DNA Today: A Genetics Podcast

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 research
The most critical moments of the Human Genome Project and how it reshaped our understanding of genetics
Reflections on his tenure as NIH Director, serving under three U.S. presidents
His response to the COVID-19 pandemic and lessons learned for future public health crises
The role of trust between scientists and the public, and how we can combat misinformation
His thoughts on the intersection of faith and science, and how his beliefs have shaped his career
A 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 [email protected].

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 therapy
The obstacles that prevented Dima from qualifying for gene therapy
Wunmi’s stem cell transplant experience, including the procedure, recovery process, and symptom changes post-transplant
The use of the term “cure” in the context of gene therapy for Sickle Cell Disease—how it may create misconceptions
The importance of managing expectations around gene therapy and its long-term effects
How mental health has played a significant role in their SCD journeys, including the emotional aspects of undergoing transformative therapy
The crucial role of support systems—family, friends, and healthcare providers—during and after treatment
Wunmi’s post-stem cell transplant follow-up care and the importance of continuity in care after gene therapy
The harsh reality of medical racism faced by those living with Sickle Cell Disease, and how Wunmi and Dima navigate and advocate within the healthcare system
Their 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 [email protected]. 
 

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-seller
Official selection of OPRAH’S BOOK CLUB
A NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the Year
PEOPLE ’s #1 Best Book of the Year
Named 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 Amazon
Finalist, PEN/John Kenneth Galbraith Award for Nonfiction
Featured 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 Wang
Spotlight Documentary Directed by Tom McCarthy
National 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 [email protected]. 

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 [email protected]. 

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 [email protected]. 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 [email protected]. 

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 [email protected]. 

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 conceived
Eve’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 [email protected]. 

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 [email protected].

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 [email protected].