We find that at least a fifth of the exonic non-synonymous variants in genomes of healthy individuals alter the molecular functions of the genes that they affect. The fact that we remain healthy in spite of these changes is evidence of our species robustness in a certain range of biochemical functionality. In individuals affected by complex diseases, the specific functional backgrounds contribute to pathogenicity mechanisms. Distinguishing between the combinatorial loads of the functionally non-neutral variants in relevant pathways of disease-affected and healthy individuals contributes to our understanding of the genetic mechanisms of complex disease. Our lab’s novel computational methods leverage functional effects of genome variants in disorder-specific genes to predict individual disease susceptibility. We develop and test our methods using the genetic and clinical data from patients affected by a range of complex disorders, such as Crohn’s disease, COPD, and Tourette disorder. Our work motivates new experimentally testable hypothesis regarding the biological mechanisms of these diseases and may eventually provide a means for earlier prognosis, more accurate diagnosis and the development of better treatments.
Dr. Bromberg received her Bachelor degrees in Biology and Computer Sciences from the State University of New York at Stony Brook and a Ph.D. in Biomedical Informatics from Columbia University, New York. Dr. Bromberg is known for her seminal work on a method for screening for non-acceptable polymorphisms, or SNAP for short, which evaluates the effects of single amino acid substitutions on protein function. Currently, her research is focused on the analysis of human variomes for disease predisposition, functional annotation of microbiomes, and the study of evolution of life’s electron transfer reactions. Dr. Bromberg actively participates in organizing the ISMB/ECCB conferences (ISMB stands for Intelligent Systems for Molecular Biology, and ECCB is it's European equivalent). She chairs poster and talk sessions, conducts workshops and organizes a special interest group aimed at the study of genomic variation — VarI-SIG.
Dr. Bromberg's work has been recognized by several awards, including the Hans-Fischer award for outstanding early career scientists and recognition for the top performance in the Critical Assessment of Genome Interpretation experiment. Dr. Bromberg serves as an editor and a reviewer of several top bioinformatics journals, including PLoS Computational Biology. She has been invited to give more than 35 talks. More information