DNA Today: A Genetics Podcast

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey.

 

In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades.

 

Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries.

 

Together, we discuss:

How rare disease care in Brazil compares to the U.S.

Why whole genome sequencing is a game changer for undiagnosed patients

Lessons learned from national-scale genomics initiatives

The role of public–private partnerships in sustaining innovation

What the future holds for rare disease diagnostics worldwide

Relevant Resources: 

MGI Tech

MGI’s Sequencing Platforms 

NeoGenomica

NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses.

100,000 Genomes Project by Genomics England

Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582

Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637.

 

Relevant DNA Today Podcast Episode:
#285 AI To Enhance Variant Curation with Daniel Uribe

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI 

#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI

 

Connect With Us: 
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab. 

 

This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only.

 

To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link!  Don’t miss all the episodes this season! 

 

In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster? 

 

Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only.

 

 

Episode Discussion Topics:

The importance of clear definitions: functional vs. complete cures

Why developing universal medical cures is incredibly complex 

The role of clinical trials in developing potential medical cures

How AbbVie’s Pathway to Cures program fosters collaboration and innovation

The transformative impact of precision medicine and reverse translation

How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies

The emotional and practical significance of potential medical cures for patients and scientists

Relevant Resources: 

Listen to The Persistence Lab

AbbVie: Pathway to Cures

AbbVie: Can We Find Cures Faster Article

AbbVie: AI & Data Convergence

 

Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution.

In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever. 

Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms.

This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined.

Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations.

The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world.

 

Topics Discussed In This Episode:

An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species

Exploration of natural selection and Darwin’s enduring influence on modern biology

How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories

The role of horizontal gene transfer in microbial evolution and its significance

Highlights from Connecticut’s 2026 Darwin Day celebration

Charles Darwin’s “entangled bank” and its relevance today

What Darwin got right—and what modern science has updated

Natural selection at the gene level vs. organism level

Why evolution isn’t always gradual: rapid change and hybridization

Horizontal vs. vertical gene transfer explained

How viruses, bacteria, and other mechanisms move genes across species

The role of horizontal gene transfer in microbial evolution

Real-world implications for medicine, antibiotic resistance, and biotechnology

How curiosity and early inspiration shape scientific careers

The importance of science communication and public engagement

 

About Our Guest:
Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering.

 

About the Event:
This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. 

Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website. 
 

Relevant Resources: 

Gogarten Lab at The University of Connecticut

Dr. Johann Peter Gogarten’s LinkedIn Page

“Charles Darwin: History’s Most Famous Biologist” via Natural History Museum 

International Darwin Day Foundation 

The Connecticut Darwin Day website

Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut

HFFC’s Podcast, Humanism Today

Relevant DNA Today Podcast Episode:

#100 Carl Zimmer on Human Heredity 

#134 Dr. Kat Arney on Cancer Evolution

#335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution

Gene Pool Media: The Science Podcast Network:

DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

Humanism Today
RealPharma

Beyond The Thesis with Papa PhD

DNA Dialogues

It Happened To Me

All Access DNA

#ThroughTheGenes

Demystifying Genetics

PhenoTips Speaker Series 

Parálisis Cerebral Respuestas

Gods and Genes

Rare Rebels

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels. 

 

The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change.

 

The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work. 

 

In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives. 

 

In This Episode: 

 

Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I

Being told “nothing can be done” and choosing to challenge that narrative

Navigating rare disease advocacy before the internet, social media, or established drug development pathways

Teaching himself medical and scientific concepts without formal training

Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach

Building a nonprofit organization from the ground up to support research and families

The fragmented healthcare and research system rare disease families faced in the 1990s

The critical role of relationships in advancing rare disease research

Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress

Bridging families, clinicians, and researchers to accelerate treatment development

The path to developing the first treatment for MPS I

How one family’s advocacy changed outcomes for future patients

Parents as drivers of innovation in rare disease

Persistence, collaboration, and problem-solving in the absence of clear systems

Enduring lessons for today’s rare disease community and advocates

 

Gene Pool Media: The Science Podcast Network:

Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

RealPharma

Beyond The Thesis with Papa PhD

DNA Dialogues

It Happened To Me

All Access DNA

#ThroughTheGenes

Demystifying Genetics

PhenoTips Speaker Series 

Parálisis Cerebral Respuestas

Humanism Today

Gods and Genes

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

Relevant Resources: 

Rare Rebels Website

Rare Rebels on Spotify

Rare Rebels on Apple Podcasts 

MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page

Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page

Gene Reviews’ Mucopolysaccharidosis Type I Page

Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I

The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)

National Organization For Rare Disorders (NORD)

EveryLife Foundation For Rare Diseases

Relevant DNA Today Podcast Episode:

#171 Farber Disease with Aceragen (also a lysosomal storage disorder) 

#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)

#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder) 

#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact.

In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation.

Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use.

Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality.

In This Episode, We Discuss
Setting the Stage: IPATIMUP’s Role in Oncology

How IPATIMUP fits into Europe’s oncology landscape

Why a research-driven approach is central to its diagnostic mission

From Research to Routine Diagnostics

Translating research findings into clinical workflows

Balancing innovation with responsibility in patient-facing diagnostics

Choosing the Right Technology Partner

Why IPATIMUP selected MGI sequencing platforms

What differentiates MGI’s technology in oncology applications

The importance of flexibility across DNA and RNA testing

Why long-term technical collaboration matters beyond installation

Large Gene Panels in Clinical Practice

How Gene+ selected the 1,021 genes included in its oncology panel

Real-world experience using large DNA and RNA panels in routine diagnostics

Why the Gene+ panel pairs effectively with MGI’s sequencing platforms

What it takes to move from validation to clinical implementation

RNA Sequencing as a Diagnostic Advantage

How RNA sequencing complements DNA-based testing in oncology

When RNA sequencing provides the most clinical value

How RNA data can increase diagnostic confidence in complex cases

Automation, Scale, and Quality

Why automation is essential for high-throughput oncology labs

Reducing hands-on time and minimizing human error

Practical advice for labs looking to scale while maintaining consistency and quality

 

Relevant Resources: 

IPATIMUP

MGI Tech

MGI’s Sequencing Platforms 

Gene+ (Website currently under construction)

 

Relevant DNA Today Podcast Episode:
#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].