VARIANT EFFECTS SEMINAR SERIES (VESS)

Mustafa Tekpinar earned his PhD in Physics from the University at Buffalo and completed two postdoctoral fellowships in France—one at the Institut Pasteur and the other at Sorbonne University, where he focused on studying the pathogenicity of variants in the MEFV gene. He is currently an associate professor at Van Yüzüncü Yıl University in Turkey.

Tim is a graduate student in the lab of Nicholas Wu at the University of Illinois Urbana-Champaign. He studies adaptive immune responses to rapidly evolving antigens.

Shelby Hemker is a Postdoctoral Fellow at the University of Michigan and is funded by the American Cancer Society. Shelby's work in the Dr. Jacob Kitzman Laboratory has included development of a new functional assay to measure DNA damage repair by the adenine glycosylase MUTYH, of which the pre-print is available on bioRxiv. Other projects include assaying other DNA repair factors linked to inherited cancers. Shelby's previous research experiences include her PhD from the University of Pittsburgh, where she studied the effects of hypoxia and microRNAs on kidney development under the mentorship of Dr. Jacqueline Ho and her BS from Michigan State University, where she studied inherited genetic disease in dogs and cats in Dr. John Fyfe's Laboratory of Comparative Medical Genetics. She is finishing up her tenure as a postdoc and will soon enter the academic job market, looking for opportunities to build upon past experience to develop new assays to resolve unknowns about inherited disease.

Vahid completed his PhD in 2018 at the University of Edinburgh, specializing in RNA splicing. Since then, he has worked as a research fellow in Robert Semple’s and Greg Kudla’s lab at the same university. His research focuses on conducting MAVE studies with translational value. Currently, he is investigating three genes implicated in Parkinson’s disease. Today, he will present his latest work on the insulin receptor.

Julien is a PhD candidate in the Biological and Biomedical program at Harvard University. He is conducting his graduate work in the laboratory of Dr. Andrew Aguirre at Dana-Farber Cancer Institute and the Broad Institute. His research aims to understand response and resistance to RAS-targeted therapies in pancreatic cancer through large scale variant screens, single-cell RNAseq and genetically engineered models

Nurdan Kuru is currently a postdoctoral researcher in Siepel Lab at Cold Spring Harbor Laboratory. Previously, she was a postdoctoral researcher from 2021 to 2024 at Adebali Lab at Sabancı University, Turkey. Her talk will discuss her work at Adebali Lab, where she developed phylogeny-aware algorithms for variant effect prediction and coevolution. She holds BSc and MSc degrees in Mathematics and a PhD in Industrial Engineering. Her current research focuses on computational evolution and population genomics, specifically developing a multi-ancestry polygenic risk score prediction approach.

Ferdy is a resident in internal medicine with an interest in endocrinology. He has studied medicine in Rotterdam and has finished his PhD in the Erasmus Medical Center, focusing on understanding pathophysiology and clinical presentation of patients with rare thyroid hormone signalling diseases, particularly MCT8 deficiency, and on developing and evaluating novel therapies for these rare diseases. He is getting enthusiastic about enhancing understanding of complex pathophysiology and applying this to help patients in a bench to bedside translational manner.

Jonuelle (Jon) Acosta is a postdoctoral fellow at MIT co-mentored by Francisco Sánchez-Rivera and Michael Hemann. He completed his PhD at the University of Pennsylvania in David Feldser's laboratory, where he utilized tractable mouse models of cancer to model the impact of p53 restorative therapies in small cell carcinoma.  As an F31 predoctoral fellow,  he identified novel context-dependent mechanisms of p53-mediated tumor suppression that may be utilized to develop novel strategies to treat this aggressive cancer subtype, and others. During his postdoctoral work, he is integrating next-generation genome editing technology with complex ex vivo and in vivo platforms to understand how cellular context influences genetic interactions, and its impact on cancer progression and evolution.