Project 8p Research Newsletter - October 2023
💬 Research Question of the Month
Project 8p is looking for companies and researchers working on novel technologies for augmentative devices. How have augmentative devices helped your 8p hero? How do you imagine they could help? Do you know of any companies we should talk to?
🔬Research Highlight - The Project 8p Research Network
This month, we are highlighting more of the talented researchers who are a part of the Project 8p Research network. They each bring unique expertise and perspective to their fields and to chromosome 8p disorder research. You can find the first installation of this series in the September Newsletter on the Chromo 8p Substack.
Dr. Nicoleta Moisoi - Associate Professor in Pharmacology and Director of Leicester Institute for Pharmaceutical Innovation, Leicester School of Pharmacy, De Montfort University.
Dr. Moisoi is an expert in the field of mitochondrial homeostasis, a cellular process essential to healthy brain function (Savu and Moisoi 2022). Mitochondrial dysfunction is a hallmark of many neurodegenerative diseases, and Dr. Moisoi’s work has focused on elucidating the role of mitochondria and cellular stress signaling pathways in neurodegenerative diseases like Parkinson’s (Moisoi et al. 2014, Temelie, Savu, and Moisoi 2018, Temelie et al. 2023), using cell and animal models including Drosophila and mice. As a professor of pharmacology, Dr. Moisoi brings to the 8p research network valuable experience in identifying druggable pathways and a strong focus on translatability and therapeutic potential.
In collaboration with Project 8p, Dr. Marta Domínguez-Prieto, a postdoctoral research fellow in Dr. Moisoi’s lab, has characterized mitochondrial function and cytological features of fibroblasts from 8p heroes (Skin deep - Project 8p Substack). The work they have done will serve as the basis for the first high-throughput drug-repurposing screen for chromosome 8p disorders. Ongoing work in the Moisoi lab is looking at the function of DNA damage and repair pathways in 8p cells. Mitochondrial signaling plays an important role in responding to genotoxic stress, and when impaired, leads to the accumulation of DNA damage, which can harm cell function. This work will determine whether accumulation of DNA damage in 8p cells might be contributing to abnormal neuronal function.
Dr. Moisoi was named a Junior Associate of the International Centre for Theoretical Physics, Trieste Italy and a Royal Society/NATO Postdoctoral Fellow. Her research has been funded by groups such as the Michael J Fox Foundation.
Learn more about Dr. Moisoi’s research:
Phenotyping of Mitochondrial Dysfunction and DNA Damage and Repair in Chromosome 8p Disorder (Project 8p Research Roundtable - May 2022)
Mitochondrial Dysfunction and DNA Damage Repair in 8p Fibroblasts (Project 8p Research Roundtable - January 2023)
Dr. Hiruy Meharena - Assistant Professor, Department of Neurobiology and Molecular Biology, University of California, San Diego.
Dr. Meharena completed his postdoctoral training in the lab of Dr. Li-Huei Tsai at MIT. It was there he began studying memory formation, neurodegeneration, and Trisomy 21 using cutting edge genomics and imaging techniques to peek into the nucleus (Marco et al. 2020). In an important finding, Dr. Meharena discovered that trisomy 21 induces features of cellular senescence in neural progenitor cells, which could serve as a therapeutic intervention point (Meharena et al. 2022). Now, his lab at UCSD applies these techniques to iPSC-derived 2D and 3D models of the brain to understand how genomic imbalance gives rise to neurodegeneration and intellectual disabilities (Watson and Meharena 2023).
Dr. Meharena’s experience studying Trisomy 21 serves as a valuable foundation for the study of chromosome 8p disorders. Currently, his lab is studying neural progenitor cells derived from the iPSCs of 8p heroes in order to identify cellular and molecular phenotypes, and whether they might be similar to those of trisomy 21 and other copy number variants. These phenotypes could be used for high throughput screening and inform possible therapeutic interventions, and will provide insights into the molecular underpinnings of 8p disorders.
Dr. Meharena is a recipient of the Massachusetts Institute of Technology (MIT) Infinite Expansion Award, and has been named an Alana Down syndrome Center (ADSC) Fellow, Rising STAR in Biomedical Sciences Fellow, UNCF/Merck Fellow, Massachusetts Institute of Technology (MIT) Impact Fellow, and Burroughs Wellcome Fund PDEP Fellow.
Learn more about Dr. Meharena’s research:
The Developmental and Cognitive Genomics Research Group at UCSD
Exploring the Molecular Etiology Underlying Neurodevelopmental & Cognitive Features of 8p Disorders (Project 8p Research Roundtable, October 2022)
Provocative New Findings Suggest Surprising Cause of Down Syndrome (STAT news, January 2022)
💜 Family Corner
Mark your calendars for the Family and Science Conference in Denver, Colorado from July 31 to August 3. Save the date and get ready for an inspiring gathering of knowledge and community.
📆 Upcoming Events
8p Research Roundtable, October 23rd, 1:30 PM EST. Email whitney@perlara.com if you would like to attend.