The Mind of a Worm in All Its Rich Complexity
William A. Mohler and members of the WormGUIDES consortium have used big data analysis tools (typically applied to functional genomic and proteomic studies) to discern hidden structures within the brain of the model organism C. elegans. (Read More..)
Student received the 2021 Milton B. Wallack Trainee Award for Excellence in Stem Cell Research
Dea’s research focuses on gaining a better understanding of how the interaction between UBE3A-ATS and UBE3A leads to imprinting of UBE3A on the paternal allele in chromosome 15q11-13 in order to learn more about Angelman syndrome (AS) and discover novel therapeutic options for these patients. AS is a neurodevelopmental disorder characterized by motor dysfunction, intellectual disability, severe seizures, absent speech, and a happy demeanor. AS is caused by loss of function from the maternally inherited allele of UBE3A. In most cell types, UBE3A is expressed from both the maternal and paternal alleles. In mature neurons, UBE3A is only expressed from the maternally-inherited allele. Thus, loss of function from the maternal allele leads to nearly complete loss of UBE3A RNA and protein. Imprinted (maternal-only) expression of UBE3A occurs because the paternal allele of UBE3A is silenced by a long non-coding antisense RNA, termed UBE3A-ATS. Activation of paternal UBE3A through the suppression of UBE3A-ATS transcription is a promising therapeutic strategy for AS, however the exact mechanism underlying UBE3A imprinting by UBE3A-ATS is not fully understood. This research uses patient-derived human iPSCs and their neural derivatives to carefully dissect the mechanisms by which UBE3A-ATS silences paternal UBE3A and how antisense oligonucleotides (ASOs) unsilence paternal UBE3A. (StemConn2021)
Faculty Receives R13 Award
Dr. Blanka Rogina’s MPI application received an R13 award from the National Institute of Aging. This award will defer the cost for the Biological Sciences Program of the Gerontological Society of America Annual Scientific Meeting, to be held in Phoenix, AZ, November 10-14, 2021. (More Information..)
Dr. Rogina leads the Biological Section Scientific Program workgroup of this meeting. The meeting will showcase the latest advancements in gerontological research. Congratulations Dr. Rogina!
DMD/PhD awarded “Best Lightning Talk”
Emma Wentworth Winchester, a DMD/PhD candidate in the lab of Dr. Justin Cotney, received the award for "Best Lightning Talk" at the 2021 Annual UConn Institute for Systems Genomics Networking Event in May.
Emma's research focuses on the role of the non-coding genome in craniofacial development and disease. This award was granted for her short talk about the role of cell type specific regulatory regions in the embryonic human face on orofacial clefting. The talk outlined the group's continuing efforts in profiling craniofacial specific enhancers active in the developing face, which they have previously shown are enriched for single nucleotide polymorphisms associated with normal facial variation and clefting. They performed single nucleus accessibility profiling (snATAC-seq) on Carnegie stage 17 (~6 weeks post conception) human craniofacial regions, resulting in the identification of 6 distinct cell types. Accessible regions of chromatin specific to each cell type were interrogated for enrichment of orofacial clefting-associated variants. It was found that epithelium-specific regions of accessible chromatin, which includes cell-type specific enhancers, were specifically enriched for clefting-associated variants in East Asian populations. With these results, the group is continuing to profile additional timepoints to uncover additional cell types for further interrogation of cell types and stages of development responsible for normal facial variation and clefting. Her other research interests include profiling the role of cell type specific regulatory regions in dental development and oral diseases, for which she has recently been awarded an F30 award from the NIH.