In celebration of Charles Darwin’s birthday on February 12th, we gathered in-person with fellow science nerds to learn about evolution. 

In this special live episode of DNA Today, we’re sharing highlights from Connecticut’s 18th Annual Darwin Day Dinner, 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 held and recorded live at Connecticut’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+

 

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]. 

February 3rd, 2026 Update:

The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it).

 

January 30th, 2026 Update:

Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government.

The next step for the bill is to go back the U.S. House of Representatives for final passage.

Urge your representatives to pass this legislation, MDA made it easy to do so here. 

 

January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th. 

Urge your senators to pass this legislation, MDA made it easy to do so here. 

Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you! 

 

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What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment. 

 

We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University.

 

We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it. 

 

In This Episode, We Discuss

What’s Actually Happening With NIH Funding

• Why the phrase “NIH cuts” understates the real-world impact on patients and families
• What proposed reductions for Fiscal Year 2026 could mean for rare disease research
• How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials
  
  

Why Rare Disease Research Is Especially at Risk

• Why rare disease programs are more sensitive to funding instability than common conditions
• The difference between slowed progress and permanent loss for progressive neuromuscular diseases
• How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials
• What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge
  
  

Neuromuscular Disease Research in 2026

• Where neuromuscular research stands today and what breakthroughs are closest to patients
• Which types of studies are most vulnerable to funding cuts
• How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases
  
  

Policy Realities & Misconceptions

• How to explain to policymakers that cutting research now increases long-term healthcare costs later
• Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart”
  
  

Advocacy: What You Can Do Right Now

• The most effective actions for advocates engaging Capitol Hill today
• What makes a patient or family story resonate with lawmakers and staffers
• How collective advocacy protects not just future discoveries, but lives happening right now
  
  

Relevant Resources: 

Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026.  

• MDA Advocacy Landing Page
• MDA Advocacy Action Center
• Donate to MDA
• MDA's X Page
• MDA's Instagram Page
• Request MDA Services 
• We Work For Health 

 

Relevant DNA Today Podcast Episode:

• #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
• #327 How Patient Advocacy is Changing Rare Disease Research
• #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (including NIH changes with former NHGRI Director Dr. Eric Green)

 

Connect With Us: 

Usually we release new episodes on Friday, but since this was so timely we released it as a bonus episode. You can always count on us to deliver fresh content every Friday. 

While you wait, 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, 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].

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help?

In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life.

Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next.

We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care.

On This Episode We Discuss:

Aging in Place & Memory Care

• What families are most concerned about when trying to keep a loved one at home
• How memory-related illnesses change caregiving compared to physical limitations alone
• Common misconceptions about the progression of cognitive decline
• What “successful aging in place” realistically looks like
  
  

Medication Challenges in Older Adults

• Why polypharmacy is so common—and so risky—in later life
• How medications that once worked well can become problematic over time
• Real-world examples of unexpected medication reactions in individuals with memory changes
• Why older adults are especially vulnerable to side effects, particularly with cognitive impairment
  
  

Pharmacogenomics, Explained for Caregivers

• What pharmacogenomics (PGX) is and how to explain it to families in practical terms
• Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated
• How PGX may help prevent medication-related crises before they happen
  
  

PGX in Home-Based Memory Care

• How pharmacogenomics could reshape medication decisions for dementia care
• Medication categories that often raise red flags in older adults
• How genetic insights may help protect individuals who can’t clearly report side effects
  
  

Advocacy, Access & System Gaps

• Barriers families face when trying to access PGX-informed care
• How caregivers can request medication reviews without feeling confrontational
• Where healthcare systems often fall short of the realities families manage at home
  
  

Looking Ahead

• What it would mean to routinely integrate pharmacogenomics into elder care
• Michele’s key message for caregivers navigating medications, memory care, and aging in place
  
  

Our Guest: 

Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life.

Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true.

She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching.

Relevant Resources:
Need Health? 

UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds
ClinPGx

Sequence2Script

The PREPARE Study

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

Relevant Papers:

Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585.

 

van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271.

 

Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616.

Relevant DNA Today Podcast Episode:

#108 Dr. Becky Winslow on Pharmacogenomics

#174 Pharmacogenomics with Fulgent Genetics

#229 Pharmacogenomics with Avni Santani

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) 

#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (Talked about PGx with chemotherapy) 

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, 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, 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 Video Lead is Amanda Andreoli. 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].

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders.

Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families.

We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals. 

Topics Covered in This Episode

• What Fabry disease is and how it affects the body.
• The impact of Fabry’s X-linked inheritance on clinical presentation.
• Why the term “just a carrier” is misleading for females or people with two X chromosomes.
• Variability in disease expression among females and key clinical cases.
• Classic vs. later-onset Fabry phenotypes and diagnostic challenges.
• Common signs and symptoms that often go unrecognized.
• Barriers leading to delayed diagnosis and under-recognition.
• Benefits of early detection and cascade family screening.
• Managing variants of uncertain significance (VUS) in the GLA gene.
• Limits of genotype–phenotype correlations in Fabry disease.
• Psychosocial challenges for families living with a Fabry diagnosis.
• Advice for clinicians and genetic counselors evaluating potential Fabry patients.

Resources & Links

• The brand new website, FindingFabry.com has additional information and resources. 
• Amicus’ website here also has information about Fabry disease. 
• Patients’ stories about living with Fabry disease. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, 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 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is 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]. 

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives?

In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine.

We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact:

Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics.

Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified.

Topics Covered In This Episode: 

• The stories behind scientific breakthroughs and what fuels discovery
• How collaboration across disciplines accelerates innovation
• Translating genetic discoveries into real-world therapies
• The role of publishing and open science in driving progress
• How journals are adapting to promote transparency and reproducibility
• Advice for early-career researchers balancing ambition with sustainability
• The evolving landscape of global collaboration in science
• How AI and automation are transforming both research and publishing
• The ethics and equity considerations of AI-driven science
• The importance of representation and global voices in genomics

Key Takeaways

• True innovation thrives on collaboration—across labs, disciplines, and continents.
• Publishing isn’t the end of science; it’s a catalyst for connection and progress.
  Bridging basic discovery to clinical application requires persistence and shared purpose.
• Transparency, communication, and mentorship are essential to the next wave of breakthroughs.

Relevant Resources: 

• Wiley Advanced Portfolio 
• Wiley’s Journal Finder
• Genetics and Genomics: Advanced Science Collection 
• Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections
• Wiley's AI guidelines for Authors
• Wiley’s ExplanAItions 2025: The evolution of AI in research
• What Makes a Successful Submission Wiley Blog Post
• Eligibility for access to Research4Life 
• Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences
• Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

 

Relevant DNA Today Podcast Episode:

#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) 

 

Connect With Us: 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, 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, 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 Video Lead is Amanda Andreoli. 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]. 

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning? 

To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine. 

Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution.

 

On This Episode, We Discuss:

 

Setting the Stage: Rome’s Personal Journey

• How Rome entered the genetics and diagnostics space shortly after the Human Genome Project
• What motivates his continued work at the intersection of innovation, patients, and access
  
  
• Why confidence, curiosity, and communication matter in fast-changing scientific fields
  
  

The Early Era: Post–Human Genome Project

• What diagnostics felt like in the early 2000s
• Early pharmacogenomics and predicting chemotherapy response
• Barriers to adoption, including cost, infrastructure, and skepticism
  
  

The Growth Era: Expansion of Genetic Testing

• How cancer diagnostics and precision medicine began shaping standard care
• Shifts in how clinicians and patients talked about risk and prevention
• Lessons learned about equity, access, and unmet expectations
  
  

The Current Era: Precision Medicine Goes Mainstream

• What distinguishes today’s genetic testing landscape from earlier eras
• Ongoing challenges around affordability, access, and education
• The role of podcasts and science communication in empowering patients
  
  

Looking Ahead: The Next Era of Genetic Testing

• What might define the next wave: RNA, epigenomics, microbiome, multi-omics
• Where AI and advanced data analytics fit into future care models
• Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential
• Whether population-wide genetic testing could become routine in the years ahead

 

About the Guest

Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured.

 

Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare.

 

Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries.

Relevant Resources: 

• Genetics for Healthcare Podcast Hosted by Rome Madison 
• American Lung Association; EGFR and Lung Cancer 
• Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research
• Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale
• The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm
• National Comprehensive Cancer Network Guidelines 
• The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!)

 

Relevant DNA Today Podcast Episode:

• #145 Greenwood Genetic Center on Epigenetics
• #182 Eric Green on the Complete Human Genome Project 
• #358 AGBT Precision Health 2025 Meeting Recaps and Reflections
• #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice
• #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 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 Video Lead is Amanda Andreoli. 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].

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis. 

 

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

The Actors:

Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today.  

 

Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. 

 

Mock Session Information:

Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. 

Case Details:

The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing.

 

Patient Name: Liam Ventura 

Parent Names: Mary and Sam Ventura

 

Medical History:

• Pregnancy:
  • Uncomplicated
  • Full term (39 wks) via NSVD
  • No exposures or complications reported
  • Normal prenatal ultrasounds
• Newborn Screening:
  • Elevated immunoreactive trypsinogen (IRT)
  • Two CFTR variants identified on screening panel
• Development: Appropriate for age
• Growth: Slightly below weight percentile
• Symptoms: Mild cough, parents believe it’s due to the change of weather
• Specialists Seen: Pediatrician only so far
• Medications/Treatments: None currently
• Therapies: None currently
  
  

Family History:

• Ancestry: Dad- Irish  Mom- Af. American
• No consanguinity, birth defects, or known genetic conditions
• No history of cystic fibrosis or early infant deaths
• One paternal cousin with male infertility

 

Prior Carrier Results: 

• Dad- F508del Carrier 
• Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T 

 

Pediatric Mock Session Outline

 

Contracting

• Greetings and introductions
• Reason for referral to genetic counseling (positive newborn screening for CF)
• Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” 

 

• Address patient questions or concerns such as:
  • “What does this mean for our baby?”
  • “Does this mean he has cystic fibrosis?”
  • “Could this happen again in another pregnancy?”
  • “Did we do something to cause this?”
    
    

Medical Intake

• Review pregnancy and delivery history
• Review newborn history
• Review of systems with focus on:
  • Respiratory symptoms
  • Digestive symptoms and growth patterns
  • Frequency of infections
• Developmental milestones and any delays noted by parents
• Medications, supplements, or current therapies

 

Family History

• Construct a three-generation pedigree
• Ask about consanguinity, early childhood deaths, chronic respiratory or digestive issues, and male infertility
• Determine if any relatives have known carrier status for CF or other genetic conditions
  
  
  

Patient Education:

Overview of Genetics

• Explanation of autosomal recessive inheritance
• Each parent is likely a carrier of one CFTR gene variant
• With each pregnancy:
  • 25% chance for a child with CF
  • 50% chance to be a carrier
  • 25% chance to be unaffected and not a carrier

Cystic Fibrosis Overview

• Genetic condition that can affect the lungs and digestive system
• Caused by variants in the CFTR gene that affect how mucus and other secretions function
• Range of possible symptoms from mild to more significant depending on variants involved (explain variable expressivity)
  
  

Genetic Testing Discussion

• Both parents previously had carrier testing done, dad came back with a variant and mom did not. 
• Testing options: 
  • CFTR gene sequencing and deletion/duplication analysis for mom: c.1675G>A p.A559T variant is found afterwards
• Sample collection: Blood or saliva
• Results:
  • Positive: Confirms CF diagnosis 

Testing Process

• Turnaround time: 2–4 weeks
• Informed consent and shared decision-making

Recommendations and Next Steps

• Proceed with diagnostic testing for Liam
• Offer CFTR gene sequencing to parents
• Coordinate follow-up once results are available, will call once results are available
• Provide educational resources on CF and genetic testing
• Discuss implications for future pregnancies

  Relevant Cystic Fibrosis Genetic DNA Today Episodes:

#147 CF Series: Bijal Trivedi on "Breath From Salt"

#148 CF Series: Shuling Guo on Pharmaceuticals

#149 CF Series: Boomer Esiason’s Son Gunnar on Patient Advocacy

 

Previous installments of our Mock Genetic Counseling Session series:

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Episode #351: Cardio Session for Sudden Death of A Family Member 

Episode #368: Prenatal Session for Increased Nuchal Transluency 

Disclaimer:

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. 

 

Connect With Us:

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 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 Video Lead is Amanda Andreoli. 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]. 

 

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters?

In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time.

Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition.

Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury.

This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope.

On This Episode, We Discuss:

 

• Understanding Hunter Syndrome (MPS II)
  • What it means to have a metabolic disorder and how MPS II affects the body
  • Common symptoms and how the disease progresses over time
  • The variability in presentation and severity among individuals
• A Family’s Journey Through Hunter Syndrome
  • Kristin’s experiences growing up with a brother affected by Hunter syndrome
  • Losing Zachary and later receiving the diagnosis for her son, Charlie
  • How these experiences shaped her perspective as both a parent and an advocate
• Project Alive: Mission, Growth & Impact
  • The origins and mission of Project Alive
  • Key initiatives supporting research, families, and advocacy
  • How the organization balances funding science, supporting families, and influencing policy
• Gene Therapy & the RGX-121 Delay
  • Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome
  • What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families
  • The emotional and practical impact of regulatory delays in ultra-rare diseases
  • What changes could help expedite review processes for rare disease therapies
• Advocacy, Equity & Access
  • How Project Alive amplifies the voices of a small but urgent patient community
  • Strategies for engaging policymakers and industry partners
  • Lessons the broader rare disease field can learn from this advocacy model
• Looking Ahead & How You Can Help
  • What listeners can do to support Project Alive
  • Opportunities for advocacy, awareness-building, and community engagement
    
    

Relevant Resources: 

• Project Alive
• MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page
• The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)
• Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision
• FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy
• JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial
• A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
• FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles
• Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692.
• The Precision Medicine Initiative launched by President Obama 
• It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future) 
• National Organization For Rare Disorders (NORD)
• EveryLife Foundation For Rare Diseases
• STAT News: 1 in 10 Americans have a rare disease, but few have treatments
• Cystic Fibrosis Foundation’s Venture Philanthropy Model
• Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673
• Denali Therapeutics Drug Pipelines (including MPSII) 
• Researchers estimated that 42% of Americans over age 55 will eventually develop dementia. 
• NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria

 

Relevant DNA Today Podcast Episode:

• #147 CF Series: Bijal Trivedi on "Breath From Salt"
• #149 CF Series: Gunnar Esiason on Patient Advocacy
• #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
• #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
• #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
• #327 How Patient Advocacy is Changing Rare Disease Research
• #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
• #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine
• #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, 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 Video Lead is Amanda Andreoli. 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]. 

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition.

Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized.

On This Episode We Discuss:

• Parenting a Child with Cockayne Syndrome:
  • Lack of carrier screening during IVF.
  • Genetic aspects and impact on DNA repair.
  • Different types of Cockayne Syndrome and their symptoms.
• Tailored Care for Ronan:
  • Importance of specific growth charts and dietary considerations.
  • Role of a supportive community and foundation efforts.
• Overlap with Other Disorders:
  • Similarities with other DNA repair disorders.
  • Importance of awareness and advocacy.
• Support and Encouragement:
  • Message to families and caregivers about community support.
  • Emphasis on shared experiences and advocacy.

 

Relevant Resources: 

• Cockayne Syndrome Foundation
  • TikTok: @HopeForCS
  • Instagram: @HopeForCS
  • Facebook 
• Cockayne Syndrome Page on MedlinePlus 
• Trichothiodystrophy (TTD) on MedlinePlus  
• Cockayne Syndrome: A Manual for Healthcare Providers
• Cockayne Syndrome: A Manual for Parents and Caregivers
• Growth Chart: Cockayne Syndrome Type 1 and Type 2
• The National Initiative for Cockayne Syndrome (NICS) 
• Amy and Friends
• MRI Lego Set 
• Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum)
• Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.

 

Relevant DNA Today Podcast Episode:

#39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum)

#327 How Patient Advocacy is Changing Rare Disease Research

#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

 

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, 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 Video Lead is Amanda Andreoli. 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].