Current Research

We are pleased to welcome the support of Dr. Katherine Bianco, a current researcher for Trisomy 18 and other related disorders. Here is just a little about her research:

The goals of the proposed research are to study the underlying mechanisms of aneuploid placentation, define the placental phenotype–genotype correlation, epigenetic gene expression modulators and how

manipulation of human trophoblast stem cells (hTSCs) can be translated into prenatal diagnosis for the clinical setting. This project is carefully tailored to my overall career goal, which is to pursue a career as an physician-scientist investigating the development of birth defects in the setting of chromosomal aberrations and/or epigenetic modulations. Specifically, I am interested in how the study of early placentation may provide targets for development of novel prenatal diagnosis techniques, such as up-regulated or down-regulate genes, the protein products of which could potentially serve as early biochemical markers of aneuploidy. In the initial phase of my research, I have used a microarray approach to identify candidate biological pathways affected by Trisomy 21 and Trisomy 18.

Currently, I am in the process of understanding how changes at the transcriptional level lead to the Down Syndrome(Trisomy 21) and Edward Syndrome(Trisomy 18) phenotypes. In addition, as an extension of this work I am seeking to verify T21/T18-related alterations in mRNA levels at the protein level. The proteins or peptides that are preferentially present and identified in a disease or pat

hologic state are well-suited for the development of convenient, rapid, sensitive, and specific diagnostic assays. However, to date, there has been no systematic protein-based attempt to identify unique biomarkers for DS/ES in maternal serum. In the near term, this work has the potential to improve blood-based tests that are widely used for T21/T18 non-invasive diagnosis, better understanding of placenta biology in the setting of aneuploid trophoblast, while establishing an experimental paradigm that can be applied for the diagnosis of other common embryonic/fetal aneuploidies.

Find out more about Dr. Bianco, her collegues and their research by clicking here.