DNA Today: A Genetics Podcast

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 250+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.

Listen on:

  • Apple Podcasts
  • Google Podcasts
  • Podbean App
  • Spotify
  • Amazon Music
  • iHeartRadio
  • PlayerFM
  • Listen Notes
  • Samsung
  • Podchaser
  • BoomPlay

Episodes

7 days ago

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families. 
 
This episode was originally recorded for another podcast Kira Dineen produces, It Happened To Me, and which is hosted by Cathy Gildenhorn and Beth Glassman. 
 
Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango’s strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango’s lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women’s Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease.
 
A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000.  
 
During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore. 
 
Check out his wife, Myra Sack’s organization, Emotion, which is for grieving individuals to find community and cope with loss. In the next episode of It Happened To Me Myra Sack will come on the show to share about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi’s diagnosis, and how they celebrated her life. 
 
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 280 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 

Friday Mar 15, 2024

National Down Syndrome Awareness day is just around the corner on March 21st, since it’s the 21st day of the third month (a reference to the three copies of chromosome 21). 
 
To learn more about the condition and community we are joined by patient advocate, parent and Nurse, Jenness Stock. Jenness Stock (she/her) is a Nationally Certified School Nurse with a Masters Degree in Nursing Education. She is also a mother of five, and her youngest child had a prenatal diagnosis of Down syndrome. She is an active parent in the Down syndrome advocacy community, notably as a member of the Down Syndrome Diagnosis Network Medical Outreach Team. This team provides medical professionals with the tools and resources needed to discuss Down syndrome in a way that is supportive and educational at every stage. They share the most up-to-date evidence available to guide practitioners in delivering and discussing a diagnosis or screen result. 
 
Exploring Down Syndrome Advocacy:
Jenness shares her journey into the Down syndrome advocacy community and highlights the rewarding moments she has experienced as a parent and advocate.
 
Challenges and Support:
We delve into the challenges faced by individuals with Down syndrome and their families, discussing ways in which communities can offer support and foster inclusivity.
 
Navigating Healthcare Conversations:
Jenness reflects on her own experiences with healthcare providers during the prenatal diagnosis of Down syndrome, offering insights into effective communication and support.
 
Educating Medical Professionals:
As a trained nurse, Jenness discusses the intersection of her nursing background with her advocacy work, emphasizing the importance of education and awareness among medical professionals.
 
Down Syndrome Diagnosis Network:
Jenness provides valuable insights into the work of the Down Syndrome Diagnosis Network Medical Outreach Team, highlighting key resources and tools provided to medical professionals.
 
Empowering Parents:
Jenness offers advice and guidance to parents navigating a prenatal diagnosis of Down syndrome, drawing from her own experiences and journey.
 
Creating Inclusive Environments:
We explore the role of schools in creating inclusive environments for students with Down syndrome and other disabilities, discussing strategies for fostering acceptance and support.
 
Celebrating Down Syndrome Awareness Day:
As we approach National Down Syndrome Awareness Day, Jenness shares a heartfelt message about the importance of celebrating and supporting individuals with Down syndrome.
 
As we conclude our conversation with Jenness Stock, we are reminded of the power of advocacy, compassion, and community in embracing and celebrating individuals with Down syndrome. Join us in honoring their unique abilities, contributions, and the joy they bring to our lives.
 
During the interview Jenness provided resources, check them out below…
 
Down Syndrome Diagnosis Network's (DSDN) Resource for Medical Professionals 
Form to request materials from DSDN for providers and patients
GiGi’s PlayHouse
 
We recommend you also check out Glee Actress Lauren Potter on Episode #176. She shares her experience of having Down Syndrome including her advocacy and acting career. 
 
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 280 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 

Friday Mar 08, 2024

We are excited to welcome on the show Lori Bassett, a board-certified genetic counselor and the Director of Communications at the Greenwood Genetic Center (GGC). As GGC commemorates its 50th anniversary this year, Lori joins us to shed light on the center's remarkable journey, achievements, and contributions to the field of genetics.
 
Lori Bassett brings a wealth of knowledge and experience to our conversation as she shares insights into the Greenwood Genetic Center's mission, structure, and impact. Since 2010, Lori has played a pivotal role in GGC's communication efforts, ensuring that the center's groundbreaking work reaches a wide audience.
 
Exploring the Greenwood Genetic Center:
- Lori provides an overview of the Greenwood Genetic Center, highlighting its patient-centric approach to clinical genetic services, diagnostic testing, research initiatives, and education programs. Situated in Greenwood, SC, GGC serves as a beacon of hope and innovation in the field of genetics.
 
Founding and Motivation:
- Delving into the center's origins, Lori shares the motivation behind the establishment of GGC and sheds light on why it found its home in Greenwood, SC. Founded in 1974 by Dr. Roger Stevenson and Dr. Hal Taylor, GGC's journey began with a vision to provide comprehensive genetic services to individuals and families.
 
Unique Collaborative Divisions:
- Lori discusses GGC's unique structure, comprising four collaborative divisions: clinics, diagnostic labs, research, and education. Through partnerships, funding initiatives, and collaborations with institutions like MUSC, GGC continues to push the boundaries of genetic research and clinical care.
 
Milestones and Achievements:
- Reflecting on the center's 50-year legacy, Lori highlights key achievements and contributions, including groundbreaking discoveries in genetic mechanisms, advancements in diagnostic testing, and pioneering initiatives such as the Birth Defects Prevention Program and the Carroll A. Campbell Alzheimer's Initiative.
 
Current Initiatives and Future Outlook:
- Lori shares insights into GGC's current initiatives, including the Precision Medicine Initiative and the Carroll A. Campbell Alzheimer's Initiative - MitoSense, offering a glimpse into the center's ongoing commitment to innovation and excellence.
 
Engaging with GGC:
- For those eager to learn more about GGC and its groundbreaking work, Lori invites listeners to explore past podcast episodes and visit GGC's booth (#1201) at the upcoming ACMG conference. Don't miss this opportunity to connect with the GGC team and learn about the latest advancements in genetics.
 
In the episode we mentioned EpiSign, you can check out the newest version 5 that includes over 90 signatures. In Episode #145 of DNA Today we talked about this genome-wide methylation analysis. 
 
During the episode we also chatted about mitochondrial disorders, check out Episodes #170 
and #196 to learn more. 
 
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 275 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 

Friday Mar 01, 2024

Welcome to the first episode of DNA Dialogues, the official podcast of the Journal of Genetic Counseling. DNA Today’s Host/Producer Kira Dineen is on the production team of DNA Dialogues and is excited to share the first episode of the podcast!
 
Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Genetic Counseling that showcase the rare disease experience. The following interviews provide insight into the wider impact of rare disease, with a special focus on families.
 
Segment 1: “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”
 
Dr. Catherine Larson joins us in the first segment to talk about her recent article titled, “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”. 
 
Dr. Catherine Larson is a Child and Adolescent Psychiatrist and a sibling to Elizabeth, who has a Chromosome 18 deletion. After earning her undergraduate degree, she worked as a research assistant at the Chromosome 18 Research Center, where she began her research on Sibling relationships. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. As a practicing psychiatrist, she opened her private practice in Austin, Texas, and she also returned to join the research team at the Chromosome 18 Research Center.
 
Dr. Catherine Larson is double Board Certified by the American Board of Psychiatry and Neurology in General Psychiatry and Child and Adolescent Psychiatry. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. In addition to her private practice, she is currently an Adjunct Assistant Professor at The University of Texas Health School of Medicine at San Antonio. 
Segment 2 “Families' experiences accessing care after genomic sequencing in the pediatric cancer context: ‘It's just been a big juggle’”
 
Authors Sarah Scollon and Blake Vuocolo talk about their recent Journal of Genetic Counseling paper in the pediatric cancer space. 
 
Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine and certified genetic counselor for the Texas Children’s Hospital Cancer Genetics and Genomics Program. She has served in dual clinical and research roles across the course of her career. Her research interests engage the overarching themes of (1) adaptation of genetic counseling practice to implement evolving technologies (2) optimization of patient-provider communication and education and (3) equity and inclusion for diverse populations in genetic medicine and research. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for including genetic counseling into pediatric cancer care. She works to educate others on the role genetics and genomics can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint.
 
Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated from the Baylor College of Medicine Genetic Counseling Program in 2022, and her thesis work focused on access to follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Currently, her work focuses on exome and genome sequencing of medically underserved populations with undiagnosed diseases throughout Texas. Ms. Vuocolo is passionate about finding sustainable ways to improve genomic health equity worldwide. Her interests include exploring access barriers to receiving genomic care in different healthcare contexts and improving genetics education for non-genetics healthcare providers in under-resourced regions of the country and beyond.
 
Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. 
 
For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 
 
Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. 
 
DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. 
 
—-----------------------------------—-----------------------------------—------------------------
 
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 275 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 
 

Friday Feb 23, 2024

To continue our rare disease month celebrations (leading up to rare disease day on Feb 29th, the rarest day in the year), in this episode we chat with Sarita Edwards who’s son Elijah has Trisomy 18. 
 
Sarita Edwards (she/her) is the CEO & President at the E.WE Foundation, a global healthcare advocacy organization for families living with Trisomy 18 (Edwards Syndrome) and other rare diseases. Sarita's son Elijah was diagnosed in utero with Full Trisomy 18 which began her efforts of advocacy and public policy. Sarita is a 2021 world's top patient expert and social health ambassador. She is an award winning advocate, global speaker, and host of the Being Rare Podcast. Sarita is a legislative advocate providing insight on policy initiatives within her home state and across the country. Sarita has a Bachelor of Science in Health Science, a Masters in Healthcare Administration, and is a certified Mental Health Instructor. Sarita lives in North Alabama with her husband Kareem and their five children.
 
Exploring Trisomy 18:
- Sarita shares her personal journey and experiences upon learning that her son, Elijah, may have Trisomy 18, offering insights into her pregnancy and interactions with healthcare providers.
 
Challenging Misconceptions:
- Dispelling common misconceptions about Trisomy 18, Sarita sheds light on the realities and complexities of living with this condition.
 
Supporting Families:
- We delve into the challenges families face when caring for a child with Trisomy 18, exploring the vital role of organizations like the E.WE Foundation in providing support and resources.
 
Empowering Advocacy:
- Sarita discusses her introduction to the Trisomy 18 community, the inspiration behind founding the E.WE Foundation, and its evolution in supporting families worldwide.
 
Mission of the E.WE Foundation:
- Gain insights into the mission and goals of the E.WE Foundation, its commitment to supporting families living with Trisomy 18 and rare diseases, and the importance of raising awareness.
 
Advice and Guidance:
- Sarita offers heartfelt advice to parents navigating a diagnosis of Trisomy 18, drawing from her own experiences and journey with her son, Elijah.
 
Collaboration and Impact:
- Learn how the E.WE Foundation collaborates with healthcare professionals and organizations to enhance care and resources for individuals with Trisomy 18.
 
Future Hopes and Aspirations:
- Sarita shares her hopes for the future, envisioning advancements in awareness, research, and care for individuals with Trisomy 18.
 
We recommend listening to Episode #228 of DNA Today, highlighting the importance of continued education and awareness around Trisomy 18 and other rare diseases.Be sure to check out E.WE Foundation’s website for more info and resources. Keep your eye out for Kira’s guest appearance on Sarita Edwards’ podcast, Being Rare. 
 
The next episode of DNA Today will be an exciting announcement about a collaboration for a brand new podcast in the genetics research space, stay tuned for March 1st… 
 
New episodes are released every Friday. In the meantime, you can binge over 275 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 Ashlyn Enokian.
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 info@DNAtoday.com.

Friday Feb 16, 2024

In this episode, we're diving deep into the realm of targeted DNA methylation sequencing, a cutting-edge technology with vast implications for clinical diagnostics and research. Joining us are Chad Pollard, CEO and Co-Founder of Wasatch BioLabs, and Dr. Jonathon Hill, an expert in genomic and bioinformatic methods. Together, they shed light on the importance of DNA methylation, the intricacies of targeted sequencing, and the future of epigenetic analysis.
 
Chad Pollard, BS
CEO | Co-Founder
 
Chad, a PhD candidate of Cell Biology and Physiology at BYU, graduated with his bachelor's degree in Genetics, Genomics, and Biotechnology and is currently furthering his pioneering work on pre-symptomatic diagnostics for neurodegenerative disease. He focuses on implementing groundbreaking technology through Wasatch BioLabs to impact clinical care.
 
Dr. Jonathon Hill, PhD
VP of Science and Technology | Board Member | Co-Founder
 
Jonathon, an Associate Professor of Cell Biology and Physiology at BYU, develops innovative genomic and bioinformatic methods for gene expression analysis and variant detection. He studies the molecular genetics of congenital heart defects in his lab. He is a Fulbright Scholar and a BYU Early-Career Teaching Award recipient, having received his MS in Molecular Biology from the University of Colorado Health Science Center and a PhD in Genetics and Developmental Biology from Columbia University.
Understanding DNA Methylation Sequencing:
- An overview of DNA methylation and its significance in regulating gene expression and cellular function.
- Insights into how targeted DNA methylation sequencing works and the conditions that prompt its use in clinical and research settings.
- Chad discusses Wasatch BioLabs' motivation for incorporating targeted methylation assays into its sequencing services and how this capability addresses unmet needs in various settings.
 
Advantages of Oxford Nanopore Technologies' PromethION Platform:
- An exploration of the advantages of using the PromethION platform for targeted methylation analysis, including accuracy, coverage, sensitivity, scalability, and cost-effectiveness.
- Dr. Hill delves into the development process behind targeted sequencing technology for methylation analysis and considerations for panel design to ensure relevance and specificity.
- Measures taken by Wasatch BioLabs to ensure the accuracy and reliability of methylation data obtained through its targeted sequencing service, including quality control protocols.
- Challenges encountered in implementing targeted methylation assays on the PromethION platform and how Wasatch BioLabs has addressed these challenges.
 
Clinical Applications and Future Implications:
- Potential clinical applications of targeted methylation analysis for early diagnostics and personalized medicine, along with insights into disease mechanisms and therapeutic strategies.
- Walkthrough of the sample submission process and receiving results for the Targeted DNA Methylation Sequencing service, along with customization options available to researchers.
- Ongoing collaborations and partnerships involving Wasatch BioLabs to explore the utility of targeted methylation assays for various diseases and conditions.
- Chad and Dr. Hill share their excitement about the future of targeted methylation analysis and its potential contributions to advancements in research and healthcare.
 
Learn more on Wasatch BioLab’s website.
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 275 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 

Friday Feb 09, 2024

In this episode we're delving into the intricate landscape of ALS (Amyotrophic Lateral Sclerosis), commonly known as Lou Gehrig's disease. Returning to the show is Dr. Patrick Short, CEO and Co-Founder of the healthtech platform Sano Genetics. With his expertise in researching large-scale genome sequencing and rare disorders, Dr. Short provides invaluable insights into the genetics of ALS.
 
Dr. Patrick Short is a Cambridge-trained PhD geneticist with experience researching large-scale genome sequencing and rare disorders. He is CEO and co-founder of healthtech platform Sano Genetics, which is accelerating the world’s transition to precision medicine. Sano simplifies studies, working with pharmaceutical companies and biotechs to find, screen, and engage participants faster and more cost effectively; with researchers to increase efficiency and impact; and with patient advocacy groups to drive research with and for their communities.
 
Understanding the Role of Genetics in ALS
- Dr. Short sheds light on the role genetics plays in ALS and discusses potential non-genetic factors that contribute to the disease.
 
Genetic Factors and Risk for ALS
- Exploration of genes associated with a higher risk for ALS and whether they contribute to diagnosis or merely increase susceptibility.
 
Evolution of Understanding in ALS Genetics
- Dr. Short discusses how our understanding of ALS genetics has evolved in recent years and offers insights into future advancements.
 
Comparing ALS with Other Neurodegenerative Disorders
- Insights into how the genetic landscape of ALS differs from conditions like Alzheimer's and Parkinson's disease.
 
The "Light The Way" Program by Sano Genetics
- An introduction to Sano Genetics' free program, "Light The Way," designed for families affected by ALS.
- Eligibility criteria and the enrollment process for families interested in participating in the "Light The Way" program.
- Key objectives and expected outcomes of the "Light The Way" program, focusing on uncovering genetic risks for ALS.
 
Challenges in Large-Scale Genetic Studies
- Dr. Short discusses the complexities and challenges involved in conducting large-scale genetic studies focused on ALS.
 
Contributions to ALS Research and Therapy Development
- Envisioning how data collected can contribute to our understanding of ALS and the development of potential therapies.
 
Importance of International Collaboration
- Insights into the crucial role of international collaboration and data sharing in advancing genetic research and therapy development for ALS.
 
As we navigate the intricate genetics of ALS, Dr. Patrick Short provides a wealth of knowledge and perspective, offering hope for advancements in diagnosis, treatment, and ultimately, a cure for this devastating disease. Join us in this enlightening conversation as we strive to unravel the mysteries of ALS and pave the way for a brighter future.
 
If you enjoyed hearing from Dr. Short, listen to Episode #106 of DNA Today where he shared about the genetics of autism. Dr. Short also hosts Sano Genetics’ show, The Genetics Podcast; you can hear our host Kira Dineen on Episode #15. She will also be a panelist on Sano Genetics’ upcoming webinar exploring newborn screening, stay tuned! A few years ago, Kira was the writer of a Sano Genetics blog series, “Explained By A Genetic Counselor”. 
 
If you want to hear from a patient perspective we highly recommend Episode #16 of It Happened To Me with Brooke Eby. It’s the most popular episode of the podcast by far (nearly 10,000 views on YouTube)! Kira Dineen is also the Executive Producer of the show. 
 
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 275 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 

Friday Feb 02, 2024

Happy Rare Disease Month! Did you know why February was chosen? It's because it harbors the rarest day of the year, February 29th, which coincides with Rare Disease Day. To kick off this special month, we're thrilled to share a poignant episode of the "It Happened To Me Podcast," where rare diseases take center stage. 
 
Our host, Kira Dineen, is the Executive Producer of the "It Happened To Me" podcast and had the privilege of co-hosting this episode, delving into the complexities of Wolfram Syndrome. Our guest is a parent of a child with Wolfram Syndrome, while one of the hosts of the show (Cathy) also grapples with this condition. This unique dynamic led to a deeply insightful conversation, filled with personal experiences and valuable insights. We hope you'll enjoy and learn from this discussion as much as we did.
 
Wolfram Syndrome is a rare recessive genetic condition with profound implications. Our guest on this episode is Stephanie Snow Gebel, a parent and advocate who has dedicated herself to raising awareness and advancing research through the Snow Foundation for Wolfram Syndrome. Stephanie shares her journey as a parent of a child diagnosed with Wolfram Syndrome, offering insights into diagnosis, management, advocacy, and hope.
 
Understanding Wolfram Syndrome:
Stephanie describes Wolfram Syndrome, outlining its complex array of symptoms, including diabetes, optic nerve atrophy, vision loss, deafness, loss of taste and smell, and urinary and bladder dysfunction.
 
The Wolfram Journey:
Stephanie recounts her journey as a parent of a child with Wolfram Syndrome, from the initial noticing of symptoms to diagnosis and beyond.
 
Diagnosis and Symptoms:
Stephanie shares about her daughter’s symptoms and experiences with Wolfram Syndrome, shedding light on the challenges faced.
 
The Role of the Snow Foundation:
Stephanie discusses the creation and mission of the Snow Foundation, highlighting its impact in filling a void and driving research efforts forward.
 
Treatment and Management:
Insights into managing Wolfram Syndrome, including treatment of individual symptoms such as diabetes and vision loss.
 
Current Trials and Hope for the Future:
Stephanie provides updates on current trials, discussing the goals and implications for patients with Wolfram Syndrome.
Exploring the potential of trials to slow progression or offer hope for a cure.
 
Advocacy and Awareness:
The role of advocacy and organizations like The Organization for Rare Disorders in raising awareness and supporting patients with Wolfram Syndrome.
 
Life with Wolfram:
An update on Stephanie’s daughter’s current status, prognosis, and how she is managing with Wolfram Syndrome.
 
Closing Thoughts and Advice:
Stephanie shares her insights and advice for listeners, emphasizing the importance of advocacy, awareness, and hope in the face of rare diseases like Wolfram Syndrome.
 
As we conclude this insightful conversation with Stephanie Snow Gebel, we are reminded of the resilience, courage, and hope that shine through in the face of challenges posed by Wolfram Syndrome. Join us in raising awareness, supporting research, and fostering hope for a brighter future for individuals and families affected by this rare condition.
 
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.
 
Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today!
 
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 270 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 Ashlyn Enokian.
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 info@DNAtoday.com.

Friday Jan 26, 2024

As we delve into the intricacies of ENPP1 Deficiency Disorders, Dr. Yves Sabbagh and Christine O’Brien provide invaluable insights into genetics, diagnostics, treatment, and collaborative efforts between the patient community and pharmaceutical companies. Join us in this illuminating conversation, as we navigate the complexities of GACI and explore avenues for a brighter future in managing these conditions.
Yves Sabbagh, PhD, is senior vice president and chief scientific officer, joining Inozyme in October 2020. Dr. Sabbagh brings to Inozyme more than 20 years of experience in rare genetic disorders and mineral metabolism with responsibilities leading to the identification and evaluation of novel therapeutic approaches and translating them into clinical candidates.
Prior to joining Inozyme, Dr. Sabbagh served as the head of Rare Renal and Musculoskeletal Diseases research at Sanofi. Prior to that executive role, he held scientific roles of increasing responsibility at Sanofi and Genzyme Corporation spanning endocrine, renal and rare bone diseases including driving the strategy for bone indications. Prior to his corporate experience, he was an instructor at the Harvard Medical School in the Endocrine unit. Dr. Sabbagh has co-authored more than 40 peer-reviewed publications and book chapters and is a member of several scientific societies. Dr. Sabbagh received a BSc in biochemistry from McGill University, an MSc in microbiology from Université Laval and a PhD in biology from McGill University.
 
Christine O’Brien lives outside of Boston, Massachusetts with her husband Michael and their 3 children.  Her two oldest children are both living with ENPP1 Deficiency.  Her husband and son also have Loeys-Dietz Syndrome.  She is a founding member and co-president of GACI Global, the only patient advocacy group that exists for patients with GACI / ARHR2 caused by ENPP1 Deficiency or ABCC6 Deficiency.  Prior to joining the ranks of medical mamas everywhere who manage therapies, appointments, and medications, she was an elementary school guidance counselor.  Today, in addition to her work with GACI Global, Christine currently juggles raising children with part time jobs as a photographer and the director of customer service at British Swim School of Greater Boston.  
 
Episode Discussion Outline
 
Exploring the Genetic Causes:
- Dr. Sabbagh explains the genetic causes of GACI, shedding light on the involvement of genes such as ABCC6 and ENPP1.
- Does the gene involved determine the type of GACI?
 
Diagnostic Challenges and Genetic Testing:
- The necessity of genetic testing for diagnosis and potential programs to offset the cost to patients.
- Christine discusses the challenges patients face in obtaining an accurate diagnosis and the impact of the diagnostic odyssey on families.
 
Symptoms and Challenges Across Lifespan:
- Understanding the symptoms of ENPP1 Deficiency Disorders throughout the lifespan and the challenges they pose in disease comprehension.
- What signs should healthcare providers be aware of across different specialties?
 
Understanding PPi and Its Role:
- Dr. Sabbagh elaborates on the role of PPi in the body, highlighting differences in individuals with GACI and its implications.
 
Current Treatment Options and Unmet Needs:
- Insights from Dr. Sabbagh on existing treatment options and unmet medical needs in ENPP1 Deficiency disorders.
 
Partnerships and Collaboration:
- Christine provides insights into the partnership approach between patient communities and Inozyme Pharmaceuticals.
- How does Inozyme collaborate with the patient community to address challenges?
 
Hope for the Future:
- Dr. Sabbagh discusses INZ-701 and its potential in addressing the challenges associated with GACI.
- An overview of the clinical trial program underway for ENPP1 Deficiency treatment.
 
Future Hopes and Advancements:
- Christine shares her hopes for advancements in GACI research, diagnosis, and treatment, emphasizing the importance of continued progress.
 
Links Mentioned In Episode:
Prevention Genetics Genetic Testing Program for ENPP1 and ABCC6
 
Inozyme Pharma and Rady Children’s Institute for Genome Medicine’s Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infant (Including Suspected GACI)
 
GACI Global Organization
 
Inozyme 
 
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 270 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 Ashlyn Enokian.
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 info@DNAtoday.com.

Friday Jan 19, 2024

This episode was originally released on the Patient Empowerment Program podcast, where our host Kira Dineen serves as a Producer. Sometimes you might even hear Kira’s voice in promos and ads. 
 
In this podcast, Dr. Stan Crooke and Dr. Gleeson discuss the importance of genomics for neurology and how genetic information is changing how the medical community approaches neurological diseases.
 
Dr. Joseph Gleeson is n-Lorem’s Chief Medical Officer and holds a Rady Children’s Hospital Auxiliary Endowed Professorship of Neuroscience. He is an Investigator with the Simons Foundation for Autism Research Initiative, and an Elected Member of the National Academy of Medicine.
 
Diagnosing a rare disease can be incredibly difficult. Over the past 10 years, advances in genomic sequencing coupled with an explosion of research on the functional consequences of mutations in genes are reshaping how the medical community thinks about rare diseases. Being able to evaluate a patient’s entire genetic makeup often allows physicians to identify mutations in genes that are causal for disease.  These mutations can be common, meaning that they are found in many patients with a particular disease.  These mutations can be incredibly rare (often one patient in the world; n-Lorem refers to them as nano-rare).   For a patient that has a gene mutation that is rare, they often have no therapeutic options.
 
How many patients have mutations that have never been identified? Dr. Gleeson estimates that 90% of all gene mutations that have been identified in recent years have never been identified before.
 
Access to genome sequencing is becoming more and more available and as such, the rare-research community is finding it easier to diagnose patients properly with information from databases, leading to an influx of newly discovered gene mutations and n-of-1 individuals. Gleeson and his team at UCSD have identified that out of the over 2 million known human mutations, there is a viable path for ASO or gene therapy treatment for half of them.
 
On This Episode We Discuss:
The impact of genomic sequencing in medicine
The difference between a genotype and phenotype
How often a patient is identified with a genetic mutation unique to them
Focusing on the underlying cause of disease and not just treating symptoms
A viable path for treatment for how many gene mutations?
Why he chose to become n-Lorem’s Chief Medical Officer
 
Dr. Joe Gleeson studied chemistry as an undergraduate at UC San Diego. While in college, he frequently volunteered at a hospital and decided that practicing medicine would be a great way to apply his understanding of chemistry. Particularly, he wanted to figure out how the brain works while focusing on brain disease. Dr. Gleeson continued his education by attending the Pritzker Medical School at the University of Chicago, and then completed his residency and fellowship at Harvard. While in medical school, his eyes were opened to child neurology – understanding how the brain forms and how humans mature.
 
Immediately upon practicing pediatrics, Dr. Gleeson noticed that most patients suffering from rare diseases didn’t have or would never receive a diagnosis. It was obvious to him that to change the lives of these patients, researchers must learn more about the diseases to allow physicians to not just treat the symptoms, but to combat the gene to reduce the severity of the phenotypes.
 
Diagnosing a rare disease can be incredibly difficult. Genomics has made a massive difference in the medical field over the past 10 years by allowing doctors to see a patient’s entire genetic makeup. Finding a patient who is the only person in the world affected by a specific disease, or an n-of-1 patient, is surprisingly common. Gleeson estimates that 90% of all mutations identified are unique. As technology advances, the rare-research community is finding it easier to diagnose patients properly with information from databases, leading to an influx of newly discovered gene mutations and n-of-1 individuals. Gleeson and his team at UCSD have identified that out of the over 2 million known human mutations, there is a viable path for ASO or gene therapy treatment for half of them.
 
Dr. Gleeson also serves as the Chief Medical Officer of n-Lorem, aiming to address unique genetic mutations with ASO technology – the ultimate in personalized medicine. Excited and completely bought in, Dr. Gleeson is hopeful that n-Lorem will be able to successfully discover and develop personalized experimental ASO medicines for thousands of patients over the next decade – for free, for life.
Please be sure to check out more episodes of the Patient Empowerment Program podcast, just search the title in whatever podcast player you use to listen to DNA Today! Or head over to the podcast’s listing on here n-Lorem’s website. 
 
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 270 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 Ashlyn Enokian.
 
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 info@DNAtoday.com. 
 

Image

Your Title

This is the description area. You can write an introduction or add anything you want to tell your audience. This can help potential listeners better understand and become interested in your podcast. Think about what will motivate them to hit the play button. What is your podcast about? What makes it unique? This is your chance to introduce your podcast and grab their attention.

DNA Today, LLC 2012-2024

Version: 20230822