contact, molecular assays and computational biology in her project.

The project is funded by a gift to the Children's Evaluation and Rehabilitation Center (CERC) by the Jonas Ehrlich Foundation, awarded to the Center director Robert Marion MD. Patients are being recruited to the study by collaborating colleagues in the Children's Evaluation and Rehabilitation Center (CERC), and the Departments of Pediatric and Adult Neurology at Montefiore. The advisory committee for the project consists of John Foxe, the scientific director of the CERC, Robert Marion, Jan Vijg, chair of Genetics, and Melissa Fazzari and Brett Abrahams from the Department of Genetics.

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