Emily Kudalkar, Phd, Facmg, Cgmbs Email & Phone Number

Aurora, Colorado, United States

Chicago, Illinois

Chicago, Illinois

-Somatic and germline cancer classification. Directed development of tools for patient reporting.-Therapeutic expert responsible for all genome-guided drug and prognostic indications for reporting.

Chicago, Illinois

Chicago, Illinois

Cambridge, Massachusetts

-Developed a 23 gene pharmacogenomic next-generation sequencing (NGS) diagnostic panel that includes highly homologous and polymorphic genes CYP2D6 and HLA-B. Extensively reviewed literature to guide gene and variant selection for panel. Participated in technical design, analysis, and clinical validation. Created template patient reports, wrote interpretations and guidelines. Developed SOP for quality control and pipeline for clinical reporting.-Participated in development of kidney disease and pulmonary disease NGS diagnostic panels. Established gene-disease validity, assessed variants, and designed Sanger primers for confirmation.-Variant assessment for multi-gene diagnostic panels and exome. Evaluated published literature, clinical data, and functional evidence for variant classification. Well-versed in using large databases (HGMD, LOVD, Clinvar, ExAC) for interpretation, and bioinformatics tools (SIFT, PolyPhen, UCSC) for in silico functional analysis.- Supported clinical sequencing efforts of the eMERGEIII Consortium by assessing gene-disease validity for 53 genes, managing site preferences, and preparing presentations.

My research focused on cell division, a process that must ensure equal distribution of genomic content to each new daughter cell every time. If division goes awry, cells can accumulate multiple copies of chromosomes or broken partial chromosomes, which has been correlated with cancer progression and birth defects. I studied the kinetochore, a multi-component molecular machine that physically partitions chromosomes during mitosis. Using a combination of approaches including genetics, cell biology, biochemistry, and single molecule biophysical assays I discovered a novel mechanism of regulating outer kinetochore microtubule-binding by a central kinetochore component.

My graduate research addressed a major current question in cell biology: how do cells establish asymmetry in a contiguous system? I approached this problem by studying an asymmetrically distributed gene activator that acts only once in a cell's lifetime. Using biochemical, genetic, and cell biological techniques, I defined a mechanism for switching gene expression on and off within connected cells.

Phd, Cell Biology

Bachelor'S Of Science, Biology