Trigger warning: In this episode sensitive topics are discussed including, but not limited to, miscarriage, sexual abuse, manslaughter, and child abuse.    On February 16th, 2024 the Alabama Supreme Court brought fertility care in that state to a screeching halt—and started a national conversation—by declaring that frozen embryos were people in the eyes of the law.   This is the first line of Laura Hercher’s Scientific American article, “How Arguments that Embryos Are People Pose a Threat to IVF''.   And we are lucky enough to have Laura joining us to discuss this!   For those that somehow don’t know Laura Hercher, you haven’t listened to enough episodes of DNA Today she has become our correspondent when major legislation happens that affects reproductive medicine, check those episodes out below.    #157 NSGC 2021 Recap (Texas Abortion Ban) #191 Overturning Roe v. Wade with Laura Hercher   Laura Hercher (she/her) is a genetic counselor and the Director of Student Research at Sarah Lawrence College’s Joan H. Marks Graduate Program in Human Genetics, where her research focuses on ethical, legal and social issues in genomic medicine. Her work as a commentator and journalist has been published in a wide variety of media outlets, including Scientific American, the MIT Technology Review, the Nation Magazine and the New York Times. At present, she is working on a book examining the societal implications of reproductive genomic medicine in the United States, tentatively entitled “The Ghettoization of Genetic Disease.”   On This Episode We Discuss:  Overview of the Alabama Supreme Court case and its ruling on the legal status of frozen embryos Definition of personhood and its implications for IVF and Republican politicians Implications of the ruling for couples seeking fertility treatment involving frozen embryos Impact of the ruling on the use of IVF for preventing hereditary conditions Considerations regarding legal liabilities and responsibilities for abandoned embryos Historical exemptions of IVF from abortion restrictions and its future under personhood laws Tensions between embryo recognition as individuals and practical IVF procedures Potential changes in availability and affordability of IVF due to legal implications Precedents from other countries and legal systems regarding IVF and embryo personhood  Role of the U.S. Supreme Court in adjudicating similar reproductive rights cases Teaser for Laura Hercher’s upcoming book on the societal implications of reproductive genomic medicine   If you listened until the end of the episode, you heard Laura Hercher’s breaking news. No spoilers, but now you have to listen to our episode about how accurate the genetics in the 1997 movie Gattaca is today, that’s Episode #110.  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. 

We delve into the intricate intersection of genetics and cardiac health, exploring the profound impact of genetic insights on patient care and treatment decisions. Joining us are two distinguished guests from Blueprint Genetics, Julie Hathaway and Susan Christian, both seasoned genetic counselors specializing in cardiovascular health. Their expertise promises to illuminate the complexities of genetic testing in cardiac conditions, offering valuable insights into familial risk assessment, intervention strategies, and emerging trends in personalized medicine.   Susan Christian is a certified genetic counsellor with Genetics & Genomics with Alberta Precision Labs and is cross appointed to the Medical Genetics Clinics with Alberta Health Services.  She completed a MSc in Genetic Counselling from the University of British Columbia in 1999 and a PhD in Medical Genetics from the University of Alberta in 2019.  Her research focus is on genetic counselling and inherited heart disease.   Julie Hathaway is an American and Canadian Board certified genetic counselor. She was introduced to cardiac genetics early on in her career and this remains her main area of interest in the field. As a Clinical Liaison at Blueprint Genetics, Julie provides both internal and external clinical support and education. In addition, she contributes to research and creating scientific content.   Exploring Genetic Cardiac Conditions: - Deciphering the two main types of cardiac conditions: structural differences and rhythm abnormalities, providing clarity on their distinctions and clinical implications.   Identifying Familial Risk: - Key clues in family histories that may indicate inherited cardiac conditions, emphasizing the importance of early detection and intervention.   Challenges in Testing Deceased Patients: - The challenges laboratories face in testing deceased patients, highlighting the complexities of obtaining samples and interpreting limited phenotypic data.   Family Testing and Intervention: - The significance of testing family members after identifying a familial variant, discussing intervention strategies and clinical trial eligibility.   Patient Impact of Genetic Test Results: - How genetic test results impact patient management, including decisions regarding clinical trial eligibility and implantable cardioverter-defibrillator (ICD) implantation.   Genetic Testing Panels and Exome Sequencing: - The selection of genetic testing panels, discussing the considerations for panel size and the circumstances warranting exome sequencing.   Addressing Emotional and Psychological Aspects: - The vital role of genetic counselors in supporting patients and families through the emotional and psychological aspects of genetic testing for cardiac conditions.   Ethical Considerations and Future Trends: - The ethical considerations of genetic testing in pediatric cases and explores the future of genetic testing and personalized medicine in cardiology.   Be sure to check out Blueprint Genetics’ cardiac genetic testing options including over 20 panels.   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. 

Ornithine transcarbamylase deficiency (OTC-D) is the most common urea cycle disorder (UCD) and is inherited in an X-linked manner. Females with OTC-D are affected to varying degrees. Some female patients will develop chronic and nonspecific symptoms, such as headaches, and all women with OTC-D are at risk of experiencing hyperammonemic crises. Additionally, recent studies suggest these women can experience neurocognitive changes even though they may appear to be “asymptomatic” or have mild symptoms. As our understanding of the disease has evolved, so too have the ways in which we refer to these women and approach their care.   In this episode, we’re delving into the evolution of caring for heterozygous females with OTC-D, including the unique challenges to diagnosis and management of these patients with variable and nonspecific symptoms.   Joining us are two esteemed guests well-versed in the unique needs of females with OTC-D.   Annette Feigenbaum, MBChB, FRCPC, DABMG (Rady Children’s Hospital and University of California San Diego), is a metabolic geneticist with over 30 years of experience in the field. She recently retired from her clinic role at Rady Children’s Hospital, where she served as an associate physician for the past 12 years. She and her team recently published a case report on the prenatal and postpartum management of a female with OTC-D. She has also published an overview of the challenges of managing female heterozygotes with OTC-D.   Joshua Baker, DO (Ann & Robert H. Lurie Children’s Hospital of Chicago), is a metabolic geneticist and the director of the Inborn Errors of Metabolism Program in the Division of Genetics, Genomics, and Metabolism. He and his team recently published a case report on a family with variable manifestations of OTC-D.   On This Episode, We Discuss: How our understanding and approaches to managing heterozygous females with OTC-D have changed over time Management challenges unique to females with OTC-D and best practices for encouraging continued engagement in their care Opportunities to support the care of females with OTC-D   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 is 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. 

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. 

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. 

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. 

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.   

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.

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. 

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.