Episodes

  • #308 Congenital Myasthenic Syndromes with Dr. Hanns Lochmüller

    #308 Congenital Myasthenic Syndromes with Dr. Hanns Lochmüller
    Sep 27 2024

    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.

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    20 mins
  • #307 NSGC 2024 Recap

    #307 NSGC 2024 Recap
    Sep 22 2024
    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.
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    38 mins
  • #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

    #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
    Sep 13 2024
    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.
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    37 mins
  • #305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”

    #305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”
    Sep 6 2024
    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 ...
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    42 mins
  • #304 HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch

    #304 HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch
    Aug 30 2024
    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, ...
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    1 hr and 8 mins
  • #303 RNA Analysis with Ambry Genetics

    #303 RNA Analysis with Ambry Genetics
    Aug 23 2024
    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.
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    35 mins
  • #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care

    #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care
    Aug 17 2024
    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.
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    45 mins
  • #301 Dwarfism with Colleen Gioffreda

    #301 Dwarfism with Colleen Gioffreda
    Aug 9 2024
    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.
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    59 mins