DNA Today: A Genetics Podcast

#392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism

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 info@DNAtoday.com.

#391 Living with FSGS: A Genetic Kidney Disease Journey

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 info@DNAtoday.com.

#390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story

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 info@DNAtoday.com. 

#389 From Natural History to Gene Therapy: The Future of Danon Disease Research

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 UCSD.
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 info@DNAtoday.com. 

#388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis. 
Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway.
 
Inside This Episode:
The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives.
Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss:
The role of the NEU1 gene and how mutations lead to cellular dysfunction.
The two primary forms of the condition (Type I and Type II) and their clinical presentations.
Why Sialidosis is frequently misdiagnosed or overlooked by clinicians.
Daily Life & Advocacy What does it look like to manage a rare condition day-to-day? Faith offers a candid look at the balance between medical management and the psychosocial burden on patients and siblings. Dan discusses how his personal and familial connection fueled the mission of Cure Sialidosis.
The Future of Treatment: Gene Therapy We look toward the horizon of rare disease research. Sialidosis is currently entering the pre-clinical gene therapy stage, where the goal is to correct the NEU1 gene. Dan provides an update on the status of enzyme replacement and the global drive to raise funds for manufacturing the treatments required for human trials scheduled for 2026.
 
About Our Guests:
Dan Peach is a founding member of Cure Sialidosis and a board member of Cure Mucolipidosis. As one of five siblings, three of whom were affected by Sialidosis, his connection to the disorder is profound. Since helping facilitate the diagnosis of his brother Antonn and sister Faith, Dan has become a dedicated patient-researcher. He leads a global community of patients, clinicians, and researchers, collaborating worldwide to address the root causes of the disease and improve outcomes for all affected.
Faith Sinclair is a patient advocate living with Sialidosis, and sister to Dan. Her journey from years of medical uncertainty to a definitive diagnosis has made her a vital voice in the rare disease space, dedicated to sharing the unique perspectives of patients and their families.  
 
Relevant Resources: 
CureSialidosis.org
Kiwi siblings battling rare genetic condition
Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald 
 
More Lysosomal Storage Disorder Episodes on DNA Today:
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
#376 Why Females with Fabry Disease Aren’t “Just Carriers” 
#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy
#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)
#281 Tay-Sachs with Dr. Matthew Goldstein
#171 Farber Disease with Aceragen 
 
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 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 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 info@DNAtoday.com.

#387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape.
Shoutout to the lead organizer Anthony Zuo for putting this conference together. 
 
The Panel (in order of appearance) 
 
David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency.
 
Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome. 
 
Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful. 
 
Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast.
 
Topics Discussed 
The Burden of Expertise
A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer.
Navigating the Emergency Room
David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort.
The Battle with Insurance and Systems
Kate shares a heartbreaking story of "Systemic Trauma":
The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch.
The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier."
The Power of Community and Storytelling
Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change.
 
Relevant Resources: 
Jill Gassman Zullo’s book Brokenly Beautiful
Jonathan Cappiello’s podcast 1 of 20 podcast
Kate Tokarski’s poem I Was 'That Mom' 
National Organization for Rare Disorders (NORD)
Undiagnosed Disease Network (UDN)
Genetic and Rare Diseases Information Center (GARD)
 
Relevant Rare Disease Patient Advocacy Stories on DNA Today:
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy
#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy
#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency
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 info@DNAtoday.com. 

#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care.
This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties.
Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care.
In This Episode, We Discuss
Building a Medical Home
What a “medical home” means for children with achondroplasia
Common concerns families raise after a new diagnosis, beyond height
Supporting families early while planning for long-term care
Co-Morbidities & Clinical Complications
Key conditions clinicians should monitor in infants and children, including:
Foramen magnum stenosis
Hydrocephalus
Sleep apnea
ENT issues like recurrent ear infections and hearing loss
Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs
How chronic pain presents and is managed across childhood and adulthood
Living With Achondroplasia
How medical needs evolve from childhood into adolescence and adulthood
The role of fatigue, mobility limitations, and accessibility in daily life
Balancing medical care with childhood independence and normalcy
Under-recognized burdens that significantly affect patients and families
Multidisciplinary Care in Practice
What a full skeletal dysplasia care team looks like
How palliative care supports symptom management, decision-making, and quality of life
Coordinating care across specialties like orthopedics, neurosurgery, ENT, and audiology
Preventing communication breakdowns between providers
Helping families navigate complex choices around interventions and surgeries
Looking Ahead
Gaps in current care models for achondroplasia
How emerging treatments are changing long-term planning conversations
Key takeaways for providers who may only occasionally care for patients with achondroplasia
 
Our Guest Dr. Ricki Carroll:
Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee.
 
Achondroplasia Resources: 
Little People of America (LPA) 
Dwarf Athletic Association of America (DAAA) 
International Achondroplasia Forum 
Achondroplasia GeneReviews 
Achondroplasia Growth Charts
Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. 
Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010
Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017 
 
Relevant Skeletal Dysplasia DNA Today Episodes: 
#192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer 
#301 Dwarfism with Colleen Gioffreda 
#348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders) 
#359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment)
 
Be on the lookout for our third and final episode in this series about achondroplasia sponsored by BioMarin. 
 
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 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 info@DNAtoday.com. 

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

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! 
 
We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing.
 
Our episode is broken into three segments…
 
Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands
Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro
Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger 
 
Relevant Resources: 
 
Baylor Genetics Segment Resources: 
Baylor Genetics Announces Enhanced Whole Genome Sequencing Test
Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies 
AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay
 
Illumina Segment Resources: 
Genomewide Sequencing Ontario Project 
Illumina’s Emedgene variant interpretation software 
Illumina’s Grand Rounds in Genomic Medicine 
Genome Aggregation Database (gnomAD) 
 
Ambry Genetics Segment Resources: 
Ambry Genetics’ Patient for Life website and white paper
Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield 
Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics 
Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access”
 
Relevant DNA Today Podcast Episode:
#182 Eric Green on the Complete Human Genome Project
#231 ChatGPT and AI In Genetics with Daniel Uribe
#285 AI To Enhance Variant Curation with Daniel Uribe
#297 Exome Reanalysis with Ambry Genetics
#303 RNA Analysis with Ambry Genetics
#325 Revolutionizing Variant Curation with MAVEs
#334 ACMG 2025 Recap
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections
#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey
 
Upcoming Conferences:
In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026…
Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego 
Podcast Movement in September in New York City 
American Society of Human Genetics (ASHG) in October in Montreal
National Society of Genetic Counselors (NSGC) in November in Baltimore  
 
Connect With Us:
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) 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 info@DNAtoday.com. 

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

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics.
While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases.
Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and 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.
Topics Covered in This Episode:
RNAseq 101: What RNA sequencing is and how it complements DNA sequencing.
Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss.
Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care.
Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq.
Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant?
Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time.
When Results Are Inconclusive: How to handle unexpected or unclear RNA findings.
Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice.
Implementation Barriers: Challenges to scaling multi-omic testing in routine labs.
Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade.
Resources & Links:
Learn more about Baylor Genetics here
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
 
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 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 info@DNAtoday.com. 
 

#383 Inside the Brazilian Rare Genomes Project

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 info@DNAtoday.com.