Day 2 Plenary Session
Recorded On: 11/16/2022
This session will feature 3 plenary talks presented at ASHG 2022. After each 15-minute talk there will be a 20-minute discussion session with additional panelists invited by the speaker, which will include answering questions from the audience.
Moderator: Erica Davis, PhD
- Endrina Mjuica, MD: Characterizing 54 type-2 diabetes candidate genes using CRISPR/Cas9, in vivo imaging and deep learning in zebrafish larvae
- Panelists: Marcel den Hoed (Group Leader), Christoph Metzendorf (Researcher), Eugenia Mazzaferro (PhD student)
- Scott Younger, MD, PhD: Rapid and scalable preclinical evaluation of personalized antisense
oligonucleotides using organoids derived from rare disease patients
- Panelists: None
- Yi Ding, MS: Polygenic score performance varies across the continuum of genetic ancestry in all
- Panelists: Bogdan Pasaniuc
Endrina Mujica, MD
PhD student at Marcel den Hoed's Lab
Endrina Mujica is a PhD student at Marcel den Hoed’s research lab at Uppsala University, Sweden. She obtained her under graduate medical training from the University of Zulia in her home town of Maracaibo, Venezuela. During her medical training, she performed genetic screens to characterize allelic variants associated to metabolic alterations as part of “The Maracaibo city metabolic syndrome prevalence study”. She was then awarded an Erasmus scholarship to pursue the International Master in Innovative Medicine, an Erasmus Joint Master degree. This included courses at both Uppsala University and University of Groningen. Currently, she is doing her PhD studies at Uppsala University at Marcel den Hoed’s lab. The lab is focused on characterizing candidate genes for metabolic diseases using in vivo imaging and deep learning in zebrafish larvae. They have developed systematic and large-scale screens for the study of diabetes, obesity, cardiovascular, non-alcoholic fatty liver and kidney disease. These efforts aim to improve our understanding of disease etiology and help prioritize genes for further in-depth characterization.
Scott Younger, MD, PhD
Director of Disease Gene Engineering
Children's Mercy Research Institute
Dr. Scott Younger is the Director of Disease Gene Engineering within the Genomic Medicine Center at Children's Mercy Kansas City. He has extensive experience working with high-throughput sequencing-based screening technologies and is leading efforts to dissect the molecular mechanisms through which rare genetic variants identified in patients at Children's Mercy lead to disease. Dr. Younger came to Children's Mercy from the Broad Institute of MIT and Harvard where his group worked on the development of CRISPR-based screening methods. He completed his postdoctoral studies at Harvard University as an American Cancer Society Fellow. He holds a Ph.D. in cell and molecular biology from UT Southwestern Medical Center. He also received an M.S. in biotechnology from the University of Texas at San Antonio and a B.S.I. in bioinformatics from Baylor University.
Yi Ding, MS
PhD candidate in Bioinformatics
Yi Ding is a fifth-year PhD student in Bioinformatics from UCLA advised by Dr. Bogdan Pasaniuc. She is interested in Bayesian Inference and the probabilistic modeling of complex genetic architecture. Currently, she is working with the UCLA-ATLAS Biobank to investigate the evaluation of individual-level polygenic score performance and the interpretation of polygenic scores across diverse genetic ancestries. Prior to UCLA, she obtained her Master’s degree in Biostatistics from Harvard T.H. Chan School of Public Health and her Bachelor’s degree in Biotechnology from Zhejiang University in China.