I’m a recent graduate of Harris-Stowe State University in St. Louis, MO. During undergrad, my research focus investigated the neurological and epigenetic effects in Drosophila due to overconsumption of MSG. I joined the Opportunities in Genomic Research (OGR) Program at WashU looking to participate in a long history of reputable research and develop my skills as a researcher prior to my matriculation into a PhD program.
My research within the Mitra Lab investigates the colonic crypt. This particular crypt is home to colonic stem cells (CSC’s) that differentiate and give way to various mature cell types that form the colon. I am currently utilizing single cell sequencing (DNAseq, RNAseq, and ATACseq) to observe the role of potential regulatory genes that drive cellular proliferation within this specific tissue.
Titilope (Titi) Akinwe
I was born in Nigeria but I have lived in Georgia since the age of 3. I attended Georgia State University and obtained a bachelor’s degree in Neuroscience with a premedical concentration. I joined the OGR research program because I wanted to develop my skills further in translational bioinformatics and learn more about the field of genomics. Beyond bioinformatics, I believed the professional development offered from a top institution like WashU would be invaluable for preparing me for graduate school. I can say that these hopes were fully met, and I appreciate MGI’s goal to encourage collaboration. It aligns well with my interest in developing extensive professional networks in my future career as a physician-scientist. Overall, I plan to ensure the further dissemination of the knowledge and experience gained by this opportunity in research related to precision medicine.
It is widely known that de novo mutations, which are novel mutations in a single offspring, account for 30% of simplex Autism Spectrum Disorder (ASD) cases. There is evidence of de novo gene overlap between ASD and other neurodevelopmental disorders. Most of the emphasis thus far has been on likely gene-disruptive (LGD) de novo mutations because they are deleterious, and their phenotypes are usually more severe. Single nucleotide mutations, such as missense mutations, have not been as widely studied due to them being harder to find. Nonetheless, there have been efforts made to look at rare missense mutations in high-impact risk genes that occur in domains, because these mutations are more likely to have more influence on protein activity than those occurring outside of domains. However, the assumption that rare missense mutations of large effect will only occur in protein domains is potentially problematic. We might miss out on functionally important regions that occur outside of domains. My current research topic focuses on using the Clustering by Mutation Position (CLUMP) algorithm, which uses an unbiased method to generate clusters of mutations within a protein and a numeric representation of how clumped together mutations are within a cluster (CLUMP score). The algorithm makes no a priori assumptions about the importance of these positions in the context of protein domains or the number of clusters. After generating CLUMP results, we can then visualize the clusters and compare them to previously mapped biological domains and regions to determine the functional relevance of significantly clustered mutations.
Sydney R. Anderson
I am a recent graduate of the University of Pittsburgh’s Swanson School of Engineering where I earned a B.S. in Chemical Engineering with a minor in Chemistry. During my undergraduate studies, I was an active member of the National Society of Black Engineers, serving in the role of Finance Chairperson for Region II of the society. In this role, I coordinated and managed the career fair for the region’s Fall Regional Conference. I am passionate about helping my community and conducted several outreach projects during my studies. I was also involved in diversity initiatives within the Swanson School of Engineering. I have two years of research experience in drug delivery and loading at the nano- and micro-level, as well as with genetic research tracking mutations and variant analysis.
As part of this fellowship, I am working in the Silva-Fisher lab and I am focused on identifying differentially expressed lncRNAs in Multiple Myeloma single-cell sequencing data. The goal of this research is to determine what genes are unique to a healthy person in comparison to a person with various stages of Multiple Myeloma in an effort to develop a treatment for the disease. I will be attending graduate school in the Fall to pursue a Ph.D. in Biomedical Engineering. In my free time, I enjoy reading and cooking.
Irania Santaliz Moreno
My name is Irania and I am from Rincón, Puerto Rico. My undergraduate degree in Psychology is from the University of Puerto Rico, Mayagüez Campus. I joined the OGR program because I want to pursue a career in Genetics and Genetic Counseling as it is my passion. My goal is to achieve a translational approach between research and clinical counseling.
Currently I am part of the Brody Lab in where we study a rare genetic disease known as Primary Ciliary Dyskinesia (PCD). This is a commonly autosomal recessive disease that impairs motile cilia. PCD can occur in different organs but we are focusing on disease in the lungs. My project has to do specifically with how motor proteins are assembled for cilia beating.
I was born and raised in San Juan, Puerto Rico. I completed my bachelor’s degree in Integrative Biology at the University of Puerto Rico-Rio Piedras in 2018. After exploring different areas in biological research, I developed a deep interest in genetics and genomics. This led me to apply and join the Opportunities in Genomics Research Extensive Study Program in Fall 2020. I am working in Dr. Jason Weber’s lab of Molecular Oncology, where I am studying the mechanistic role of an RNA editing enzyme called ADAR1 in breast cancer. Thanks to the OGR program, I discovered my passion for understanding the genetic and molecular basis of diseases like cancer, with the goal of identifying potential therapeutic targets that can be exploited in therapy development. After completing the program, I plan to enroll in the Cancer Biology Ph.D. program at WashU in Fall 2021 and continue training to become an independent researcher.
In the lab, I am studying the mechanistic role of an enzyme called Adenosine Deaminase Acting on RNA 1, mostly known as ADAR1. This enzyme is known to edit double stranded RNAs (dsRNAs) in the cell. The lab has previously reported high expression of ADAR1 in several breast cancers, including Triple Negative Breast Cancers (TNBCs). TNBCs are known to be the deadliest form of breast cancer, and there are no targeted therapies available to treat it. To improve TNBCs prognoses, it is of importance to identify and understand genetic vulnerabilities that these cancers may possess. ADAR1 has been shown to be required for survival and proliferation of TNBCs, but not in non-TNBCs, which makes it a potential therapeutic target for these cases. Our goal is to better understand how and why TNBCs exhibit dependency on ADAR1 expression and translate this knowledge to therapy development.