Two-time Emmy-winning celebrity chef Sandra Lee joins the show. Known for her innovative “Semi-Homemade” cooking style that revolutionized how millions approach the kitchen, Sandra is not just a culinary icon but also a dedicated advocate for health and wellness.    In honor or breast cancer awareness month, we chat about her courage and openness in sharing her personal battle with breast cancer, most notably through her raw and impactful HBO documentary “RX: Early Detection – A Cancer Journey with Sandra Lee,” have made her a powerful voice in the fight for early detection and cancer awareness.    As if that wasn’t enough, Sandra is the creator and co-host of the new hit Netflix show, “Blue Ribbon Baking Championship”. The show has already cracked a “Top 10” list on Netflix.    In this conversation, we’re diving into Sandra’s incredible journey—from her rise to fame as a beloved television personality to her deeply personal fight against cancer and her ongoing efforts to champion health causes.    A note on the audio quality: As Sandra Lee mentions during the show, she was on vacation when we recorded this and her only option was to call in for the interview. So we did our best to improve her audio file, but it’s not our typical sound.    During the episode we couldn’t recall the name of the dog show on Thanksgiving, it’s The National Dog Show.    We also mentioned Sandra Lee’s first podcast appearance was on this episode of The Kim Gravel Show.    And Sandra Lee was close, it was a 7 year old who won a blue ribbon at a county fair this summer, here’s the story.    Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller.    Dr. Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare diseases. He is a Senior Scientist at CHEO Research Institute. He is also a Professor of Neurology at the University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine.    CMS is a group of rare inherited neuromuscular conditions caused by defects at the neuromuscular junction. While CMS shares similarities with Myasthenia Gravis (MG), it has distinct genetic causes and onset patterns that make diagnosis and treatment challenging. Dr. Lochmüller walks us through the evolution of CMS research, highlighting the advances made possible by new sequencing technologies. Thirty years ago, only two genes were known to cause CMS; now, there are 35 identified genetic causes. This episode offers a comprehensive look at CMS symptoms, diagnostic approaches, and treatment strategies, as well as the important role genetic testing plays in accurately diagnosing and managing CMS. Topics Covered in This Episode: Dr. Lochmüller’s Background and Expertise: How his work in CMS has evolved over the past 30 years.Key Differences Between CMS and Myasthenia Gravis (MG): The autoimmune vs. genetic origins, age of onset, and differences in symptoms between the two conditions.Genetic Testing for CMS: How advancements in genetic testing have transformed the diagnosis of CMS and allowed clinicians to better differentiate it from other neuromuscular disorders.Challenges in Diagnosing CMS: Why some patients are misdiagnosed with muscular dystrophies or unspecific myopathies, and how larger neuromuscular panels and exome sequencing are improving diagnosis.Common Symptoms of CMS: Ptosis, muscle weakness, and fatigue are key indicators, often seen in the absence of muscle degeneration.Treatment Approaches for CMS: How treatment depends on the genetic mutation, with drugs like Mestinon benefiting some patients but worsening symptoms in others, such as those with DOK7-related CMS.The Role of Repetitive Nerve Stimulation Tests: How this diagnostic tool helps identify neuromuscular transmission defects.Importance of Genetic Diagnosis: How a full genetic diagnosis can provide clarity for patients and improve quality of life by guiding targeted treatment options.Treatabolome Database: A resource that links specific genetic mutations to the most effective treatments for CMS. Dr. Lochmüller also shares insights into the variability of CMS symptoms and the resilience of patients living with the condition. He highlights the importance of a genetic diagnosis, as it often brings relief and provides a roadmap for effective management of the disease. Learn more about ongoing research in CMS  here.  Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

We’re recapping and reflecting on the 43rd National Society of Genetic Counselors (NSGC) Annual Conference that took place in vibrant New Orleans. As always, the sense of community was incredible, and this year was no exception.    I had the privilege of reconnecting with past guests, sponsors of the show, classmates, and meeting new people. It’s always surreal to meet so many listeners in person—thank you for all your kind words and support! Producing a weekly episode since 2022 has been a labor of love, and this conference gave me the extra boost of motivation to keep going strong.   In this recap episode, I had the chance to chat with attendees about their favorite moments from the conference. All these mini interviews were with genetic counseling students who shared what they learned at the conference. Students were from three programs: University of Pittsburgh, Baylor College of Medicine, and Sarah Lawrence College.    We also took a deeper dive into one of the standout sessions, “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability” which was moderated by Courtney Studwell, MS, CGC. I caught up with another friend, Jovanni Cuevas, MS, CGC, to debrief on what we learned from the session.    All these interviews were recorded in person at the conference, so you might hear a little background noise, but it adds to the ambiance of the lively event! Sessions References During The Episode: - “NSGC 2024 State of the Society Address”  - Breakfast with Biomarin “A Deeper Look Into Achondroplasia” - “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability” - Professional Issues Panel “Genetic Counseling around the Globe” Insights, Lessons, and Collaboration for a Future-Proof Profession” - “Take it at Faith Value: A Look at the Needs of Genetic Counseling in the Hindu, Pakistani Muslim, Church of Jesus Christ of Latter-day Saints (Mormon), and Orthodox Jewish Communities”  - “Beverly Rollnick Memorial Lecture: Ordering “The Cure” with a Side of Trepidation: The Challenges of Gene Therapy for Sickle Gene Disease” DNA Today Podcast Episodes Mentioned: #110 Gattaca, 22 Years Later #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #301 Dwarfism with Colleen Gioffreda #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care #305 Transformative Therapies for Sickle Cell Disease with “Through The Genes” #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19   Curious about other NSGC conferences? We have recapped the last six years of conferences including 2019, 2020, 2021, 2022, and 2023.  Other References During The Episode: - Little People of America (LPA) - Metabolic NSGC Special Interest Group (SIG) - DNA Dialogues, Journal of Genetic Counseling’s Podcast - The Road to Wisdom By Dr. Francis Collins    It was such a meaningful experience to be part of the NSGC 43rd Annual Conference. Whether you joined us in New Orleans or attended virtually, I hope you found the sessions, panels, and networking just as inspiring as we did.   Don't forget to mark your calendars! The 44th NSGC Annual Conference is happening next year in Seattle, WA from November 7-10, 2025. We are already excited to drink lots of Seattle coffee with fellow genetic counselors.    Are you going to the American Society of Human Genetics (ASHG) Annual Conference in Denver, CO in November? Keep your eye out for our host Kira Dineen, who will mostly be in the exhibit hall. Just like this episode, she would be excited to record with you about what you learned at the conference. She also might give you DNA Today merch!   Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

In this special episode of DNA Today, we are honored to be joined by one of the most influential figures in modern science, Dr. Francis Collins.    Dr. Collins served as the Director of the National Institutes of Health (NIH) during one of the most critical periods in modern history, including the height of the COVID-19 pandemic. He is also renowned for leading the monumental Human Genome Project, a landmark achievement that revolutionized genetics. Dr. Collins's groundbreaking work includes the discovery of the CFTR gene, which has been crucial in advancing treatments for cystic fibrosis. He is the author of several books, including his brand new book, The Road to Wisdom. Don't forget to enter our giveaway for a copy, links further down.  In this episode, we dive into this new book, which releases on September 17th, 2024. We discuss the insights he has gained throughout his remarkable career, the challenges of bridging science and spirituality, and his reflections on moments of triumph and failure. Dr. Collins also shares personal stories, including his discovery of faith, the difficulties faced during the Human Genome Project, and the challenges of transitioning between political administrations as NIH Director. Key topics discussed include: Dr. Collins's experience discovering the CFTR gene and its impact on cystic fibrosis researchThe most critical moments of the Human Genome Project and how it reshaped our understanding of geneticsReflections on his tenure as NIH Director, serving under three U.S. presidentsHis response to the COVID-19 pandemic and lessons learned for future public health crisesThe role of trust between scientists and the public, and how we can combat misinformationHis thoughts on the intersection of faith and science, and how his beliefs have shaped his careerA special call to action from Dr. Collins’s book: a pledge to reduce animosity, be generous in spirit, and commit to sharing objective truths Stay tuned until the end for details on our exciting giveaway! We’re offering listeners the chance to win copies of Dr. Collins’s new book, The Road to Wisdom. Links Mentioned in the Episode: Enter our giveaway for a chance to win The Road to Wisdom on Instagram, LinkedIn and Twitter/X. Sign Dr. Collins's Pledge hosted on Braver Angels for a kinder, more understanding world Check out the organization Dr. Collins’ mentioned: Biologos    Our episode next week will be a tad delayed; it will be a recap of the National Society of Genetic Counselors Annual Conference, which doesn’t wrap up until Saturday, September 21st. But don’t worry we are quick with edits and will have the episode to you after the conference ends.  In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

On Episodes #288 and #289 of DNA Today, I spoke with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease (SCD) symptoms. Since then, I’ve met two amazing patient advocates—Wunmi Bakare and Dima Hendricks—who also have Sickle Cell Disease. They've expanded my understanding of gene therapy and other emerging treatments for SCD, and perfect timing to kick off Sickle Cell Disease Awareness month this September.  In this episode, Wunmi Bakare and Dima Hendricks share their personal journeys with SCD and delve into their experiences exploring curative therapies. They also discuss their new podcast, Through The Genes, launched on World Sickle Cell Day (June 19th, 2024). Their show offers an insightful look into the risks, benefits, and limitations of gene- and cell-based therapies for Sickle Cell Disease. Topics Covered in This Episode: Wunmi and Dima’s personal experiences living with Sickle Cell Disease and their exploration of curative therapies Available curative therapies for Sickle Cell Disease, including stem cell transplants and gene therapyThe obstacles that prevented Dima from qualifying for gene therapyWunmi’s stem cell transplant experience, including the procedure, recovery process, and symptom changes post-transplantThe use of the term “cure” in the context of gene therapy for Sickle Cell Disease—how it may create misconceptionsThe importance of managing expectations around gene therapy and its long-term effectsHow mental health has played a significant role in their SCD journeys, including the emotional aspects of undergoing transformative therapyThe crucial role of support systems—family, friends, and healthcare providers—during and after treatmentWunmi’s post-stem cell transplant follow-up care and the importance of continuity in care after gene therapyThe harsh reality of medical racism faced by those living with Sickle Cell Disease, and how Wunmi and Dima navigate and advocate within the healthcare systemTheir hopes for the future of Sickle Cell Disease treatment and advice for others considering gene therapy   Our Guests:   Wunmi Bakare is a multicultural citizen and advocacy trailblazer in the sickle cell and rare disease communities. Fueled by purpose and the pursuit of social inclusion, her advocacy efforts focus on erasing the stigma of sickle cell disease through proactive and reactive engagement with the media.   She sits on the curative therapy advisory board for Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, and Healthful Data and is a patient ambassador for Health Union and AllStripes. She was diagnosed with the most severe type of sickle cell disease (HbSS) at 18 months then participated in a clinical trial at the National Heart, Lung and Blood Institute (NIH-NHLBI) where she received an allogeneic stem cell transplant in 2019.   Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a platform that celebrates the lived experience of sickle cell patients globally.   Dima Hendricks, a resilient sickle cell advocate and co-founder of #ThroughThePain Inc., has dedicated over two decades to championing health awareness. Her journey includes conducting health workshops and contributing to various panel discussions. Collaborating with esteemed organizations like the American Red Cross and the American Heart and Stroke Association, Dima has extended her impact in the health community.   In addition to her advocacy, Dima has an impressive history in pageantry. She has earned titles such as Miss Black Dorchester USA, Miss Black Massachusetts USA, Mrs. Massachusetts International, and the 2024 International Mrs New England. Her experience in the pageant world spans over ten years, during which she has taken on roles as a director, coach, and judge. Dima's inspiring story of overcoming obstacles is captured in her book "Unleashing Royalty," where readers can discover her journey to triumph.   During the episode we also mentioned #BoldLipsForSickleCell (Now Bold Plus+).  Wunmi Bakare and Dima Hendricks are passionate patient advocates and hosts of Through The Genes, a podcast dedicated to educating and empowering those affected by Sickle Cell Disease. Both Wunmi and Dima use their personal experiences with SCD to raise awareness and spark change within the medical community, focusing particularly on the potential of gene therapies. Stay tuned for part two of our conversation, where I’ll be a guest on their show, Through The Genes, to continue this important dialogue! You can listen by searching “Through The Genes” in your podcast app or on their website ThroughTheGenes.com and follow the show on Instagram, LinkedIn, and Facebook. You can personally follow Wunmi Bakare and Dima Hendricks as well. Not only is it an audio podcast, but like us, they also produce it as a video podcast and you can watch all episodes here.  Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer 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.

Content/Trigger Warning: This conversation includes sensitive topics of sexual abuse, violence, suicide, and homicide. It is not suitable for younger audiences.    We delve into the complex and deeply personal story of the Galvin family, which has played a significant role in the history of schizophrenia research. Our guest, Lindsay Mary Galvin Rauch, is the youngest of twelve siblings in the Galvin family, six of whom were diagnosed with schizophrenia. Their family's genetic material has been a cornerstone of nearly every major genetic study on the disorder since the 1980s, contributing invaluable insights into the genetic underpinnings of schizophrenia.   Lindsay shares her unique perspective growing up in a large family profoundly affected by mental illness, as chronicled in Robert Kolker's award winning book Hidden Valley Road and the HBO 2024 documentary Six Schizophrenic Brothers.    Hidden Valley Road has achieved a long list of accolades…    Instant #1 NEW YORK TIMES best-sellerOfficial selection of OPRAH’S BOOK CLUBA NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the YearPEOPLE ’s #1 Best Book of the YearNamed a Best Book of the Year by NPR, Time, Slate, Smithsonian, Forbes, Audiophile, Parade, Kirkus, Library Journal, Publisher’s Weekly, the Evening Standard (UK), the Sunday Times (UK), The New York Post, and AmazonFinalist, PEN/John Kenneth Galbraith Award for NonfictionFeatured in PRESIDENT BARACK OBAMA’s list of favorite books of the year   Lindsay's life's journey inspired her evolution from victim and survivor to advocate and thriver. She enjoys sharing her story of the courage to heal and fortitude in adversity. The hope for greater compassion for those affected and their families is her north star. Lindsay is a board member of The Henry Amador Center on Anosognosia and Well Power (formally the Mental Health Center of Denver).   Beyond discussing the scientific impact of her family's contributions, Lindsay opens up about her personal experiences, including the challenges of living with so many siblings diagnosed with schizophrenia, the role of trauma in mental health, and her decision to take on the responsibility of caring for her brothers later in life.   Listeners will gain insights into the following topics: The Galvin family's pivotal role in schizophrenia research and the discovery of a SHANK2 gene mutation linked to the disorder.The varied symptoms of schizophrenia among her brothers and what this diversity reveals about the condition.The impact of trauma on the onset of schizophrenia symptoms, and how this played out in her family.The challenges and responsibilities of managing care for siblings with schizophrenia, including the effects of medications, electroshock therapy, and the issue of anosognosia (lack of insight into one's illness).The ongoing stigma surrounding schizophrenia and the need for societal change to better support those with mental health disorders.The process of genetic testing for the SHANK2 familial mutation and the decisions made regarding her own children.Lindsay’s reflections on personal resilience, mental health, and her hopes for the future of schizophrenia research.   During the interview we mentioned a couple content/resources to check out including… “The Immortal Life of Henrietta Lacks” by Rebecca Skloot (Check out Episode #34 of DNA Today where descendents of Henrietta Lacks were interviewed) “The Collected Schizophrenias: Essays” by Esmé Weijun WangSpotlight Documentary Directed by Tom McCarthyNational Alliance on Mental Illness (NAMI)Patrick J. Kennedy’s Books, “Profiles in Mental Health Courage” and “A Common Struggle”LEAP Institute    Also during the episode Kira and Lindsay Mary weren’t confident about the name of the therapy that Peter was receiving. They should have been, as they got it right, electroconvulsive therapy (ECT).    Lindsay has been launched onto the international stage due to her family's story. She has spoken for the Psych Congress, The NEI Conference, and many other prestigious programs. Speaker Inquiries are accepted at lindsaymarygalvinracuh.com. and donations to assist with her brother's care can be made at GalvinFamilyTrust.org.    Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

We have wanted to explore the role of RNA analysis in genetic testing for a long time on DNA Today, but waited until we could get THE leader in the space, Ambry Genetics. The Vice President of Research and Development and head of their Translational Genomics lab, Dr. Rachid Karam, was kind enough to come on to have this long awaited conversation.   We'll discuss Ambry Genetics' history of innovation in RNA testing, how it has increased diagnostic yield and reduced Variants of Uncertain Significance in hereditary cancer testing, and its role in closing health disparity gaps. We'll also introduce ExomeReveal, Ambry’s new exome testing product that includes RNA analysis, extending our expertise to rare diseases.   Dr. Rachid Karam obtained his M.D. in 2003 at UFCSPA in Brazil, and his Ph.D. in Oncogenetics in 2008 at the University of Porto, Portugal. During his Ph.D. he studied the role of the tumor suppressor gene CDH1 in cancer predisposition. He did his postdoctoral fellowship at the University of California San Diego (UCSD) from 2009 to 2014 where he studied the role of the NMD mRNA surveillance pathway in cancer. He joined Ambry Genetics in 2014 and is now Ambry’s Vice President of Research & Development. His work focuses on strategies to improve the positive yield of clinical genetic testing, including the clinical implementation of new technologies such as RNA-seq and Long-Read sequencing. He also actively participates in several ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing results, such as the BRCA1 and BRCA2 Variant Curation Expert Panel (VCEP) and is currently the co-chair of the ClinGen CDH1 VCEP.   Discussion Topics: Ambry Genetics' Leadership in RNA Analysis:The journey of Ambry Genetics in becoming a pioneer in RNA testing.Initial challenges and breakthroughs in RNA analysis. Mechanics and Benefits of RNA Testing:How RNA testing works and its role in accurately classifying genetic variants.The impact of RNA testing on increasing diagnostic yield and reducing VUS in hereditary cancer testing.The process of reclassifying variants from VUS to likely pathogenic or benign using RNA analysis. Concurrent DNA/RNA Analysis:The rationale behind Ambry's preference for concurrent DNA/RNA analysis.Potential future shifts in the necessity of concurrent analysis as RNA evidence accumulates. Addressing Health Disparities:Benefits of RNA testing for non-white patients in hereditary cancer testing. Introducing ExomeReveal:Integration of RNA analysis into Ambry's new exome testing product, ExomeReveal.Importance of RNA analysis for splice site variants identified during exome testing.Comparison of ExomeReveal to standard exome tests in terms of diagnostic yield. Case Studies and Future Directions:Example case demonstrating the clarity and diagnosis provided by RNA analysis.Expectations and anticipated outcomes for extending RNA expertise to rare diseases. Implications for Genetic Counseling and Patient Management:Integration of RNA testing into exome and hereditary cancer testing and its impact on genetic counseling.Evolution of patient management as RNA testing integration improves. During the episode we referenced three other episodes of DNA Today… #95 Kieger Family on Familial Adenomatous Polyposis #297 Exome Reanalysis with Ambry Genetics #299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita Thanks again to Dr. Rachid Karam for helping us uncover the transformative potential of RNA analysis in genetic testing and its far-reaching implications for patient care. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. 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.

As many of our listeners know, our host Kira Dineen is a member of the LGBQTIA+ community and thought this was an important episode to share with listeners. She is also on the DNA Dialogues team and is always excited to share episodes.    In this episode of DNA Dialogues we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for the month of June. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Use of gender-inclusive language in genetic counseling to optimize patient care”   Heather Motiff graduated with a B.S. in Psychology from the University of Wisconsin-Whitewater in 2006. She has extensive experience working as a crisis response advocate and co-facilitating support groups for survivors of intimate partner violence. Heather discovered her interest in genetic counseling during her first pregnancy in 2010. She has served as a Community Resource Specialist and contributed significantly to gender-affirming care initiatives during her graduate studies at UW-Madison. Heather is now an oncology genetic counselor at SSM Health Cancer Care in Madison, WI, and is dedicated to providing inclusive, quality healthcare and genetic services.   In this segment we discuss: Specific examples and terms used in gender-inclusive language.Comfort levels of genetic counselors with using gender-inclusive language.Findings from thematic analyses on the use of gendered language and its impact on patient care.Suggestions for additional training resources for healthcare professionals. Segment 2 “Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”   Sarah Roth is a genetic counselor and a PhD candidate in Anthropology at Johns Hopkins University. She is a BRCA1 carrier whose research focuses on the experiences of patients, communities, and providers in cancer care and genomic medicine. Sarah has been a founding editor of Tendon at JHU’s Center for Medical Humanities & Social Medicine, a contributing writer at Synapsis: A Health Humanities Journal, and a recent predoctoral fellow in Bioethics at the National Institutes of Health.   In this segment, we discuss: Challenges faced by TGD individuals in accessing hereditary cancer care.Participants' perspectives on gendered language in healthcare.Actionable recommendations for healthcare providers to support TGD individuals with hereditary cancer syndromes.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Be sure to check out other episodes of DNA Dialogues by searching “DNA Dialogues” in your favorite podcast app or here. 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 our own, 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 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Colleen Gioffreda was such a dynamic and charismatic guest in this episode of “It Happened To Me” we had to share it on DNA Today! Our host Kira Dineen is the Executive Producer on this podcast and joins as a guest host in this episode.    Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases.    In her volunteer life, Colleen is LPA’s Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA’s Medical Advisory Board.    Colleen is lucky enough to answer to the name of ‘Mom’ to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life.    Episode Highlights:   Understanding Terminology and Accommodations: Appropriate terms for individuals with achondroplasia and skeletal dysplasias.Vital accommodations for people with dwarfism in various aspects of life.   Home Modifications and Misconceptions: Recommended home alterations for individuals affected by dwarfism.Addressing misconceptions and stereotypes about dwarfism in her work.   Employment and Workplace Challenges: Employment roadblocks faced by little people and necessary workplace accommodations.   Career Path and Key Responsibilities: Colleen’s journey towards helping the skeletal dysplasia community.Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.   School and Social Resources: Providing school and social resources to patients and parents.Importance of this support in managing skeletal dysplasias.   Adoption Advocacy: Motivations for becoming involved in adoption advocacy.Experiences and insights from facilitating adoptions of children with dwarfism.Countries with higher frequencies of children with dwarfism waiting to be adopted.   LPA Conference Management: Involvement in the LPA Conference Management Committee and the significance of organizing conferences.Memorable and rewarding experiences supporting individuals and families.   Parental Support: Approaching support and resources for parents raising children with achondroplasia.   Community Advocacy and Medical Collaboration: Pressing issues within the dwarfism community and advocacy efforts.Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints.Collaborating with medical professionals and researchers to advance understanding and treatment.   Personal and Professional Perspective: Influence of personal experience with achondroplasia on professional approach.Current initiatives and projects to support individuals with skeletal dysplasias.   Future Hopes and Advice: Hopes for the future of care and support for individuals with dwarfism.Advice for professionals and volunteers supporting individuals with rare genetic conditions.   Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias. Be sure to check out more episodes of “It Happened To Me”.    Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer 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.

Discover New Advances in the world of genetics. From genetic technology like CRISPR to rare diseases to new research. For over a decade host Kira Dineen has chatted with leaders in genetics like NBC’s Maury Povich, BBC’s Dr. Adam Rutherford, NIH’s Dr. Eric Green, NYT’s Carl Zimmer, NYU’s Dr. Arthur Caplan, NYer’s Dani Shapiro, and descendents of Henrietta Lacks.  The show has consistently been ranked in the top 1% of podcasts worldwide, has won the Best Science and Medicine Podcast Award for three consecutive years (2020-2022), and is backed up over 70 sponsors.  Who is featured as a guest in this teaser trailer? It's Victoria Gray! Hear the full interview on Episode 288 and 289.

How many biological children can one sperm donor create? What are the regulations surrounding donor sperm? How can prospective parents verify the sperm donor they selected is in fact the sperm they used to conceive?   The answers are shocking.   For two weeks “The Man With 1,000 Kids” was #1 on Netflix. As of this recording in late July 2024, it has amassed 5.5 million views. It is a documentary series that captures the impact one sperm donor has had on hundreds, or more likely thousands, of families around the world.    We're diving into this shocking story of fertility fraud with two people featured in this top streamed documentary. Eve Wiley is a leading advocate against fertility fraud after discovering that she was conceived with a different sperm donor than her parents were told. Laura is an Australian parent who discovered her two children’s sperm donor was a serial sperm donor Jonathan Jacob Meijer, whose impact is explored in this Netflix documentary series.  Episode Topics: How Eve, who was donor conceived, connected with Laura, who’s kids are donor conceivedEve’s motivation to become an advocate against fertility fraud, including her discoveries about her sperm donor and the impact on her family.Laura and her partner, Kate’s reactions to discovering the notoriety of their sperm donor, Jonathan Jacob Meijer, and the mysterious message about his actions.The emotional and psychological journey Laura and her partner have undergone since discovering the truth about their child’s biological origins.The implications of Jonathan’s refusal to share a list of his biological children, and the potential benefits such a list could offer to society and affected families.Genetic and psychological risks associated with widespread and unregulated sperm donation.Long-term concerns about inbreeding and the role of genetic sexual attraction in these situations.Current regulations and oversight of sperm donation, including the trial in the Netherlands and its significance in controlling male body autonomy.Comparison of sperm donation regulation to other areas of reproductive health.Current legislation in the United States regarding sperm donation and Eve’s efforts to change laws in Texas and other states.Challenges in advocating for fertility fraud legislation and ways people can support these efforts.Eve and Laura’s experience of having their stories featured on Netflix and the documentary’s impact.Jonathan’s actions post-trial, including his media appearances and any updates or public statements from him.Advice for individuals considering using sperm donation to start their families, with a focus on the importance of transparency and honesty in fertility treatments.Supporting children as they grow older and learn about their biological origins.The significance of making the New York Times front page with Jonathan’s story.The most challenging aspects of dealing with the situation.Messages for other families who might find themselves in similar situations.How society should address the issue of fertility fraud and ways people can get involved in advocating for stronger laws.   Takeaways Fertility fraud is a significant issue that affects families worldwide, and there is a need for legislation to address it.Genetic identity is crucial, and individuals have the right to know their biological origins.The fertility industry lacks proper regulations, leading to cases of fraud and potential risks of inbreeding.Support and advocacy are essential for donor-conceived individuals and their families. The lack of transparency and regulation in the sperm donation industry has led to cases of fraud and deception, with donors having more offspring than initially disclosed.There is a need for standardized guidelines and monitoring in the industry to ensure transparency and informed consent for all parties involved.Donor-conceived individuals and their families require mental health support and specialized counseling services to navigate the complexities and emotions associated with their unique situations.Advocacy efforts and legal action are necessary to bring about change and protect the rights and well-being of donor-conceived individuals and their families.Documentaries and media coverage play a crucial role in raising awareness and sparking conversations about the challenges and ethical considerations surrounding sperm donation.   During the episode we also mentioned H.R.451 - Protecting Families from Fertility Fraud Act of 2023 in the US. At the end of the show Laura recommended Donor Conceived Australia, an organization who has been working hard on legislation about importing donors which you can learn more about here.    You can learn more on Eve Wiley’s website here, particularly her pages about passed legislation and pending legislation.    Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer 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 delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are joined by Dr. Kari Mattison, Dr. Luis Miguel Oliveira, and Ana Rita.    Kari Mattison, PhD is a research scientist at the University of Minnesota - Twin Cities. She earned her PhD in Genetics and Molecular Biology from Emory University where her dissertation work was on functional evaluation of novel variants identified in early-onset epilepsy. Kari enjoys science communication having earned an ARCS scholar award while in grad school and working as Editor-in-Chief for the Journal of Emerging Investigators, a journal aimed at helping middle and high-school aged students learn the ins and outs of scientific publishing.   Luis Miguel Oliveira, PhD, is Founder and Executive Director of the v-ATPase Alliance, a non-profit dedicated to finding a cure for rare disorders caused by v-ATPase genetic mutations. He is also a Senior Associate Director of Research Programs at The Michael J. Fox Foundation, leading several research initiatives in translational research and biomarker development for Parkinson's disease.    Ana Rita faced the challenge of her firstborn being diagnosed with this ultra-rare genetic disease in the ATP6V0c gene, prompting her to utilize her expertise in economics, branding, communication and her entrepreneur spirit to make a difference. Despite being told there was no answer or treatment for her son, she began a mission to bring affected families together, learn from them, also questioning experts, doctors and researchers and surrounding herself with a team eager for change, committed to push boundaries and reshaping the future of all v-ATPase affected children and families. She is now a fierce Rare Disease Advocate utilizing mainly social media @anaritararemom.    Episode Topics: Overview of Dr. Mattison’s research on ATP6V0C and its connection to epilepsy.Dr. Mattison’s journey to studying the V-ATPase complex and its role in neurological disorders.Initial findings linking ATP6V0C to epilepsy.The impact of ATP6V0C variants on the function of the V-ATPase and genotype-phenotype correlations.How Dr. Oliveira discovered Dr. Mattison’s paper and their subsequent collaboration.Daniel’s symptoms and the diagnostic odyssey leading to the identification of the pathogenic variant in ATP6V0C.The inception of the v-ATPase Alliance, its mission, and goals.Resources and support offered by the v-ATPase Alliance to patients and their families.The importance of a patient-centric research agenda in the v-ATPase Alliance.Contributions of patients and families to research efforts, particularly through the Data Collection Program.Collaboration between researchers and patient advocacy groups like the v-ATPase Alliance.Future goals and initiatives planned for the v-ATPase Alliance.The evolution of the field of genetics, especially concerning neurological disorders.Advice for new patient advocates in the rare disease community.   You can read Dr. Mattison’s paper that we refer to throughout the interview here. Be sure to check out the v-ATPase Alliance including on Facebook, Instagram, LinkedIn, and X. If you are a scientist working on v-ATPases please reach out!    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 290 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.

Did you know genetic counselors can work for medical insurance companies?    Stephanie Gandomi was one of the first! She is a licensed and board-certified genetic counselor with over 20 years of experience in medical genomics including patient care, research, industry, insurance, education, and more. Currently, she serves as the Program Director of the Master of Science in Genetic Counseling at Southern California University of Health Sciences. Her previous roles in insurance include being the first genetic counselor at Blue Shield of California and the Director of Genetics at UnitedHealthcare. In this conversation, we'll explore how genetic counselors can have a huge impact working for medical insurance companies.   Also shout out to Rebecca C for recommending this topic as Stephanie the perfect guest! She saw Stephanie present on a GC Prep webinar. GC Prep does fantastic work helping students with the genetic counseling graduate program application process. GC Prep is a past sponsor and you can check out appearances by their team members in Episodes #193, #194 and others.    Stephanie Gandomi is a board certified, licensed genetic counselor. She earned her Master of Science in genetic counseling at Brandeis University in 2006 and her MBA from Boise State University in 2019. She started her clinical career at Lucile Packard Children's Hospital at Stanford, and has been in the molecular genetics space now for over 20 years. In 2016, Stephanie became the first genetic counselor in the Blue Cross Blue Shield System of payers as the Principal Program Manager for precision medicine at Blue Shield of California. In 2016, Stephanie became the Director of Genetics at UnitedHealthcare supporting prior authorization and medical policy creation for genetics, and has served as the Director of Market Access at both Ambry Genetics and GeneDx. She is currently the Program Director for the new Master of Science in Genetic Counseling Program at Southern California University of Health Sciences. Stephanie is an AAPC Certified Professional CPT Coder and an AAPC Certified Professional Compliance Officer. She is currently pursuing her Juris Doctor degree with an emphasis in healthcare law and regulatory compliance. On This Episode We Discuss:   Transition to the Insurance Industry Motivation behind moving from clinical genetic counseling to the medical insurance sector.The unique perspective and skills that genetic counselors bring to insurance companies.   Role of Genetic Counselors in Insurance Importance of genetic counselors in developing and implementing medical policies within insurance firms.Strategies for effectively educating insurance companies about the value and necessity of genetic testing.   Achievements and Challenges at Blue Cross Significant changes and innovations implemented at Blue Cross that led to cost savings and improved patient outcomes.Major challenges faced when advocating for genome sequencing coverage by insurance companies.   Balancing Cost and Access Strategies for balancing cost containment with ensuring patient access to essential genetic testing and services.Addressing common misconceptions insurance companies have about genetic testing and how these were tackled.   Future of Genetic Counselors in Insurance The evolving role of genetic counselors in the insurance industry over the next decade.Key skills and knowledge areas for genetic counselors interested in transitioning to the insurance sector.   Building Relationships with Payors Approaching the building of relationships and trust with major payors during industry tenure.Advice for genetic counselors on successfully advocating for patients in navigating insurance coverage for genetic tests.   Evolution of Counselor-Insurance Relationships Future relationship dynamics between genetic counselors and insurance companies aimed at better serving patients.Hopes for the future of genetic counseling and insurance coverage for genetic testing, and ways professionals can contribute to these goals.   Advice for Genetic Counselors and Students Guidance for genetic counselors interested in transitioning to roles within the insurance industry.Advice for prospective genetic counseling students applying to programs, highlighting the importance of the Boise GC program and the upcoming program at Southern California University of Health Science.   If you are a prospective genetic counseling student, the application for the SCU MSGC program opened this week here.    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 290 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 are exploring Ambry Genetics' groundbreaking “Patient for Life” proactive exome reanalysis program. This unique initiative offers lifetime support to patients with rare and undiagnosed conditions, continuously updating their exome testing findings as new scientific discoveries are made.   Joining us are two distinguished experts from Ambry Genetics who will shed light on this innovative program and its impact on patient care. Dr. Elizabeth Chao is a board-certified geneticist and the Chief Medical Officer at Ambry Genetics and alongside her is Kelly Hagman, the Vice President of Medical Affairs and a seasoned Genetic Counselor.   On This Episode We Discuss: Ambry Genetics' Patient for Life program offers lifetime support to patients with rare and undiagnosed conditions, continuously updating exome testing findings to improve patient care.The program addresses disparities in genetic testing by reducing the impact of underrepresentation of non-European ancestries in variant classification and lowering the dependency on provider-initiated requests Provider-initiated reanalysis and the potential impact on therapeutics are important considerations in the context of genetic testing and patient care.   Resources about Patient for Life: Webpage White paper Interview with a GC customer who has had patients impacted by the program (blog)   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 295 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 special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey.    Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief of Division of Computational Genetics at the Albert Einstein College of Medicine and the Children's Hospital at Montefiore in the Bronx.. He is also co-directing the new NORD Center of Excellence, the NY Center for Rare Diseases, with Dr. Melissa Wasserstein. Episode Highlights: Introductions: Overview of Dr. Greally’s professional background and the new initiatives he's leading, including the NY Center for Rare Diseases.The connection through guest host Kristina Inman’s graduate thesis work and the relevance of genetic counseling in their lives.   Professional Work: An in-depth look at the NY Center for Rare Diseases and its mission.Discussing the critical issues of genomic privacy and health equity in genomics.Exploring Genomic Tech/GenomeDiver and their impact on the field.   Personal Journey: Dr. Greally shares his research background and the inspiration behind his upcoming book on epigenetics.His thoughts on the portrayal of epigenetics in the media and the focus on functional non-coding variants (fNCVs) in his current research.Explanation of terms like “regulatory landscape” and “molecular quantitative trait loci (molQTL)” at an accessible level.Exciting collaboration with Google Research and Deep Mind to develop a machine learning model for identifying fNCVs. Dr. Greally's personal experience with his diagnosis, the emotions involved, and how it influenced his professional perspective.   Patient Care: The impact of Dr. Greally’s personal experience on his approach to patient care and his connection to families with congenital conditions.The implications of receiving a variant of uncertain significance (VUS) in genetic testing and its potential impact on patients.   Reflection & Advice: Dr. Greally reflects on his journey, lessons on resilience, the importance of genetic testing, and the potential benefits of universal genetic screening.Advice for patients dealing with similar conditions and for young professionals entering the field of genetics and genetic counseling.   Future Work: Insights into Dr. Greally’s future plans, upcoming projects, and areas of excitement in his work.Resources for listeners who want to learn more about Dr. Greally’s research and initiatives.   Check out Dr. Greally’s lab and follow Dr. Greally on LinkedIn. You can also check out our guest host Kristina Inman on LinkedIn.    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 290 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 explore the genetic counseling board exam, its development, delivery, and resources available to test takers by the American Board of Genetic Counseling (ABGC) directly! There is so much to cover so this is a DOUBLE EPISODE of DNA Today.    Joining us in this episode is ABGC’s current President, Angela Trepanier, and the Executive Director, Heather Rich. They provide an insider look at the exam and discuss the process of exam development, addressing issues, and adapting the exam to be more inclusive and equitable. The conversation covers various aspects of the genetic counseling board exam, including the content, passing point determination, exam administration, and recent changes. It also delves into the cost of the exam, financial assistance, and the impact on genetic counselors. The two ABGC speakers provide insights and transparency to ease anxiety for test takers and offer valuable information for program directors and supervisors.   Takeaways Insight into the development and delivery of the genetic counseling board exam.Understanding the multi-pronged process of exam development and the involvement of diverse experts.Adaptation of the exam to address biases and promote inclusivity and equity.The importance of transparency and communication in addressing exam issues and implementing changes. The passing point for the genetic counseling board exam is determined through a rigorous process involving a passing point committee and psychometricians.The cost of the exam is attributed to various factors, including test vendor collaboration, committee meetings, and innovation costs.Financial assistance and reduced exam fees aim to increase equity and access for individuals taking the exam, with a focus on supporting those facing financial hardship.The exam administration process has evolved to provide immediate scoring and diagnostic score reports, enhancing the candidate experience.Insights from the conversation provide valuable information for test takers, program directors, and supervisors, offering transparency and easing anxiety around the exam process.   The National Society of Genetic Counselors' (NSGC) Professional Status Survey (PSS) of 2024 reported that 25% of respondents (full time genetic counselors) had their board exam fees covered by their employer. Nineteen percent had their employer cover their board exam review course.    Most genetic counselors who sat for exams in 2023 did not receive compensation from their employer upon board certification (83%). Thirteen percent of genetic counselors received a raise in salary upon board certification in 2023.   Want to learn more about boards? We have a couple other episodes to listen to, some of which we mentioned in the interview.    #126 Adam Buchanan on ABGC Boards Exam - Answering listener submitted questions about the board exam is Adam Buchanan, who was the ABGC president at the time. #138 Genetic Counseling Boards Advice - In this episode our host Kira Dineen (who practices in prenatal) is joined by a cancer and a pediatric genetic counselor for insight from the three major specialties to provide insight    #235 Genetic Counseling History: ABGC Formation - Seasoned genetic counselors Ann Walker and Ed Kloza reminisce and share about the formation of the American Board of Genetic Counseling (ABGC).    During the episode we also mentioned some other resources….   GC Genius Flashcards - 150 Flashcards: Top 100 Conditions to Know + Expansion Pack (150 conditions)   ABGC Official Content Outline    ABGC Frequently Asked Questions (FAQs)   ABGC Practice Exam   ABGC Certified Genetic Counselor (CGC®) Candidate Guide   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 295 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 explore the emerging field of newborn screening for cancer predisposition with Dr. Lisa Diller from Dana-Farber/Boston Children’s. What’s special about this podcast episode? Two Sarah Lawrence Genetic Counseling students took over! Great job to Jessica Fernandes and Yalda Safaei on this interview. Dr. Lisa Diller is the Vice Chair of the Department of Pediatric Oncology and the Director of the Perini Family Survivors Center and the David B. Perini Jr. Quality of Life Clinic at the Dana-Farber Cancer Institute. Additionally, she is a co-director of the Pediatric Cancer Genetic Risk Program at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dr. Diller's research focuses on the late effects of treatment for childhood cancer and genetic cancer predisposition syndromes in childhood.   Newborn screening (NBS) is a vital public health service that detects genetic, metabolic, and congenital disorders early, allowing for timely intervention and better health outcomes. While traditional screening focuses on metabolic and genetic disorders, screening for cancer predisposition is still in its early stages, with ongoing research and pilot programs evaluating its feasibility and benefits. NBS is currently done using a biochemical blood test, but Dr. Diller explains the advantages of using a gene-first approach, which has been documented in a study published in the Journal of the American Medical Association which recruited roughly 30,000 Chinese newborns. The study’s findings state that using genetic testing as a first-tier approach improved detection capability as opposed to traditional methods (Chen et al. 2023).   Gene-first sequencing, also known as "phenotype-first" or "candidate-gene" sequencing, is an approach in genetic testing where specific genes that are suspected to be associated with a particular phenotype (observable traits or symptoms) are sequenced first. This method contrasts with more comprehensive sequencing techniques such as whole-exome sequencing (WES) or whole-genome sequencing (WGS), where all protein-coding regions or the entire genome, respectively, are sequenced.   Nevertheless, implementing widespread newborn screening for cancer predisposition faces several challenges. Technological limitations need addressing to ensure accurate and reliable results, healthcare infrastructure must adapt, and the costs associated with additional genetic tests and follow-up care can be high. Additionally, the psychological impact on families knowing their child has a predisposition to cancer and what it might mean for them must be considered. Ethical considerations are also crucial in this context. Informed consent, privacy, classification of variants, and the potential for discrimination based on genetic information are key concerns. Dr Diller highlights potential stigma that comes with the “label” of being positive and also how many conditions lack complete penetrance; meaning it is difficult to say when or even if these children will develop cancer.    The importance of early detection is underscored by hereditary conditions like retinoblastoma and Li-Fraumeni syndrome (LFS). Retinoblastoma, a rare eye cancer, can be life-threatening if not detected early, but early screening and intervention can significantly improve outcomes. While screening for adult onset cancers like BRCA1/2 in newborns is not recommended, LFS is also associated with various childhood cancers, thus detecting such predispositions early allows for surveillance and preventive measures, potentially saving lives. Following a positive result, parents have the ability to make informed decisions for their children’s health management, whether that requires immediate intervention/therapies, or close monitoring.   Dr. Diller emphasizes the importance of the gene-first approach and its role in the trajectory of newborn screening. She highlights the potential of early detection and intervention to significantly reduce cancer morbidity and mortality, and she is encouraged by continued research and support for these promising initiatives.    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 290 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 explore the rare genetic disorder Smith-Magenis Syndrome (SMS) with our guest, Scotti Taylor. Scotti shares her personal journey and insights about her oldest daughter, Drew, who was diagnosed with SMS. Join us as we learn about the challenges and triumphs faced by individuals with SMS and their families.   Scotti Taylor (she/her) is a fine artist based in Oceanside, California, and a mother to four teenagers and young adults. She divides her time between painting and advocacy work. Her art reflects her experiences as a trauma and substance abuse survivor, her roles as a wife and mother, and her responsibilities as a devoted caregiver to her adult daughter with disabilities. Taylor’s work also explores the challenges of navigating physical and social barriers in contemporary society, aiming to evoke empathy and compassion. Her primary artistic themes focus on raising awareness for perimenopausal women and illuminating the rare genetic disorder Smith-Magenis Syndrome, with which her oldest daughter was diagnosed at the age of 20.   Discussion Topics: Introduction to Drew: Scotti shares about her daughter Drew, her personality, and what brings her joy. Understanding Smith-Magenis Syndrome (SMS): Explanation of what SMS is and how it affects individuals.Daily challenges faced by Drew and her family due to SMS. Diagnostic Journey: When Drew started showing symptoms and the beginning of their diagnostic odyssey.Early involvement of healthcare providers in Drew’s diagnosis. Physical Characteristics and Diagnosis: Discussion on the subtle facial features of SMS and their presence in Drew.The pivotal moment involving a fellow parent in a Special Needs Moms online group.Scotti’s initial reaction to learning about SMS through online research. Genetic Testing: The process and challenges of getting genetic testing for Drew.The insurance approval process for the genetic test.Explanation of the inheritance patterns of SMS and if Scotti and Drew’s father were tested. Symptoms and Precautions: Managing decreased pain sensitivity and self-injurious behaviors in people with SMS.Extra precautions parents and caregivers need to take to keep those with SMS safe.Impact of sleep disturbances on Drew and the family. Other hallmark features of SMS and their effects on Drew. Family Dynamics: Impact of raising a child with SMS on family dynamics and relationships with Drew’s siblings. Awareness and Advocacy: Importance of spreading awareness about Smith-Magenis Syndrome.Scotti’s art and its role in her advocacy and personal coping. Advice and Resources: Advice for other parents or caregivers of individuals with SMS or similar conditions.Valuable resources and support networks for families affected by SMS. Closing Thoughts: Scotti’s hopes for others to gain an understanding and appreciation of SMS through her experiences and advocacy. Check out Scotti’s art here and her Instagram (@heyscottitaylor). Be sure to also check out PRISMS that Scotti recommends during the interview.  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 290 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.

The real power of gene editing is being able to choose exactly where to edit a genetic disorder, as easily as correcting a tiny typo in a text.   With its 25 years of expertise, Cellectis was the first company to translate gene editing tools into potentially life-saving therapies. They invented the allogeneic approach (which is the transfer of cells from one individual to another). Cellectis’ technology, TALEN®, can make very precise edits, with limited to no off-target effects and we are learning more about it in this episode.   To do so, we are joined by Dr. Julien Valton, Vice President Gene Therapy at Cellectis.   On This Episode We Discuss: Overview of Cellectis: Celebrating 25 years of innovation in gene editing.Overview of Cellectis’ journey and contributions to the field. Understanding TALEN Technology: Explanation of what TALEN stands for and how it works.Comparison of TALEN with other gene editing technologies like CRISPR.Advantages and disadvantages of using TALEN over CRISPR.TALEN's intellectual property status and whether other companies are working on this technology. Chimeric Antigen Receptor (CAR) T-cells: Introduction to CAR T-cells and their role in gene editing with TALEN technology. Recent Research and Innovations: Discussion on the new paper co-authored by Dr. Valton on using TALEN technology to edit hematopoietic stem and progenitor cells.Explanation of the “promoterless intronic gene editing approach” and how it differs from usual methods.Reasons for choosing Mucopolysaccharidosis MPS type I for the study.Insights into the decision to trigger gene expression only after cells have turned into the myeloid lineage.Remarkable findings of “corrected cells” in the brains of mice and the implications for treating metabolic and neurological disorders. Implications and Future Directions: Potential therapeutic applications in the treatment of metabolic and neurological diseases.Discussion on the recent partnership agreement with AstraZeneca.Specific diseases targeted with TALEN in the near future and the goals of the collaboration with AstraZeneca. Conclusion: Final thoughts from Dr. Valton on the future of gene editing and Cellectis’ role in advancing this field. 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 290 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 are joined by Dan Dry Dock Shockley, a retired Navy veteran and advocate living with a hereditary colon cancer syndrome. Dan’s journey from military service to becoming a passionate advocate for hereditary cancer awareness is both inspiring and educational. Tune in as we delve into his personal experiences, the importance of early detection, and his ongoing mission to educate others.   Discussion Topics   Dan's Diagnosis and Perspective: Diagnosed at age 51 with no symptoms and no family history of colon cancer. He shares how this diagnosis shaped his perspective on health and life.Genetic Testing Journey: Details about who ordered Dan's genetic testing and the education and counseling he received and the information about his specific genetic variant.Understanding Attenuated FAP: Explanation of attenuated familial adenomatous polyposis (AFAP) and its impact on Dan’s life.Advocacy and Inspiration:What inspired Dan to become an advocate for hereditary colon cancer syndrome and pancreatic cancer awareness.Importance of Early Detection: The crucial role of colonoscopies in early cancer detection and treatment, especially in the context of hereditary cancer syndromes like AFAP.Meeting Dr. Henry Lynch: Dan’s experience meeting Dr. Henry Lynch, a pioneer in cancer genetics and the significance of Dr. Lynch's groundbreaking work.Continuing Dr. Lynch's Legacy: Dan's motivation to continue Dr. Henry T. Lynch's legacy of educating medical students and professionals about AFAP. Navigating with a Positive Attitude: How Dan’s mantra, "Always Forge Ahead with a Purpose," and its significance in guiding him.Myth-busting Hereditary Cancer Syndromes: Common misconceptions about hereditary cancer syndromes and how Dan addresses them.Advice for Others: Dan’s advice for individuals diagnosed with hereditary cancer syndromes or undergoing cancer treatment.   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 290 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.