Genetics | Research Interests

Name	Email	PhD Program
Haendel, Melissa WEBSITE EMAIL PUBLICATIONS	PHD PROGRAM Bioinformatics & Computational Biology, Genetics & Molecular Biology RESEARCH INTEREST Bioinformatics, Developmental Biology, Developmental Disorders, Genetic Basis of Disease, Genetics, Human Subjects Research, Molecular Mechanisms of Disease, Translational Medicine	The Translational and Integrative Sciences Laboratory (TISLab) aims to weave together healthcare systems, basic science research, and patient generated data through development of data integration technologies and innovative data capture strategies. Our research focuses on the development of semantic technologies for data harmonization and analytics, such as ontologies, knowledge graphs, and data models. We leverage these semantic resources to standardize phenotypic information coming from clinical encounters, model and veterinary species, and directly from patients. As part of a longstanding international consortium called the Monarch Initiative, we utilize structured phenotype data to integrate of genotype-phenotype data across species to improve rare disease diagnosis, mechanism discovery, and to identify treatments. We work with a number of rare disease communities around the world with the goal of making our data standards available for everyone and translated into different languages so that everyone can have access to the same knowledge and have the same chance for a diagnosis. We are passionate about environmental health and understanding new ways of making environmental and nutrition data computable alongside clinical data. For example, we have integrated patient nutrition survey data together with basic research knowledge to reveal dietary risk factors of women’s reproductive disorders. We recently obtained funding to create an atlas for toxicological experiments and phenotypic outcomes in the zebrafish. TISLab has also recently created a veterinary One Health program, which focuses on understanding health influences affecting veterinary species together with their pet parents. During Covid, we led a national initiative to harmonize Electronic Health Record data to aid discovery analytics, called the National Covid Cohort Collaborative (N3C). The N3C is now the largest publicly available HIPAA-limited dataset in US history, and has ~5,000 users. We have studied long-Covid, advised the White House and governor’s offices, and have won the NIH/FASEB DataWorks! Grand prize for our work on N3C. We also lead the Center for Linkage and Aquisition of Data (CLAD) for the All of Us Research Program. The CLAD aims to link passive data streams such as insurance claims, mortality, and environmental data to program participants to provide a more comprehensive picture of their health trajectories. We have produced several global standards, such as the Human Phenotype Ontology, Phenopackets (Global Alliance for Genomics and Health and ISO certified), Mondo, and LinkML. We regularly attend the American Medical Informatics Association, the American Association of Human Genetics, the International Biocuration Society, and the Bioinformatics Open Source at ISMB conferences. TISLab members come from a wide variety of of scientific backgrounds and interests, making us effective partners in translational science and collaborative analytics.
Ulloa Avila, Tatiana EMAIL	PHD PROGRAM RESEARCH INTEREST Genetics, Genomics, Neurobiology	“I am interested in studying chromatin architecture and the role that it plays on gene regulation in the context of neurodegenerative and neuropsychiatric disorders. Moreover, I would like to generate an impact with my research by applying my findings to the area of therapeutics.”
Pires, Sabrina EMAIL	PHD PROGRAM RESEARCH INTEREST Gene Therapy, Genetics, Molecular Biology, Neurobiology, Translational Medicine	“Within neuroscience, I am most interested in gene therapy and translational research questions as opposed to basic science questions. I prefer to have access to a clinical population (not necessarily conduct research on this population) whether that be through clinic visits or actual clinical models. I am fine working with animals and am interested in how animal models can be translated to clinical models. I am open to outside of neuroscience such as blood diseases.”
Pappas, Matt EMAIL	PHD PROGRAM RESEARCH INTEREST Evolutionary Biology, Genetics	“I am interested in how genomes are shaped by selective pressures. I aim to study the evolution of advantageous protein-coding genes and systems that regulate gene expression.”
Norton, Jenna EMAIL	PHD PROGRAM RESEARCH INTEREST Cell Biology, Developmental Biology, Genetics	“My research experience has ranged from tropical ecology to identifying downstream effectors of collective cell migration, so, my interests are very broad. I am excited about how cells change shape and move and how this affects the whole animal. I am looking forward to learning more about how cells communicate with each other and furthering my scientific journey.”
McCarthy, Ben EMAIL	PHD PROGRAM RESEARCH INTEREST Cell Biology, Genetics, Molecular Biology	“I am interested in understanding the function of genes by studying the molecular interactions of their gene products and how these contribute to cellular and organismal health. I am also interested in mechanisms of gene regulation the dynamics of gene expression in response to internal and environmental cues. How genotype and phenotype are connected, and how gene expression responds to changes in the environment are broadly what I want to study. I would like to focus on discovering novel molecular mechanisms and ways of thinking about these basic biology concepts.”
Lee, Rachel EMAIL	PHD PROGRAM RESEARCH INTEREST Cancer Biology, Drug Discovery, Genetics, Molecular Biology	“I am interested in epigenetics and more specifically molecular mechanisms of disease. I want to enhance the knowledge that I gained in my previous research experience in an epigenetics and structural biology lab and transition into a lab that uses different techniques like CRISPR or genomic sequencing to look at the basic biology of what is happening in diseases such as cancer. I also have interests in drug design and drug discovery.”
Gillis, Meredith EMAIL	PHD PROGRAM RESEARCH INTEREST Cell Biology, Genetics, Pathology	“I’m interested in investigating the functional impacts of genetic variation of all kinds. My passion lies in understanding the cellular mechanisms that drive human disease and development – those related to cellular trafficking and signaling are of particular interest.”
Deal, Milena EMAIL	PHD PROGRAM RESEARCH INTEREST Bioinformatics, Genetics, Genomics	“I am interested in examining the heritability of complex disease using genomics. I want to use both bioinformatics and experimental techniques to work toward this goal. I have interest in other subject areas as well, such as microbiology, but do want to focus on labs that have computational PhD students.”
Chana, Naveen EMAIL	PHD PROGRAM RESEARCH INTEREST Cell Biology, Genetics, Plant Biology	“I’m broadly interested in plant cell biology and genetics. I’m also interested in the cytoskeleton in other organisms, particularly microtubule organization and dynamics.”

Research Interest: Genetics