Absolute Gene-ius Podcast Por Jordan Ruggieri Christina Bouwens arte de portada

Absolute Gene-ius

Absolute Gene-ius

De: Jordan Ruggieri Christina Bouwens
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Inspiring stories and advice from dPCR gene-iuses.2024 Thermo Fisher Scientific Ciencia Ciencias Biológicas Historia Natural Naturaleza y Ecología Química
Episodios
  • Life finds a way – copy number variation and drug metabolism
    May 21 2025

    Ever thought about why medications work differently for different people? In this episode of Absolute Gene-ius, we explore the exciting field of pharmacogenomics with Wendy Wang, pharmacogenetic laboratory supervisor at Children's Mercy Hospital in Kansas City. Wendy shares how genetics can influence drug metabolism, offering a glimpse into how precision medicine can revolutionize healthcare by tailoring treatments based on an individual's unique genetic makeup.

    At the heart of Wendy’s research is CYP2D6, a cytochrome P450 enzyme responsible for metabolizing around 20% of all prescribed medications. She explains how her lab uses digital PCR to analyze copy number variations (CNV), offering a reliable and precise method to predict drug metabolism. Wendy dives into the complexities of structural variants, the role of digital PCR in enhancing assay efficiency, and why pharmacogenomics is a critical piece of the precision medicine puzzle. Her use of delightful metaphors—like comparing genetic testing to ladling soup—makes complex science both relatable and engaging.

    In the Career Corner, Wendy opens up about her winding path to molecular biology, which included studying classical antiquity and nearly pursuing a career in history. She emphasizes the importance of resilience in research, embracing failure as a learning opportunity, and encourages budding scientists to reach out to mentors and explore diverse interests. Plus, hear about her most embarrassing lab mishap (hint: it involves a fire alarm) and the proud moment of publishing her first, first-author paper.

    Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System.

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    36 m
  • Unlocking cancer’s genetic secrets with digital PCR
    Apr 16 2025

    Scientific discovery happens in the lab—but it starts with curiosity and determination. In this episode of Absolute Gene-ius, we welcome Valeria Rangel, a PhD candidate at the University of California Irvine, who shares her research on acute lymphoblastic leukemia and the innovative ways digital PCR is helping uncover genetic patterns linked to cancer in Hispanic populations.

    Val’s work focuses on Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia, a rare and aggressive form of cancer. She explains how her lab uses digital PCR to detect mutations with high precision, identify risk factors in certain populations, and even validate findings using CRISPR-Cas9 gene editing. Through her research, Val sheds light on the role of SNPs, methylation patterns, and translocations in leukemia progression—demonstrating how digital PCR is transforming the way we approach cancer research.

    Beyond the science, Val takes us on her personal journey, from struggling to break into research due to financial barriers to finding her passion in oncology. In this episode’s Career Corner, she shares valuable advice for aspiring scientists, tips for landing research opportunities, and some of her most hilarious and humbling lab moments (yes, she has broken multiple pipettes).

    Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System.

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    33 m
  • CRISPR, dPCR, and pigs – a cut above the rest
    Mar 19 2025

    In this episode of Absolute Gene-ius, Dr. C. Dustin Rubinstein takes us inside the world of advanced genome editing, where cutting-edge tools like CRISPR and digital PCR are helping shape the future of biomedical research.

    As the Director of the Advanced Genome Editing Laboratory at the University of Wisconsin-Madison, Dr. Rubinstein shares how his lab develops genetically engineered pig models to study diseases like neurofibromatosis and cancer, providing researchers with more clinically relevant models than traditional small animals. He explains how digital PCR plays a crucial role in confirming genome edits with absolute precision, eliminating the ambiguity that often comes with qPCR and sequencing alone. The discussion dives into the advantages of dPCR for copy number variation analysis and gene editing confirmation, emphasizing the importance of multiple complementary technologies in modern molecular biology.

    Beyond the science, Dr. Rubinstein reflects on his career path, the value of mentors, and the unpredictable nature of scientific discovery. He also joins in on some lighthearted lab humor and shares his most embarrassing (and proudest) moments in research. Tune in for an insightful and entertaining look at the intersection of gene editing, career evolution, and the future of molecular biology.

    Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System.

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    34 m
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