Podcasts about genetic modifiers

In this insightful episode of Research Renaissance, host Deborah Westphal engages in an enlightening conversation with Dr. Zhe Zhang, a research associate at Johns Hopkins and a 2021 Toffler Scholar. Dr. Zhang discusses her journey from aspiring to be a doctor to becoming a dedicated researcher focused on neurodegenerative diseases, particularly ALS. She shares her innovative work on establishing a platform to find genetic modifiers that can improve cell survival and slow the progression of ALS.Key Discussion Points:Introduction to Dr. Zhe Zhang:Background and inspiration for pursuing research in neurodegenerative diseases.Transition from clinical practice to basic research.Journey to ALS Research:Initial interest sparked by experiences with neurodegenerative patients during medical training.Shift in focus during her time in Australia, influenced by collaborations and the Ice Bucket Challenge.Focus on Genetic Modifiers and ALS:Explanation of familial and sporadic ALS, with a focus on the C9ORF72 gene mutation.Development of toxic proteins from gene mutations and their impact on cell survival.Research Techniques and Platforms:Use of CRISPR technology for genetic screening and identifying potential therapeutic targets.Application of human induced pluripotent stem cells (iPSCs) to develop models for screening.Collaborative Efforts:Importance of interdisciplinary collaborations with other researchers and biobanks.Contributions from patient-donated post-mortem tissues to validate research findings.Challenges and Future Directions:The complexity of translating basic research to clinical applications and commercial products.The role of CRISPR in gene editing and its potential for therapeutic interventions.Emerging Technologies and Tools:The impact of iPSCs, CRISPR, and advanced imaging techniques on ALS research.Potential of functional MRI and other non-invasive methods for tracking disease progression.Global Collaboration and Impact:The necessity of global studies and collaborations to understand neurodegenerative diseases.Hopes for future research, including the development of effective therapies for ALS.Personal Reflections and Advice:Dr. Zhang's commitment to staying curious, passionate, and cautious in her research.Encouragement for young researchers to persevere despite challenges and to collaborate widely.Join us in advancing our understanding of the brain and addressing its ailments. Until then, onward and upward!To learn more about the breakthroughs discussed in this episode and to support ongoing research, visit our website at tofflertrust.org. Technical Podcast Support by Jon Keur at Wayfare Recording Co.

BUFFALO, NY- October 25, 2023 – A new editorial perspective was published in Oncotarget's Volume 14 on March 24, 2023, entitled, “Genetic modifiers of p53: opportunities for breast cancer therapies.” Each day our cells encounter a wide range of genomic damage and the p53 protein arbitrates decisions of cell cycle arrest to allow repair of DNA or promote elimination of cells with malignant potential through apoptosis. In this new editorial perspective, researchers Prabin Dhangada Majhi, Aman Sharma and D. Joseph Jerry from the University of Massachusetts, Pioneer Valley Life Sciences Institute and Rays of Hope Center for Breast Cancer Research discuss TP53 mutations. The prevalence of TP53 mutations in nearly all tumors emphasizes its role as a formidable barrier that must be breached to allow oncogenic transformation. Inherited mutations in TP53 are also the primary genetic lesions found in Li-Fraumeni Syndrome (LFS), a familial cancer predisposition characterized by tumors in many tissues. However, tissues are not all equally vulnerable to disruptions in p53 function. Among women with inherited mutations in TP53, breast cancer is by far the most common tumor (Figure 1). Somatic mutations in TP53 are also prevalent in sporadic breast cancers, especially in the triple-negative subtype. The proportion rises to nearly 50% of breast cancers that exhibit impaired function of the p53 pathway based on gene expression signatures as a surrogate biomarker of p53 activity. Therefore, the breast epithelium appears to be uniquely sensitive to alterations in p53 function. “Genomewide association studies (GWAS) have identified over 300 polymorphisms that contribute to breast cancer risk [38–41]. These provide a rich resource of candidate polymorphisms that may modify the consequences of mutations in TP53.” DOI - https://doi.org/10.18632/oncotarget.28387 Correspondence to - D. Joseph Jerry - jjerry@vasci.umass.edu Sign up for free Altmetric alerts about this article - https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28387 Subscribe for free publication alerts from Oncotarget - https://www.oncotarget.com/subscribe/ Keywords - cancer, p53, Li-Fraumeni syndrome, genetic modifiers, breast cancer, DNA repair About Oncotarget Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science. To learn more about Oncotarget, please visit https://www.oncotarget.com and connect with us: SoundCloud - https://soundcloud.com/oncotarget Facebook - https://www.facebook.com/Oncotarget/ X - https://twitter.com/oncotarget Instagram - https://www.instagram.com/oncotargetjrnl/ YouTube - https://www.youtube.com/@OncotargetJournal LinkedIn - https://www.linkedin.com/company/oncotarget Pinterest - https://www.pinterest.com/oncotarget/ Reddit - https://www.reddit.com/user/Oncotarget/ Media Contact MEDIA@IMPACTJOURNALS.COM 18009220957

Dr. Rachel Harding, Dr. Leora Fox, and Dr. Sarah Hernandez join me to discuss genetic modifiers of HD.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.01.13.523980v1?rss=1 Authors: Reyes Gaido, O. E., Schole, K. L., Anderson, M. E., Luczak, E. D. Abstract: Ca2+ is a fundamental determinant of survival in living cells. Excessive intracellular Ca2+ causes cellular toxicity and death but the genetic pathways contributing to Ca2+ induced cell death are incompletely understood. Here, we performed genome-wide CRISPR knock-out screening in human cells challenged with the Ca2+ ionophore ionomycin and identified genes and pathways essential for cell death after Ca2+ overload. We discovered 115 protective gene knockouts, 33 of which are non-essential genes and 21 of which belong to the druggable genome. Notably, members of store operated Ca2+ entry (SOCE), very long-chain fatty acid synthesis, and SWItch/Sucrose Non-Fermentable (SWI/SNF) pathways provided marked protection against Ca2+ toxicity. These results reveal pathways previously unknown to mediate Ca2+-induced cell death and provide a resource for the development of pharmacotherapies against the sequelae of Ca2+ overload in disease. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Daniel O'Reilly Ph.D. is currently a Post-Doctoral Associate at Khvorova Lab, RNA Therapeutics Institute,University of Massachusetts Medical School, Worcester, MA.  Previously a Ph.D. student in Prof. Masad Damha's lab at McGill University in Montreal, Canada. Dan earned his MSc in Chemistry from the University of Southampton, UK.  It was there that he was first introduced to Nucleic Acid Chemistry in the laboratory of Prof. Jon Watts, working on the synthesis of peptide nucleic acid (PNA) monomers. Currently, his Ph.D. research focuses on utilizing chemical modifications to enhance the therapeutic effects of oligonucleotides by understanding nucleic acid structure. A research highlight has been probing the structural and chemical requirements for modification of the crRNA, in the CRISPR-Cas9 system. Creating a set of guidelines for chemical modification can lead to the development of novel highly modified crRNA for many applications. 

International Parkinson and Movement Disorder Society Movement Disorders Journal podcast September 2014

Paul Gordon MD of the Indian Health Service (HIS) talks about his latest results which suggest that ALS might be less common in Native Americans. His studies may one day help identify triggers of ALS and potential ways to fight the disease.

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