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DTSTART:20240926T160000Z
DTEND:20240926T170000Z
SUMMARY:2024-25 Health Sciences Seminar Series - Dr. Izabella Pena
DESCRIPTION:The Department of Health Sciences is pleased to announce the first seminar in our 2024-25 Health Sciences Seminar Series, and this event will be held in-person, with a virtual option via Zoom (see registration buttons below).


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Functional genomics and cell-type specific mitochondrial profiling to investigate rare diseases



 











Abstract



Mitochondria are widely known as the "powerhouse of the cell" as the site for cellular respiration and generation of ATP. However, none of these vital functions are possible without the presence of vitamins and cofactors, essential for bioenergetic enzymes. Vitamin B6 (pyridoxal 5’-phosphate, PLP) is one of such nutrients, necessary for the functioning of over 60 human metabolic enzymes, including reactions on heme and neurotransmitter biosynthesis. High-dose vitamin B6 is a treatment for B6-responsive disorders such as Pyridoxine-dependent epilepsy (PDE), alleviating seizures and enabling life. Despite its importance for human health, the factors that mediate PLP distribution, transport, homeostasis, and maintenance in different cellular compartments, especially in the mitochondria, are largely unknown. To address that, we employed a genome-wide CRISPRi screen and discovered a potential regulator of mitochondrial PLP. Loss-of-function of this gene is causal for a severe pediatric mitochondriopathy.. Here we will discuss the implications of genome screening technologies to discover novel mechanisms, potentially treatable disorders, and therapeutic targets.



 



Presenter







 



 



Dr. Izabella Pena, Scientist



CHEO-RI



Assistant Professor



University of Ottawa



Faculty of Medicine



Department of Cellular and Molecular Biology



 



 



 



 
LOCATION:3174 Mackenzie, ÐÓ°ÉÔ­´´ University, 1125 Colonel By Dr, Ottawa, ON K1S 5B6
URL:
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