RSS 1.0Smart-Health Student Research Symposium
Recent Submissions
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Privacy in Bioinformatics and Intelligent Healthcare(2022-11-10) [Poster]
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Predicting Regulatory and Phenotypic effects of non-coding variants(2022-11-10) [Poster]
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Elucidating the effect of novel gene mutations on neuronal development(2022-11-10) [Poster]The aim of the project is to explain the molecular mechanisms underlying the neurological symptoms that patients with specific mutations for Slk and Ola1 mutations have (causing complete knockdown of protein expression), such as intellectual disability and sensory phenotypes. This project consists of a collaboration between my PI Dr. Leena Ibrahim and the Professor of Human Genetics at the Alfaisal University, Dr. Fowzan Alkuraya. For each of the three mutations we have designed different experimental approaches. In order to simulate slk and ola1 mutations we are implementing CRISPR-Cas9 gene editing technologies in vitro using mouse cortical neuronal cultures. Similarly, to simulate these mutations in neurons, we received fibroblast samples from the affected clinical patients and with the use of a novel technology consisting of direct transdifferentiation from fibroblasts into neurons we will be able to convert patient s fibroblast cell lines and analyze them, morphologically and functionally. After successfully creating the mutated neuronal cell lines, our goal is to be able to analyze the functionality of different proteins that might be related to the SLK and OLA1. This will be done by the analysis of protein colocalization using immunocytochemistry and high-resolution bioimaging techniques. Together with this, we aim to investigate the physiological significance of these mutations at morphological and functional level. For this purpose we will be performing different tests to evaluate synaptic alterations happening in the knockdown and mutated cell lines using patch-clamp recordings. Up to date there is no information regarding the effects that OLA1 might have in the context of neurodevelopment. However, our recent findings point out that the protein could have a regulatory role through the modulation of pathways involved neurite outgrowth and migration due to its binding activity with HSP70 providing stability and longer lasting activity to this protein that has proven to be intrinsically related to neurodevelopmental processes.
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Thicker Ice Improves the Integrity and Angular Distribution of CDC48A(2022-11-10) [Poster]
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Modulation of the microhomology-mediated end-joining pathway suppresses large deletions and enhances homology-directed repair following CRISPR/Cas9-induced DNA breaks(2022-11-10) [Poster]CRISPR-Cas9, an efficient genome editing tool, has been widely used in research and holds great promise in the clinic. However, the large unintended rearrangements of genome after CRISPR-Cas9 editing occur frequently and their potential risk cannot be ignored. In this study, we detected large deletions (LDs) induced by Cas9 in human embryonic stem cells (hESCs) and found micro-homology end joining (MMEJ) repair pathway plays a predominant role in LD. We genetically targeted PARP1, RPA, PolQ and Lig3, which plays critical roles in MMEJ, during CRISPR-Cas9 editing. We found that knocking down PARP1 and Lig3 does not alter LD frequency, while knocking down or inhibiting PolQ dramatically reduces Cas9-induced LD frequency. Knocking down RPA increases LD frequency, and consistently, overexpression of RPAs reduces the frequency of LD. Interestingly, compared to only electroporating Cas9/sgRNA and ssDNA, inhibition of PolQ and delivering extra RPA proteins dramatically increase the homology-directed repair (HDR) efficiency. In conclusion, RPA and PolQ play opposite roles in Cas9-induced LD, modulation of PolQ and RPA proteins can reduce LD and improve HDR at the same time which holds a great promise to safe and precise genome editing.
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Your smartphone could act as a pulse-oximeter and as a single-lead ECG(2022-11-10) [Poster]
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Printed Wristband for Remote Skin Temperature Monitoring(2022-11-10) [Poster]
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Multiple Patient's Breathing and Heart Rate Monitoring Using 77GHz mm-Wave Radar(2022-11-10) [Poster]
