DNA Today: A Genetics Podcast

Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families.

Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies.

In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families.

Topics Covered: 

The growing role of whole genome sequencing in rare disease diagnosis

How healthcare systems and clinical practices are adopting genome sequencing

How whole genome sequencing is changing pediatric patient care

Why some patients remain undiagnosed after initial WGS testing

The current diagnostic gap in rare disease genetics

Efforts underway to improve diagnostic yield

What a multimodal and multi-omic approach looks like in practice

How optical genome mapping and long-read sequencing complement WGS

How labs determine when to layer on additional technologies

The real-world impact of a confirmed diagnosis on treatment and trial access

About Dr. Christine Eng:
Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients.

About Chris Sands:
Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients.

Relevant Resources: 

Learn more about Baylor Genetics here

Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies

Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases

AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report

Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays

Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”

Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.

Undiagnosed Disease Network

 

Relevant DNA Today Podcast Episode:
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections 

#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

#376 Why Females with Fabry Disease Aren’t “Just Carriers”

 

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 390 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].

What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life. 

But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize. 

In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease. 

We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine. 

In This Episode, We Discuss:

Why DNA should not be viewed as static

What somatic mutations are and why they matter

The concept of mosaicism and what it means that every human is a mosaic

How Darwinian evolution can happen within the body

How mutation supports antibody diversity and immune defense

Clonal hematopoiesis and its links to cardiovascular disease and aging

Phenocopies and how spontaneous mutations can mimic inherited disease

Cases where cells appear to self-correct through additional mutations

Whether mutation accumulation may help drive aspects of aging

 

The Guest:
Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here.

 

Genetic Conditions Mentioned:

Progeria

Werner syndrome 

Hyper IgM syndromes

Adenosine deaminase severe combined immune deficiency (ADA-SCID)

VEXAS syndrome 

​​Paroxysmal nocturnal hemoglobinuria (PNH) 

Duchenne muscular dystrophy (DMD)

Genetic History Timeline Referenced:

1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin 

1916 - Ernest Tyzzer  first used the term ‘somatic mutation’ with respect to a tumour

1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick 

1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell

2003 - First draft of the human genome is announced complete.  

 

Relevant Papers:

Early somatic mosaicism is a rare cause of long-QT syndrome

Variations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences. 

The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis 

How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis. 

Trisomy rescue 

 

Science Fiction Recommendations - Genetics Edition

Kira’s Favorite - Orphan Black

Roxanne’s Favorite - Gattaca

Relevant DNA Today Podcast Episode:
#110 Gattaca, 22 Years Later

#134 Dr. Kat Arney on Cancer Evolution

#202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde

#250 Orphan Black: The Next Chapter with Madeline Ashby

#297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman

#306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics

#351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome)

#365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science

 

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 390 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! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo 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].

Kidney disease affects more than 1 in 7 adults in the United States, yet many people do not realize they are at risk until symptoms become serious. For some patients, kidney disease is tied to rare or genetic causes, making diagnosis and treatment even more complex.

In this episode of DNA Today, we explore focal segmental glomerulosclerosis (FSGS), APOL1-mediated kidney disease (AMKD), and the real-life impact of navigating a rare kidney disease diagnosis as a young adult.

Joining the show is Emani McConnell-Brent, who shares her personal experience living with FSGS, from early symptoms and delayed diagnosis to the emotional toll of learning her kidney disease is genetic.

Also featured is Dr. Pranav Garimella, Chief Medical Officer at the American Kidney Fund, who explains the science behind FSGS, when genetic testing for conditions such as AMKD should be considered, and why earlier recognition of kidney disease symptoms can make such a meaningful difference.

Together, they discuss the importance of listening to patients, not dismissing early warning signs like protein in the urine, and improving access to genetic evaluation for people with unexplained kidney disease or a family history of kidney problems.

Emani also opens up about how kidney disease changed her daily life, from monitoring her blood pressure and swelling to adjusting her plans, energy, and expectations as a young adult. Her story is a powerful reminder that earlier diagnosis does not just impact medical management,  it can also shape a person’s mental health, future planning, and sense of control.

The episode also highlights the work of the American Kidney Fund, including its mission to support people living with kidney disease through education, advocacy, prevention, and resources for both patients and healthcare providers.

In This Episode, We Discuss:

What focal segmental glomerulosclerosis (FSGS) is

How FSGS affects kidney function

Emani McConnell-Brent’s journey to diagnosis

The role of APOL1 genetic risk variants in kidney disease

Why persistent protein in the urine should not be overlooked

When genetic testing may be appropriate in kidney disease evaluation

The mental health and lifestyle impact of chronic kidney disease in young adults

How the American Kidney Fund supports patients, families, and providers

About the Guests
Emani McConnell-Brent is a full-time student at Bowie State University majoring in psychology. She is an advocate for kidney health and mental health. Despite Emani’s diagnosis of focal segmental glomerulosclerosis (FSGS) in 2020, she has invariably displayed ambition, resilience and transparency. She refuses to allow her diagnosis or any lifelong outcomes to dictate her success. Instead, she views her diagnosis as an opportunity for advocacy and education. Emani has since devoted her platform to telling her story and to bringing awareness to APOL1-mediated kidney disease and health disparities among African Americans. 

 

Dr. Pranav Garimella, MBBS, MPH, FASN, joined the American Kidney Fund as its first Chief Medical Officer in January 2025. A board-certified nephrologist and nationally recognized leader in rare kidney diseases, he also serves at UC San Diego Health as Director of Acute Dialysis Services and the Polycystic Kidney Disease Center of Excellence. Dr. Garimella is an accomplished researcher focused on kidney function, cardiovascular disease, bone health, and mortality, with NIH-funded work and more than 110 peer-reviewed publications. He is also a trained epidemiologist, frequent journal reviewer, and fellow of the American Society of Nephrology. 

Resources Mentioned:

American Kidney Fund (AFK) 

AKF's Unknown Causes of Kidney Disease Project

AKF’s Continuing education opportunities 

AKF’s Explanation of APOL1-mediated kidney disease (AMKD) 

Emani McConnell-Brent’s Instagram and LinkedIn advocacy 

MedlinePlus’ Page on focal segmental glomerulosclerosis (FSGS)

 

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 390 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].

In this special episode of DNA Today, Kira Dineen sits down with Mayte Garcia — artist, author, internationally acclaimed dancer, actress, singer, choreographer, philanthropist, and the former wife of Prince — for a deeply personal conversation about love, loss, legacy, and the rare genetic condition Pfeiffer syndrome type 2.

You may know Prince as one of the most influential musicians of all time, but in this episode, we step beyond the public image and into a far more intimate story: Prince and Mayte as expectant parents, the profound love they shared for their son Amiir, and the devastating medical journey that followed after his birth.

Mayte reflects on pregnancy, the bond she and Prince formed with Amiir before he was born, the difficult decisions they faced, and what it meant to navigate a rare diagnosis in the 1990s before information was as accessible as it is today. 

Kira also provides helpful context on Pfeiffer syndrome, including its genetics, symptoms, and why Amiir’s diagnosis of the severe type 2 form carried such serious medical challenges.

This conversation also explores grief — both private and public — as Mayte shares what it was like to mourn Amiir while under the intense pressure of public life. She offers moving insight for parents who feel pressure to hide their pain, and reflects on how writing her memoir, The Most Beautiful: My Life with Prince, became part of her healing.

The episode closes on legacy: not only Prince’s legacy as a global music icon, but his humanitarian spirit and the work that continues through Live 4 Love Charities, the nonprofit founded in memory of Amiir and rooted in Prince’s philanthropic vision.

This month marks 10 years since Prince passed away, and also 30 years since their son Amiir died. Mayte is honoring them both through a special Live 4 Love Charities Glam Slam Benefit in Los Angeles on April 21st, 2026.

We Discuss:

Prince and Mayte’s bond with Amiir during pregnancy

Why they declined amniocentesis during the pregnancy

What Pfeiffer syndrome type 2 is and how it differs from other forms

The genetics of Pfeiffer syndrome, including FGFR2 and de novo variants

The medical complexity of Amiir’s care after birth

Prince as a father behind the public persona

Grief, public image, and the pressure to “perform” wellness

Mayte’s memoir and why she chose to tell this story

The legacy of Amiir

Prince’s humanitarian legacy beyond music

Mayte’s leadership of Live 4 Love Charities

The upcoming Glam Slam Benefit on April 21st honoring Prince’s life and impact

About Mayte Garcia
Mayte Garcia is a Puerto Rican dancer, choreographer, actress, singer, author, and philanthropist. A professional belly dancer since age three, she became internationally known as Prince’s muse, collaborator, featured dancer for the New Power Generation, and later his first wife. She is the author of the memoir The Most Beautiful: My Life with Prince.

Mayte has appeared in numerous film and television projects, including Hollywood Exes, Army Wives, Psych, The Closer, and Nip/Tuck. She now leads Live 4 Love Charities, continuing a mission rooted in compassion, service, creative empowerment, and honoring the legacy of both Prince and their son, Amiir, who died from a genetic condition called Pfeiffer Syndrome. 

Resources & Links

Mayte Garcia’s memoir: The Most Beautiful: My Life with Prince

Live 4 Love Charities
Love In Action Program

Stillborn And Infant Loss Support (S.A.I.L.S.), receipt of a $10,000 donation from the Love in Action Program. You can watch Mayte Garcia call the program to break the good news here. 

Live 4 Music Program

Live for Dance Program 

Glam Slam Benefit Tickets

Pfeiffer Syndrome:

MedlinePlus’ Page 

NORD Page

Born A Hero, Research Foundation for all FGFR conditions 

 

Relevant DNA Today Podcast Episode:
#281 Tay-Sachs with Dr. Matthew Goldstein (regarding his late daughter Havi)

#315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally (regarding Dr. Leibman’s late niece) 

 

Upcoming Live 4 Love Charities Event on April 21st
On April 21, 2026, Live 4 Love Charities will host its Glam Slam Benefit at the W Hollywood, an evening dedicated to celebrating Prince’s lasting cultural and philanthropic legacy.

The event will feature performances by Paisley Park alumni, joined by the Mpls All Star Band made up of former Paisley Park musicians, with additional special guests including Taylor Dayne, Sheila E, and more to be announced.

Now led by Mayte Garcia, Live 4 Love Charities continues the mission Prince began: uplifting communities through compassion, creative empowerment, youth development, arts education, and healing. Through programs like Live 4 Dance and Live 4 Music, the organization helps mentor and empower the next generation of young artists.

You can get tickets for their Grand Slam Benefit here. 

Learn more about the charity and the Glam Slam Benefit here:
https://live4lovecharities.org/

 

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 390 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].

Danon disease is a rare, X-linked metabolic disorder that strikes at the heart of cellular function. Caused by mutations in the LAMP2 gene, it disrupts the body’s ability to clear cellular waste (autophagy), leading to devastating and often life-threatening cardiac complications. Because the disease is so rare, understanding its natural progression, and how to stop it, is the current "North Star" for researchers and clinicians alike.

In this episode, we are joined by two world-renowned experts to discuss the current landscape of Danon disease research: Dr. Barry Greenberg and Dr. Cordula Wolf. We dive deep into the mechanics of the disease, the importance of the LAMPLIGHT-NH observational study, and the groundbreaking LAMPLIGHT-2 interventional gene therapy trial.

Meet the Experts

Dr. Barry Greenberg (US): A pioneer in heart failure research and Director of the Advanced Heart Failure Program at UC San Diego.

Dr. Cordula Wolf (Germany): A leading expert in pediatric cardiology and congenital heart defects, specializing in the clinical management of metabolic cardiomyopathies.

Understanding the Disease Course
Danon disease is fundamentally a "traffic jam" at the cellular level. Without a functional LAMP2 gene, lysosomes cannot fuse with autophagosomes, leading to a buildup of cellular debris.

The Impact: This manifests primarily as hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.

The Cardiac Threat: For many patients, especially males, the disease progresses rapidly toward end-stage heart failure or sudden cardiac death, often requiring heart transplants at a young age.

Resources & Clinical Trial Links
If you are treating a patient with a confirmed or suspected LAMP2 pathogenic variant, your referral to a study site can change the trajectory of their care.

Observational (LAMPLIGHT-NH)

Best for gathering data without changing current management.

Natural History Study (LAMPLIGHT-NH): ClinicalTrials.gov NCT06214507

Interventional (LAMPLIGHT-2)

A Phase 2 trial for those meeting specific cardiac and age requirements.

Interventional Study (RP-A501): ClinicalTrials.gov NCT06092034

Official Study Website: LAMPLIGHT Studies

 

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 385 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].