This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism. 

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:

Miranda Di Biase, MS, CGC, is a Pediatric Genetic Counselor at the Children's Hospital at Montefiore Einstein. Her clinical focus centers on counseling families on genetic testing options to find a potential genetic etiology for their child's medical concerns. Di Biase also specializes in pediatric cancer predisposition syndromes and Williams syndrome. Di Biase's research focuses on genome sequencing. She participated in the NYCKidSeq research study, which performed whole genome sequencing for patients with neurological, immune and/or cardiac health problems. Her work has been shared through numerous scientific publications and abstracts.

After obtaining her Bachelor of Science from York University in Toronto, Canada, Di Biase moved to New York to earn her Master of Human Genetics at Sarah Lawrence College. Di Biase is certified by the American Board of Genetic Counseling and was nominated for the prestigious Heart of Genetic Counseling award in 2021 presented by the National Society of Genetic Counselors and Invitae. This award honors genetic counselors who have made a difference in the lives of their patients by using the combination of human excellence and human compassion that defines the profession. 

Claire Zimlinghaus is a second year graduate student at the Sarah Lawrence College Joan H. Marks Human Genetics program. She received a Bachelor's degree in Biological Sciences from the University of Pittsburgh in 2023. Claire has had a passion for the science of genetics since her youth, and hopes to be a source of information and empathy for her patients as a genetic counselor.

Joy Lin is currently a second year genetic counseling student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She received her Bachelor of Science in Biochemistry and Psychology from Stony Brook University. She is passionate about genetics and hopes to provide meaningful care to individuals and families as a genetic counselor.

Pediatric Mock Session Case Information 

Pediatric Mock Session Outline

Stay tuned for the continuation of our mock genetic counseling session series inspired by a cumulation of cases. 

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. 

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

Happy Rare Disease Day! We are celebrating by shining a light on Wiedemann-Steiner Syndrome (WSS), which is a rare genetic condition that affects development, growth, and overall health.

Joining us are Caleb and Abbi Wahl, parents to two daughters, one of whom, Jenni Anne, was diagnosed with WSS after a seven-year diagnostic odyssey. 

They share:

Resources: 

Team IMPACT 

Uplifting Athletes

WSS Foundation 

National Organization for Rare Disorders 

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

How can preventive genomic medicine save $200 billion annually in healthcare costs? Dr. Matthew Rabinowitz breaks it down in this episode.

Dr. Rabinowitz—a true pioneer in genetics, diagnostics, and AI—who’s been at the forefront of transforming how we approach health and medicine. Dr. Rabinowitz isn’t just a scientist; he’s a visionary who’s helped create groundbreaking technologies, from revolutionizing pregnancy care to tracking cancer through blood tests. In 2024, he was named R&D Leader of the Year by R&D World. Now, he’s tackling preventative genomic medicine, showing us how tools like whole genome sequencing (WGS) and polygenic risk scores (PRS) are turning healthcare from reactive to proactive.

Dr. Rabinowitz is the co-founder and Executive Chairman of MyOme and has played a key role in developing cutting-edge genomic technologies. His work has shaped the fields of reproductive genetics, cancer diagnostics, and precision medicine. With over 100 patents and publications, including papers in Science and Nature, his impact on healthcare is undeniable.

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

This week, I attended BIO’s CEO and Investor Conference in New York City—one of the largest investor gatherings in the biotech industry. The conference, organized by BIO (Biotechnology Innovation Organization), brings together institutional investors, industry analysts, and senior executives to discuss the latest biotech advancements and investment opportunities.

At the conference, I attended insightful panel discussions and company presentations where biotech CEOs shared their latest breakthroughs, research progress, and investment potential. After their presentations, I had the chance to sit down with two biotech leaders to dive deeper into their work: Dr. Premal Patel of Cellinfinity Bio and Dr. Travis Whitfill of Azitra.

A physician-scientist with 15 years of experience in medical oncology drug development, Dr. Patel has worked with major biotech companies like Genentech, Pfizer, and Juno Therapeutics. He specializes in CAR-T therapy, a groundbreaking approach to engineering immune cells to fight cancer. Now, as CEO of Cellinfinity Bio, he’s focused on tackling one of cancer treatment’s biggest challenges: using CAR-T to treat solid tumors.

A serial biotech entrepreneur and venture capitalist, Dr. Whitfill co-founded Azitra, a company pioneering the use of synthetic biology to engineer skin bacteria for treating rare genetic skin diseases. He has led multiple biotech startups, served on the boards of several healthcare companies, and was named to Forbes’ 30 Under 30 (Healthcare) list in 2018.

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community—Gay Grossman!

Gay is the co-founder of ADCY5.org, a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-body presentation of ADCY5-related movement disorder.

Since then, Gay has transformed her personal experience into global action, building a rare disease community that has directly influenced research and treatment options. Her efforts have bridged the gap between patients, families, researchers, and industry stakeholders, leading to groundbreaking advancements in genetic testing, patient data sharing, and treatment development.

Gay now works at GeneDx, where she continues to empower families through genetic testing and data-driven research.

- Raising a child with an undiagnosed rare disease – The emotional and practical challenges of a 15-year diagnostic journey

If you are in the San Diego area, join Gay Grossman, Effie Parks and other rare disease advocates at their event downtown on Feb 28th (aka Rare Disease Day), more info here. If you are not in San Diego, find an event more local to you here. 

Speaking of Effie Parks, be sure to check out her podcast Once Upon A Gene, and stick around until the end to hear her son Ford’s adorable laugh. Effie was on Episode #203 of DNA Today and our host Kira Dineen was a guest on her podcast in Episode #143. 

During this episode we also mentioned another parent of a kid with a rare disease that includes sleep disturbances. Scotti Taylor shared about her daughter’s Smith Magenis Syndrome on Episode #293. 

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wrongful convictions.

Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute. He has published > 450 articles and is the recipient of numerous awards.

After reading his book Genetic Reconstruction of the Past, I had countless questions about how PCR reshaped the justice system, its impact on exonerations, and the ethical implications of forensic DNA databases.

Trigger Warning: This episode contains discussions of murder and sexual assault, which may not be suitable for young listeners.

Topics Covered:

Resources and Links:

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs). 

Joining us are two leading experts in the field:

Together, they break down how these groundbreaking methods work, their advantages over traditional approaches, and their potential to advance precision medicine. From the challenges of interpreting MAVEs data to their role in reducing health disparities and resolving variants of uncertain significance (VUS), this episode offers a comprehensive look at the future of genomics.

Dr. Lea Starita is an Associate Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.

Dr. Douglas Fowler is a Professor of Genome Sciences and an Adjunct Professor of Bioengineering at the University of Washington. Dr. Fowler is co-Director of the Center for the Multiplexed Assessment of Phenotype, an NHGRI Center of Excellence in Genome Sciences. He is also a founder and current co-chair of the Atlas of Variant Effect Alliance executive committee.

Key Topics Covered:

Resources:

Variants and Us (VUS) Podcast 

Introduction to Deep Mutational Scanning (Animation)

An Atlas of Variant Effects to understand the genome at nucleotide resolution

Understanding haemophilia, one amino acid at a time

Mutational Scanning Symposium 2025 in Barcelona in May 2025

Impact of Genomic Variation on Function (IGVF) Consortium

N-Lorem developing ASOs for nano-rare diseases

NIH’s ClinVar Database 

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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

With millions of people now taking GLP-1 agonists like Ozempic and Wegovy, I was curious to learn if there are known genetic mutations that predispose people to have serious side effects from these medications. So exploring the pharmacogenomic aspects of Ozempic and Wegovy. 

To answer these questions Dr. Josiah Allen is joining the show. Josiah Allen, PharmD, has spent over 15 years in the field of pharmacogenomics, beginning at the Mayo Clinic where he helped develop the GeneSight test. As a founding employee and the first medical science liaison at Assurex Health, he helped GeneSight become one of the fastest growing molecular diagnostic tests in history.

He later served as director of medical affairs at OneOme and now works at St. Elizabeth Healthcare in Edgewood, KY, as a precision medicine pharmacist and PGY2 Clinical Pharmacogenomics pharmacy residency program director. He earned his bachelor's degree in psychology from Wheaton College and his Doctor of Pharmacy degree from the University of Minnesota.

In the recording, Dr. Allen teases that the Board of Pharmacy Specialties (BPS), the post-licensure certification organization serving the pharmacy profession, will issue a call for petition in pharmacogenomics. The board will be reviewing the petition and evaluating pharmacogenomics as a pharmacy specialty. In the days after we recorded this was released and you can find the full press release here.

Topics Covered:

Key Takeaways:

Resources:

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

While you wait, why not dive into our library of over 300 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. 

Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think about and treat these conditions today is evolving.

In this first episode of a series focused on the evolution of UCD management, we discuss the current state and importance of UCD management, and how clinicians can support their patients to sustain their daily UCD care. Joining us for the discussion are two renowned biochemical genetics experts with direct UCD patient care experience.

Holly Bernal, RN, MSN, FNPc is the nurse practitioner with Stanford Biochemical Genetics and has been in that role for the last 8 years. She originally earned her bachelor’s degree at San Francisco State University in 1991 followed by her master’s degree at UCSF in 1999. In 2016 she returned to San Francisco State and earned her FNP certificate and started her role in biochemical genetics. She has a passion for metabolic genetics and also coordinates Stanford’s newborn screening program.

Laurie Bernstein, MS, RD, FADA, FAND is a metabolic dietitian and Professor Emerita of the University of Colorado School of Medicine. Her significant contributions to the field of biochemical genetics include helping to found the professional organization Genetic Metabolic Dietitians International (GMDI) and co-founding Metabolic University, a training forum for new metabolic genetics clinicians. She is a co-editor and author of the textbook, Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, and has also co-authored various other educational modules for families with IEMs.

On This Episode, We Discuss:

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching “DNA Today.” Episodes since 2021 are also recorded with video, which you can watch on our YouTube channel; this includes some episodes recorded at NBC Universal Stamford Studios.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel, and our Logo Graphic Designer is Ashlyn Enokian. This episode is sponsored by AMGEN.

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

Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 

In this special episode drop, we’re revisiting the inspiring journey of Susannah, whose story was the first ever shared on the Patient Empowerment Program podcast. Now, two years later, Susannah’s father, Luke Rosen, and her physician, Dr. Jennifer Bain, join us to share her remarkable progress since beginning regular treatments. They highlight incredible improvements in Susannah’s motor skills, cognition, energy, and overall quality of life.

This episode originally aired on the Patient Empowerment Program podcast, where our host, Kira Dineen, serves as a producer. You might even recognize her voice in some of the promos and ads for the show!

For long-time listeners of DNA Today, you might recall that we shared the pilot episode of the Patient Empowerment Program podcast featuring Susannah’s story back in Episode 186. Now, we’re thrilled to bring you this heartwarming update to see how far Susannah has come and to celebrate her incredible resilience.

Be sure to check out more episodes of the Patient Empowerment Program podcast, which focuses on empowering nano-rare patients and their families. Search for the podcast in your favorite podcast app or visit its listing on n-Lorem’s website.

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 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

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

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

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