DNA Today: A Genetics Podcast

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

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 info@DNAtoday.com. 

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

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 info@DNAtoday.com.

#377 Integrating Pharmacogenomics (PGX) into Elder Care

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 findsClinPGx
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 info@DNAtoday.com.

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

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 info@DNAtoday.com. 

#375 How Your Publication Can Fuel Genetic Innovation

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 info@DNAtoday.com. 

#374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine

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 info@DNAtoday.com.

#373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

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 info@DNAtoday.com. 
 

#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy

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 info@DNAtoday.com. 

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

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 info@DNAtoday.com. 

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026. 
 
The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. 
 
Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. 
 
In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. 
Top 2025 Papers With Genomic Medicine Advancements
Gene Therapy 
CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe
Utility of a high-activity variant in gene therapy for hemophilia B 
Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema
Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy
Sequencing
Long-range genome sequencing enhances rare disease variant detection
Long-read genome sequencing identifies diagnostic variants 
Exome sequencing in critical illness is useful in adults as well as children 
Other
Utility of pharmacogenomics in chemotherapy for GI cancers 
Polygenic risk score disclosure reduces adverse cardiovascular events 
Preimplantation genetic testing reduces risk of mtDNA diseases 
The Guests: 
 
Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine.
 
Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research.
 
Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics.
 
Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009.
Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project.
Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020).
 
With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. 
 
Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981 and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. 
 
While directing an independent research program for just over two decades, Dr. Green was at the forefront of efforts to map, sequence and understand mammalian genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function and evolution. His laboratory also pursued human genetics studies and identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease and peripheral neuropathy. Dr. Green has received countless awards, most recently the 2025 ASHG Leadership Award where he received a much deserved standing ovation. 
Quick Fact Check: 
Kira estimated there were 30 or 40 genes in the mitochondria, she was in the ballpark, there are 37 genes. 
 
Additional Papers Referenced: 
(In order of appearance) 
 
Hobbs HH, Cohen JC, Horton JD. PCSK9: From Nature's Loss to Patient's Gain. Circulation. 2024 Jan 16;149(3):171-173. doi: 10.1161/CIRCULATIONAHA.123.064498. Epub 2024 Jan 16. PMID: 38227713; PMCID: PMC10874118.
 
Musunuru K, Urnov F. Moving Therapeutic Genome Editing into Global Clinical Trials and Medicine. CRISPR J. 2025 Aug;8(4):228-231. doi: 10.1089/crispr.2025.0049. Epub 2025 May 22. PMID: 40397097.
 
Gurevitz C, Bajaj A, Khera AV, Do R, Schunkert H, Musunuru K, Rosenson RS. Gene therapy and genome editing for lipoprotein disorders. Eur Heart J. 2025 Sep 15;46(35):3420-3433. doi: 10.1093/eurheartj/ehaf411. PMID: 40600248; PMCID: PMC12448413.
 
Logsdon, G.A., Ebert, P., Audano, P.A. et al. Complex genetic variation in nearly complete human genomes. Nature 644, 430–441 (2025). https://doi.org/10.1038/s41586-025-09140-6
 
Visscher, P.M., Gyngell, C., Yengo, L. et al. Heritable polygenic editing: the next frontier in genomic medicine?. Nature 637, 637–645 (2025). https://doi.org/10.1038/s41586-024-08300-4
 
Lapinska S, Pimplaskar A, Shi Z, Ding Y, Frydman-Gani C, Hou K, Venkateswaran V, Boulier K, Olde Loohuis LM, Pasaniuc B. Exploring depression treatment response by using polygenic risk scoring across diverse populations. Am J Hum Genet. 2025 Aug 7;112(8):1877-1891. doi: 10.1016/j.ajhg.2025.06.003. Epub 2025 Jun 27. PMID: 40580956; PMCID: PMC12362525.
 
Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Kailyn Anderson, Megan Sikes, Lukas Kruidenier, Heidi I.S. Gildersleeve, Abbey Scott, Kati J. Buckingham, Kirsty McWalter, Paul Kruszka, Alexandra C. Keefe, Jessica X. Chong, David L. Veenstra, Katrina M. Dipple, Tara Wenger, Dan Doherty, Michael J. Bamshad,
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis, Human Genetics and Genomics Advances, Volume 6, Issue 4, 2025, 100464, ISSN 2666-2477,https://doi.org/10.1016/j.xhgg.2025.100464.
 
Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 9;6(4):100464. doi: 10.1016/j.xhgg.2025.100464. Epub 2025 Jun 3. PMID: 40468597; PMCID: PMC12357158.
Relevant Resources:
“World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia” via CHOP
“Is NIH cutting corners as it rushes to fill leadership positions?” via Science Insider  
“The U.S. Is Funding Fewer Grants in Every Area of Science Medicine” via The New York Times
American Society of Human Genetics Past President List
Six Things to Know About ASHG’s Advocacy Work in 2025
Six Ways to be an ASHG Advocate
“On the Hill and Working for You: Our Advocacy in Action” ASHG Webinar
Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions via Broad Institute 
Human Pangenome Project 
“Stanford scientist (Dr. Euan Ashley) who broke genome sequencing record on what faster diagnoses mean for patients” (2023) via STAT News
Broad Clinical Labs sets new GUINNESS WORLD RECORDS™ title for fastest DNA sequencing technique
“All babies in England to get DNA test to assess risk of diseases within 10 years” via The Guardian 
“Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes about the Sunshine Genetics Act 
Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS)
First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award
Being an accidental pioneer in precision medicine | Matt Might | TEDxBirmingham
 
Relevant DNA Today Podcast Episode:
#110 Gattaca, 22 Years Later
#117 Dr. Janina Jeff on African Genomes
#150 Euan Ashley and Stephen Quake on The Genome Odyssey
#182 Eric Green on the Complete Human Genome Project
#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium
#214 Genetics Wrapped 2022 (with Dr. Eric Green)
#216 African American Ancestry with Nicka Smith
#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels
#260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green)
#266 Genetics Wrapped 2023 (with Drs. Eric Green and Brendan Lee)
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
#318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Drs. Bruce Gelb and Eric Green)
#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)
#345 How To Talk About DNA Without Losing People: Strategies Part 1
#350 How To Talk About DNA Without Losing People: Strategies Part 2
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections (with Dr. Eric Green)
#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding 
 
Connect with us:
Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our library of over 365 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.