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Absolute Gene-ius

Author: Jordan Ruggieri, Christina Bouwens

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Inspiring stories and advice from dPCR gene-iuses.
31 Episodes
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HIV, superbugs, and standards—oh my! In this episode of Absolute Gene-ius, we explore the frontier of infectious disease research with Dr. Jesús Mingorance, researcher at Hospital Universitario La Paz in Madrid. His research is translational and uses digital PCR, qPCR, sequencing, and more.Dr. Mingorance walks us through his application of ultra-sensitive PCR methods to track HIV-2 viral loads—particularly in challenging cases where standard assays fall short. He shares how digital PCR enabled detection in samples where conventional tests failed, and how it's becoming essential for assay calibration and microbial quantification. He also dives into the endemic challenges of carbapenem-resistant Klebsiella pneumoniae in hospitals, revealing the clinical and epidemiological importance of quantifying pathogen load within the microbiome.In the career corner, Dr. Mingorance recounts his unconventional journey—from humanities student to biologist inspired by a single sentence about DNA. With humor and honesty, he reflects on the patience needed in science, the value of good questions, and the importance of mentoring new scientists. “Biology is beautiful,” he reminds us. We agree.Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Can you detect Alzheimer’s with a spit sample? That’s the question driving Arianna Arbona’s exciting research at Universidad Pablo de Olavide in Sevilla, Spain. In this episode of Absolute Gene-ius, she shares how she’s isolating microvesicles from saliva and blood to identify early biomarkers for neurodegenerative diseases like Alzheimer’s—an effort that could one day lead to minimally invasive diagnostic tools.Arianna describes the scientific and technical hurdles she’s overcoming, from low vesicle concentrations to validating the brain-specific origin of those vesicles. She also reflects on her previous lupus research, where digital PCR enabled detection of faint mRNA signatures that qPCR missed—making it an essential tool for rare target quantification. Her future plans include integrating immuno-PCR and multiplex assays for more sensitive and multi-marker detection in Alzheimer’s and beyond.In the career corner, Arianna recounts her journey from the Canary Islands to Helsinki to Sevilla, balancing passion, mentorship, and a healthy sense of humor. She talks about working through uncertainty after her master’s degree, the mentors who kept her smiling, and how an early accidents taught her resilience. Her message to aspiring scientists: follow your curiosity and don’t be afraid to change direction.Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
This episode of Absolute Gene-ius slithers into the surprising science of invasive species monitoring with Dr. Brian Bahder. A childhood love of bugs led Brian to a dynamic career in entomology and plant pathology—and eventually to tracking large reptiles in the swamps of Florida.We dive deep into Brian’s work developing multiplex digital PCR assays to detect DNA from snakes, caimans, and other invasive species using environmental samples like soil and water. He explains how this technology enables detection even after the animals are gone, and how sampling strategy, environmental variables, and experimental design are critical to getting reliable data. He also compares qPCR and digital PCR, emphasizing how each has its place depending on sensitivity, speed, and sample complexity.In the career corner, Brian shares how his academic journey was shaped by travel, risk-taking, and a healthy dose of failure. From surfing and skateboarding to discovering new species and running a diagnostic clinic, his path reminds us that science thrives on curiosity—and that even mistakenly detecting your own DNA can teach you something.Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
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. 
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. 
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. 
Season 2 of Absolute Gene-ius comes to a close with a look back at the topics and inspiring conversations that have defined the series. From exploring innovative uses of digital PCR to uncovering its synergy with other molecular tools, this season was packed with insights for scientists at all levels.Dive into the details as co-hosts Jordan Ruggieri and Christina Bouwens revisit memorable episodes, including using dPCR as a low-cost precursor to single-cell sequencing and its role in quantifying active mRNA in groundbreaking drug development. Hear from experts like Parker Wilson, Christian Cobaugh, and Raquel Munoz, who share how digital PCR is revolutionizing their workflows and complementing other tools like qPCR and NGS.Of course, it wouldn’t be Absolute Gene-ius without a few puns! Stick around for some lighthearted banter as Jordan and Christina celebrate the season’s success, share their favorite moments, and hint at what’s coming in Season 3. Stay curious, and we’ll see you next cycle!Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
The statistics of Poisson distributions can seem complex at first but are simpler than you think, which is important to know given their relevance to digital PCR. In short, they dictate the confidence you can have in the absolute quantification provided by dPCR. Dr. Dave Bauer, Thermo Fisher Scientific’s very own dPCR Product Applications Specialist and statistics whiz, joins us once again for this short-but-sweet episode that’s a must hear for those working with rare, or low-abundance PCR targets. Dave and the hosts talk about applications like cancer research where these types of samples are common, and then get into the details of how the Applied Biosystems QuantStudio Absolute Q Digital PCR System works to provide elegantly simple technologies like false positive rejection, background subtraction, low dead volume microfluidic array plates, and a master mix with chamber loading dye. Join us to learn what each of these are all about and how they help to provide confidence and reliability in results that matter for your precious samples. Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Same may think of the pathologist’s toolbox as only the microscope and their eyes, but in reality today’s pathologists are using more and more molecular methods like NGS and PCR in additional to their traditional tools. Meet Parker Wilson, MD, PhD. Parker is a faculty member Perelman School of Medicine at the University of Pennsylvania, focused on using modern molecular tools to investigate chronic kidney disease. He explains his work phenomenally, both from the general aspects, all the way down to the molecular methods, which include digital PCR. We learn about chronic kidney disease and the interesting genetic mutations associated with it, which Parker and his team are finding, include chromosomal loss. For this application, we hear how dPCR is adept at quantifying chromosome ratios within tissues, and is able to help them spot variations of only a single percent or two. Our career corner portion uncovers an academic and career path with uncertainty and challenges one might not expect. Parker helps normalize these challenges and underscores the value of mentors in helping navigate them successfully. In the end, you have a phenomenally intelligent physician scientists sharing his exciting work and his insightful career development advice.Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Modern science, especially in the genetic and molecular biology spaces, generate vast amounts of data, and require vast amounts of data to be generated for thorough analysis. For example, finding a rare gene mutation such as BCR-ABL as a biomarker for chronic myeloid leukemia is like searching for a needle in a haystack. For a situation like this, dPCR is an ideal method, but high-throughput automation is also needed.Dr. Clarence Lee, Senior Product Manger at Thermo Fisher Scientific, tells how the QuantStudio™ Absolute Q™ AutoRun dPCR suite helps make the benefits of digital PCR available in an easy-to-use high-throughput system. The conversation covers how automation benefits are provided by MAP16 plates, system software, and the AutoRun plate hotel and loading robot. Clarence also talks about customer applications where he sees automation like this being applied to innovate and drive science forward. In the career corner portion, we learn about Clarence’s journey from chemist and biophysicist, to roles in industry and his current role as a product manager. He shares what he loves most about his job and what he’s most proud of over his career that has spanned several diverse roles. Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
The potential of mRNA medicines was postulated for years, but it took the COVID pandemic and emergency use authorizations for that potential to be demonstrated. By now, most of us have received at least one mRNA based vaccine and the platform has been mostly derisked. However, if you’re not one of the major players in this space, generating high-purity mRNA, let alone a GMP-grade mRNA-based drug product, can still be quite challenging. Dr. Chrisitan Cobaugh, CEO of Vernal Biosciences in Vermont, has been working in the mRNA field for more than a decade and is passionate about the potential of mRNA medicines. He’s also been in the field long enough to know firsthand the challenges of high-purity mRNA and lipid nanoparticle supply. Join us as Christian walks us through his story, the start of Vernal Biosciences, and their progress toward their mission of democratizing access to mRNA technology. Our conversation touches on the molecular biology of making mRNA, and the use of digital PCR and other methods in monitoring development and release of mRNA drug products, and the potential applications of mRNA as a platform (some of which you might not have guessed).Whether you’re new to the technology, or have chosen mRNA as a focus area, you’re sure to find this conversation engaging and intriguing, and our guest insightful. Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Viral vectors are a cornerstone of gene therapy and many employ experts in the viral vector services space to help design and produce their specialty vectors. These service providers are experts at making sure you get the vector you want with a titer and purity you need for your application. We’re joined in this episode by Dr. Cliff Froelich, Head of Analytical Development for a viral vector services provider. Cliff and his team work with AAV, lentivirus, and other vectors to support multiple, and simultaneous, client projects. Specifically, we dive into how they use various analytical and molecular methods to monitor and assess identity, strength, purity, impurities, potency, efficiency, empty/full ratios, safety, and more. As you might expect, it’s not a one-method-does-it-all approach or solution. Yes, digital PCR is in the mix here, and Cliff does a great job of outlining where it shines relative to the other methods they use regularly in their GMP practice. In our career corner portion, you’ll hear about Cliff’s circuitous career path, which includes stints in the poultry industry and time as a clinical dietitian. Through it all, and into his current role, Cliff brings a passion and genuine interest for the science and its potential to affect lives. Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Ch-ch-ch-ch-changes

Ch-ch-ch-ch-changes

2024-06-0511:13

When you have a good thing going you often want it to last forever, but we know that can never happen. Life and the world around us are fluid, dynamic, and we’re always finding the balance of fighting or harnessing entropy and inevitable change.As we encounter unexpected changes, we see them as chances to evaluate the foundations of our podcast's success while finding opportunities to evolve it and make it even better. Join us for a reflection of where we are, how we got here, and a sneak preview at what’s to come. We’re here to assure you, evolution is a good thing!
The fields of Cell and gene therapy are booming and poised to change the treatment and prevention of disease. These research areas require the transfer of genetic material to cells, and viral vectors are commonly used here. Specifically, adeno-associated virus (AAV) and lentiviral vectors (LVV) are vectors of choice. We’re joined for this episode by MinGin Kim and Kimberly Gomez, both scientists at Thermo Fisher. With backgrounds and expertise in the areas of cell and gene therapy, they help explain what all the excitement is about and how AAV and LVV are used. We hear about some of the challenges associated with viral vector work and get to hear about how digital PCR (dPCR) and good assay design are helping overcome many of these challenges to enable research and the biopharmaceutical industry. As you might expect from Absolute Gene-ius, you also get to hear their respective career path journeys and some really interesting lab stories.Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Organ transplantation is a modern marvel, with more than 157,000 solid organ, and more than 9,000 marrow and blood transplants occurring worldwide in 2022. Organ donor and recipient matching and compatibility screening has progressed significantly in recent decades as molecular methods have progressed rapidly to support this and other fields. Specifically, typing of human leukocyte antigens (HLAs) has expanded to consider ethnic population variation and cell free DNA (cfDNA) monitoring is now being used to monitor recipients for biomarkers that indicate organ rejection.  Our guest for this episode, Dr. Lee Ann Baxter-Lowe, Director of the HLA Laboratory at Children's Hospital Los Angeles has been working in the field of transplantation science for virtually her entire career. Join us for a great explanation of the science and a first-hand recounting of developing the assays, from decades ago, before thermal cyclers existed, to her cutting-edge work using digital PCR to progress the field even further. Lee Ann also shares very personal aspects of her career journey in her conversation with Cassie. This includes her describing the scientific “studies” of her and her cousin as children, her venturing into the world of HLA typing when it was emerging, and the role her family has played in her career, which gets personal quickly when she shares that her husband is currently dealing with a blood malignancy. Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Before the 1990s, small bits of RNA were considered junk by most, but the 1993 discovery of microRNA (miRNAs) began to reveal that bits of only 19-24 nucleotides of RNA can have an important gene regulation function in cells. Since their discovery, there has been a flurry of work to catalog known miRNAs and understand their functions, which include being tied to specific disease states such as leukemia. According to our guest, Dr. Guy Novotny, Molecular Biologist at Herlev Hospital in Copenhagen, it’s now relatively easy to identify a miRNAs and follow their expression, but to figure out what they’re actually doing is a real challenge. We hear how he and his team have recently adopted digital PCR, and the benefits that come with it, to study microRNAs and figure out what proteins they’re regulating the expression of. This includes basic research, where Guy is “adding to the big pile of data that’s existing out there,” and he also does clinical research that has a closer connection to specific disease states and subject outcomes. As always, you’ll get to learn about his career journey and learn that there’s really not much that cake cannot fix.Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Designing a successful PCR assay is all about selecting the right primers to deliver the sensitivity and selectivity for which PCR is known for. But anyone that’s designed an assay themselves will know that doing so successfully is a lot harder it sounds. We’re joined by two PCR assay design pros for this episode. Kimi Soohoo Ong, and Dr. Rounak Feigelman, both from Thermo Fisher Scientific, shine a light on the many factors that must be considered to design a winning PCR assay. From the level of fragmentation of nucleic acids in the sample, to what other species’ genomes that may be present in the sample, to what the sample matrix may contain, to the PCR master mix being used, if multiplexing is required, to what assay controls will be, and more!  These two practiced bioinformaticians cover these challenges and then tell us how their team overcomes challenges to develop winning assays for both qPCR and dPCR applications. Our conversation uncovers the level of skill and artistry that goes into this craft. As always, you get to learn a bit more about our guests’ backgrounds and career paths in the Cassie’s Career Corner portion of the interview. They share how they both chose a bioinformatics path over wet lab work, while also acknowledging how important the wet lab work is to what they do. They also share some great advice and resources for anyone looking to explore a career in bioinformatics. Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Blood is a symbol of life, which makes sense given that it plays such an important role in so many body functions, including our immune system. Blood makes up approximately 8% of your normal body weight and unfortunately, cancers of the blood, including lymphoma and leukemia, account for ~10% of all diagnosed cancers in the U.S. each year.  CAR-T cell therapy has emerged as a promising method to engineer a subject’s own immune cells to fight bloodborne cancer. Our guest for this episode, Raquel Munoz from the Hospital Universitario Virgen del Rocío in Seville Spain, is doing research in this exciting CAR-T cell therapy space. Specifically, she is working to develop methods to help better quantify and understand the expansion of CAR-T cells in the body to help monitor treatment and predict outcomes.  We learn about why digital PCR was selected for her work and how it’s helped raise confidence in the results they’re getting. We even hear about how she believes this treatment will find success in treating solid tumor cancers.In Cassie’s career corner, we learn how Raquel found her career path and love of immunology and working in a hospital setting. Raquel also shares some great career advice, stories of lab mishaps, and the dangerous hobby that she says is some of the only time she’s not thinking about work or problems. Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
We are all the product of a reproductive process, yet reproductive biology, or the study of the processes and mechanisms involved in reproduction, is not well understood. Deepening our understanding of reproductive biology is crucial to advancing assistive reproductive technologies (ART) and advancing our collective comprehension of inheritance and evolution. Our guests for this episode are a couple, and we mean a literal married couple, of reproductive biology experts. Dr. Pavla Brachova and Dr. Nehemiah Alvarez, both working in the Eastern Virginia Medical School’s Department of Physiological Sciences. In their collaborative work they aim to better understand and characterize the role of RNA and cellular events that impact ovarian function in women. We learn about their work with oocytes, which are single cells that grow and mature within the ovary and once fertilized provide the foundations of an embryo capable of maturing to a new individual. They outline how they use digital PCR (dPCR) and other methods to monitor RNA regulation in single cells and how progressing this work and lead to potential RNA-based therapies. In Cassie’s career corner we hear childhood stories from each guest and learn about their respective career paths, which eventually collided and merged. They share insights on the importance of having mentors experienced in your field, the challenges of shared job searching, and the joys of collaborating as a couple with shared scientific interests.Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System. 
Welcome back Gene-iuses!  Jordan and Cassie kick us off with a fun teaser of what’s to come in Season 2 of the Absolute Gene-ius series.   We’ll be featuring another great season of interesting guests, all using dPCR to progress their diverse research applications. This includes conversations about reproductive biology, liquid biopsy and transplantation research, CAR-T research, the role of bioinformatics in PCR assay design, micro-RNA analysis, differential gene expression analysis, and of course Cassie’s Career Corner, where we get to learn about people behind the science.   This teaser, like every episode of Absolute Gene-ius, has the fun baked in to keep it all light and interesting too.  You might even hear some digital PCR jokes!  Visit the Absolute Gene-ius page to access the entire first season and to learn more about the hosts and the Applied Biosystems QuantStudio Absolute Q Digital PCR System.  
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