DNA Today: A Genetics Podcast

• #341 How One Family Faced Seven ALS Diagnoses and Chose Advocacy

  In honor of ALS awareness month, we are joined by Debbie Lower. She is a remarkable advocate, educator, and caregiver whose family has been deeply impacted by ALS. Over the last three decades, Debbie has lost seven family members to ALS and frontotemporal dementia (FTD), many of whom carried the C9orf72 gene mutation. From caregiving for her mother to mentoring other families and advocating for research funding, Debbie has turned unimaginable loss into powerful action. Today we’ll dive into the genetics of ALS, the current landscape of research and drug development, and how Debbie continues to support families navigating the emotional and genetic complexities of this disease.   Episode Topics Include: How ALS and FTD unfolded in Debbie’s family over multiple generations The impact of receiving a negative genetic test result for C9orf72 What the C9orf72 repeat expansion means for familial ALS and FTD Other genes linked to ALS and how genetic testing is evolving The emotional and psychological complexities of genetic diagnoses The difference between familial and sporadic ALS Promising clinical trials and research efforts in genetic ALS How advocacy and mentorship empower families facing these rare diseases Debbie’s advice for newly diagnosed families navigating ALS or FTD   Resources Mentioned in Episode:  I Am ALS Organization  The ALL ALS PREVENT Study  The ALL ALS ASSESS Study  HEALEY ALS Platform Trial End The Legacy Organization   Team Gleason Foundation (specifically their tech like controlling wheelchairs with eye gaze) I'm Dying To Tell You Podcast  Go On, Be Brave Documentary  Tofersen drug reversing some people’s symptoms (In 2023 the FDA approved it to treat SOD1-ALS)  “Artificial intelligence empowered voice generation for amyotrophic lateral sclerosis patients” Regondi et. al 2025 Nature Paper “Evidence-based consensus guidelines for ALS genetic testing and counseling” Roggenbuck et. al 2023, Annals of Clinical and Translational Neurology Paper “Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD” Benatar et. al. 2025, J Neurol Neurosurg Psychiatry Paper    At the end of the episode, host Kira Dineen has a heartfelt thank you to one of her mentors who has ALS, Doug Campbell. He has been and continues to be instrumental in the development of the DNA Today brand and business.  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]. 

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• #340 How Podcasting Shaped A Genetics Career: Dr. Matt Burgess Interviews Kira Dineen

  I launched a brand new science podcast network called Gene Pool Media, two weeks ago on DNA Day, April 25th. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including…   RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  All Access DNA Two brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality.    Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now!    If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected].    In this episode drop of Demystifying Genetics where I was actually a guest. This podcast is hosted by an Australian genetic counselor Dr. Matt Burgess. Matt interviews me about my journey as a high school starting this genetics podcast from my childhood bedroom to becoming a genetic counselor and now multi-award winning podcast. The conversation explores the nuances of genetic counseling, the impact of technology like CRISPR, and the unexpected connections that shape careers in genetics. Matt was also a guest way back in 2020 on Episode #114 on DNA Today when I was still a grad student.    Episode Topics:    Kira discusses her personal journey into genetic counseling  Emphasises the balance between technical skills and patient care  Addresses common misconceptions about the emotional weight of the profession  Shares insights into the groundbreaking use of CRISPR technology  Highlights the importance of podcasting in enhancing professional growth  Explores the unexpected recognition from Kourtney Kardashian’s blog    Any inquiries for Demystifying Genetics podcast can be through Matt’s LinkedIn.  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]. 

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• #339 Inherited Leukemia: Exploring Genetic Risk and Early Detection

  A week ago on DNA Day, April 25th, I launched a brand new science podcast network called Gene Pool Media. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including… RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  All Access DNA Two brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality.  And All Access DNA, which you are about to hear one of their recent episodes. I figured that would be a perfect way to celebrate the launch of Gene Pool Media.    Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now!    If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected].    In this episode drop of All Access DNA you will hear from genetic counselor Sarah Bannon, who discusses the complexities of inherited blood cancers, particularly leukemia. The host of All Access DNA is Kate Wilson; who will sound familiar as she is a co-host on the journal of genetic counseling’s podcast, DNA Dialogues and a podcast from the National Society of Genetic Counselors.    In this conversation, Sarah Bannon discusses the complexities of inherited blood cancers, particularly leukemia, and the evolving role of genetic counseling in understanding and managing these conditions. She highlights the historical context of genetic research in blood cancers, the importance of family history in assessing risk, and the advancements in genetic testing that have led to better identification of hereditary cancer syndromes. The conversation also covers the implications of genetic testing results for patients and their families, the challenges faced in the field, and the rewarding aspects of working in this emerging area of genetic counseling.   On This Episode We Discuss: What inherited blood cancers are and how they may run in families There are many known genes linked to hereditary blood cancers How genetic testing can help monitor family members for early signs of cancer. The role of clinical trials to explore preventative treatments for those at risk.   Sarah is a genetic counselor with over 14 years of experience in cancer genetics, specifically leukemia and lymphoma. She is a widely sought expert on hereditary predispositions to hematologic malignancy, which has been the focus of her clinical care and research. Sarah works as a genetic counselor at the National Institute of Allergy and Infectious Diseases (NIAID).   Here are more resources related to today’s topic, blood and bone marrow cancers: National Marrow Donor Program and Be The Match Leukemia and Lymphoma Society Clinicaltrials.gov tracks all clinical trials available in the US Team Telomere - A Community for Telomere Biology Disorders RUNX1 Research Program Findageneticcounselor.org to find a genetic counselor near you   Any inquiries for All Access DNA podcast can be sent to [email protected]. Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.  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].

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• #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders

  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 second episode of a series focused on the evolution of UCD management, we discuss social determinants of health (SDOH) and how they impact patients with UCDs, examine the psychosocial burden of living with a chronic condition, and highlight how the multidisciplinary metabolic team can help patients and families overcome barriers to UCD management. Kendra J. Bjoraker, PhD, LP, is a pediatric neuropsychologist who specializes in rare genetic conditions. She served as faculty at the University of Minnesota and Children’s Hospital Colorado/University of Colorado and operates a dedicated practice, Bjoraker Neuropsychology Consultants, PLLC. Dr Bjoraker’s mission is to help identify and address psychosocial issues in patients with rare disorders in order to alleviate stressors associated with living with chronic conditions. Erika R. Vucko, APRN-NP, FNP, is a metabolic nurse practitioner at Ann & Robert H. Lurie Children’s Hospital of Chicago and faculty at the Northwestern University Feinberg School of Medicine. She is also the PKU Clinic Director at Lurie Children’s, co-created APRN metabolic follow-up clinic for patients with IEMs, and acts as a principal investigator for multiple clinical trials. She has provided clinical care for many patients with UCDs, among other genetic conditions. Her clinical interests include metabolic research, newborn screening, and lysosomal storage disorders. On This Episode, We Discuss: How socioeconomic and psychosocial factors impact a patient’s ability to engage in their UCD management Best practices and opportunities for multidisciplinary metabolic clinicians to support the care of patients with UCDs and their families Available resources to help patients navigate SDOH and mental health barriers to UCD management Related Episodes: Episode #323: Supporting Ongoing Urea Cycle Disorder (UCD) Care A discussion about how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs   Episode #282: The Evolution of Caring for Females With OTC Deficiency A conversation about ornithine transcarbamylase (OTC) deficiency, the most common UCD, and how care for symptomatic heterozygous females has evolved over time   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. This episode is sponsored by AMGEN.   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].   USA-RABU-80050 04/25

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

  Submitting a research paper for publication can be an overwhelming process, especially for early-career researchers. How do you choose the right journal? What are editors really looking for? And how can you improve your chances of acceptance?    To answer these questions and more we are joined by two editors from Wiley’s Advanced Portfolio. Dr. Lei Lei is a Senior Manager of Wiley’s Advanced Portfolio and Deputy Editor of Advanced Science. Dr. Alanna Gannon is Deputy Editor of Advanced Science and Advanced Healthcare Materials.    They both share insider tips on navigating the peer review process, selecting the best journal for your work, and setting yourself up for publishing success, whether you’re submitting your first paper or your tenth.   On This Episode We Discuss: How to choose the right journal for your research What editors look for when screening submissions Red flags that can lead to rejection Tips for writing effective cover letters and response letters to reviewers The benefits (and challenges) of open-access publishing  How AI tools like ChatGPT are already influencing the writing and reviewing process Current trends in genetics publishing and where the field is headed   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 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 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]. 

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