『DNA Today: A Genetics Podcast』のカバーアート

DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

著者： Kira Dineen Gene Pool Media
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Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For 14 years, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.

***Best Science and Medicine Podcast Award Winner (2020, 2021 and 2022)***

Learn more (and stream all 400+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.


This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows.

DNA Today, LLC 2012-2026 生物科学 科学
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  • #410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

    #410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?
    2026/09/04
    This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean. Gypsy Rose Blanchard’s medical history has been scrutinized for years. Throughout her childhood, her mother, Dee Dee Blanchard, presented her as having numerous serious medical conditions, resulting in medications, procedures, mobility aids, and countless medical appointments. In 2015, Dee Dee was murdered by Gypsy’s then-boyfriend in a crime Gypsy helped plan. The case has since inspired documentaries, television series, podcasts, and an enormous amount of online speculation. But one part of Gypsy’s medical history has received relatively little attention: a chromosomal microdeletion identified through genetic testing. In this special episode drop, we are sharing the fifth installment of “The Gypsy Rose Obsession,” an investigative series from the PRETEND podcast hosted by Javier Leiva. The first four episodes explore the online community that continues to investigate, debate, and develop competing theories about nearly every aspect of Gypsy’s life. We recommend listening to those episodes first for the full context behind the people, records, and claims discussed in this installment. Episode five turns its attention to Gypsy’s reported 1q21.1 microdeletion. DNA Today host and certified genetic counselor Kira Dineen joins Javier as a genetics expert to examine the available records and explain the complexities of interpreting this finding. Kira breaks down chromosomes using a genomic-library analogy, explains how a chromosomal “address” such as 1q21.1 is read, and puts the reported deletion size into perspective. She also compares a traditional karyotype with a chromosomal microarray and explains how a deletion can be too small to detect through one form of testing but identifiable through another. What can the microdeletion tell us about Gypsy’s health? Why might her earlier clinical notes and a later laboratory report describe the finding differently? Could the deletion explain claims involving paralysis, leukemia, or the need for a feeding tube? Most importantly, how do we distinguish a possible genetic association from evidence that a particular finding caused someone’s medical, psychiatric, or behavioral features? This episode discusses medical child abuse, violence, and murder. Please take care while listening. Episode Discussion Topics What genetic counselors do and how they help patients understand genetic testingChromosomes, genes, and microdeletions explained through a genomic-library analogyHow to interpret the chromosomal address “1q21.1”What it means to have a piece of chromosome 1 missingPutting the size of the deletion into perspectiveWhy the size of a genetic change does not always predict its medical impactThe wide spectrum associated with 1q21.1 microdeletions, ranging from no apparent features to developmental and congenital differencesHow two people with the same or similar deletion can be affected very differentlyWhy identifying the deletion does not mean someone will develop every associated conditionPossible developmental, neurological, physical, and behavioral features reported with 1q21.1 microdeletionsThe difference between a genetic risk factor and a diagnosis or predictionWhether paralysis, leukemia, or feeding-tube use are associated with this deletionWhy a genetic finding should not automatically be used to explain every aspect of someone’s medical or behavioral historyThe limitations of interpreting genetic information without a complete medical evaluation and family history The information presented in this episode is intended for education and discussion and should not be considered individualized medical advice. Genetic test results should be interpreted by a qualified healthcare professional in the context of the individual’s complete medical and family history. Resources & Links Listen to PRETEND on Apple PodcastsListen to PRETEND on SpotifyLearn more at the PRETEND podcast website1q21.1 Microdeletion—MedlinePlus Genetics1q21.1 Recurrent Deletion—GeneReviews1q21.1 Microdeletions—Unique, Understanding Rare Chromosome and Gene Disorders Relevant DNA Today Podcast Episodes True Crime and Forensic Genetics #402 How Genetic Genealogy Caught the Golden State Killer — Retired cold-case investigator Paul Holes explains how investigative genetic genealogy identified Joseph DeAngelo and discusses DNA evidence in the Golden State Killer, Zodiac Killer, and other major cases.#326 How DNA Solves Crimes: The Forensic Science Behind True Crime — DNA-analysis pioneer Dr. Henry Erlich explores PCR, forensic DNA databases, exonerations, the O.J. Simpson case, and the scientific and ethical complexities of DNA evidence.#131 Libby Copeland on Law Enforcement Use of Genetic Databases — Journalist and author Libby Copeland examines how law enforcement uses ...
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    44 分
  • #409 How DNA Testing Exposed the Dark History of American Adoption

    #409 How DNA Testing Exposed the Dark History of American Adoption
    2026/08/28
    What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades? This week, we are sharing an episode of DNA Clarity and Support, the newest podcast to join the Gene Pool Media network. Host and genetic counselor Brianne Kirkpatrick Williams speaks with New York Times bestselling author and journalist Gabrielle Glaser about her book, American Baby: A Mother, a Child, and the Shadow History of Adoption. American Baby follows Margaret Erle Katz, who became pregnant as a teenager in 1961, and the son she was pressured to relinquish for adoption. That child, later named David Rosenberg, grew up without access to his biological family or family medical history. Decades later, while experiencing serious health problems, David used direct-to-consumer DNA testing to identify his birth family and discovered that the story he had believed about his adoption was not true. Through David and Margaret’s experiences, Gabrielle exposes the coercion, secrecy, and stigma that shaped the postwar adoption industry, and explores why access to original birth records, genetic relatives, and family health history remains so important. On This Episode, We Discuss: How Gabrielle met David while reporting on his kidney transplantHow DNA testing connected David with his biological familyWhat David discovered about his birth parents’ efforts to keep himHow sealed adoption records restrict access to identity and family medical historyStigma, coercion, and secrecy in postwar American adoptionUnethical research conducted on infants awaiting adoptionThe emotional complexity of unexpected biological connections and family reunionsPrivacy concerns surrounding commercial DNA databasesSupport resources for adoptees and others navigating DNA discoveriesMargaret’s journey from decades of secrecy to adoptee-rights advocacy About Gabrielle Glaser Gabrielle Glaser is a New York Times bestselling author and journalist whose work on mental health, medicine, addiction, and culture has appeared in The New York Times Magazine, The New York Times, and many other publications. Her fourth book, American Baby: A Mother, a Child, and the Shadow History of Adoption, examines the history of adoption in post–World War II America through the story of one family separated by the country’s secretive and coercive adoption system. Learn more about Gabrielle and her work on her website. About Brianne Kirkpatrick Williams Brianne Kirkpatrick Williams is a licensed and certified genetic counselor, genealogist, author, and the founder of Watershed DNA. She provides support and guidance for people navigating DNA testing, family searches, adoption, donor conception, misattributed parentage, and unexpected biological relationships. Brianne is also the co-author, with Shannon Combs-Bennett, of The DNA Guide for Adoptees. About DNA Clarity and Support DNA Clarity and Support explores the personal and familial impacts of DNA testing. Brianne speaks with authors, advocates, and leaders about family searches, unexpected discoveries, identity, medical history, and the resources available to people navigating the rapidly changing world of consumer DNA testing. DNA Clarity and Support is produced by Watershed DNA and is part of the Gene Pool Media podcast network. Subscribe wherever you listen to podcasts. Resources Gabrielle GlaserAmerican Baby by Gabrielle Glaser The DNA Guide for Adoptees by Brianne Kirkpatrick Williams and Shannon Combs-BennettWatershed DNAAdoptee Rights Law CenterLiberty Lost PodcastDNA Clarity and Support PodcastCurrent map of adoptee access to original birth certificates Editor’s note: This conversation was originally recorded in 2022. Laws governing adoptee access to original birth certificates have continued to change since then. As of July 2026, according to the Adoptee Rights Law Center, adult adopted people in seventeen states currently have an unrestricted right to obtain copies of their own pre-adoption original birth records without discriminatory restrictions. These maps categorize US states into three primary groups: Unrestricted, Compromised, and Restricted, with definitions and numbers below. A list of states and restrictions is also available, as well as a changelog to the map over time. Relevant DNA Today Episodes #103 Brianne Kirkpatrick on Adoptee Genetic Testing#139 Dani Shapiro on Her Donor-Conceived Discovery#242 Misattributed Paternity with Richard Wenzel#300 Netflix’s The Man With 1,000 Kids: Fertility Fraud Expert Eve Wiley and Advocate Laura#131 Libby Copeland on Law Enforcement Use of Genetic Databases Connect You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video ...
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    43 分
  • #408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

    #408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia
    2026/08/21
    Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later in life. With symptoms spanning multiple body systems and varying across the lifespan, how can clinicians recognize when these seemingly disconnected findings may point to HPP? In the first episode of our three-part series on hypophosphatasia, we are joined by genetic counselor Amy Patterson to explore the clinical spectrum and diagnosis of HPP. Amy explains what happens biologically in HPP, why traditional age-based classifications do not always capture its variability, and how the condition may present from the prenatal period through adulthood. We also discuss the importance of persistently low alkaline phosphatase (ALP), including why results must be interpreted using age- and sex-appropriate reference ranges. Amy reviews the additional laboratory findings, medical and dental histories, imaging, physical examination, and molecular testing that may contribute to a diagnosis. She also highlights common misdiagnoses and the clinical clues that should prompt healthcare providers to consider HPP. Episode Discussion Topics What hypophosphatasia is and how impaired mineralization affects the bodyThe perinatal, infantile, childhood, adult, and odonto forms of HPPPrenatal and infantile presentations of severe HPPClinical and dental signs in childrenFractures, chronic pain, fatigue, weakness, and dental concerns in adultsHow manifestations may change throughout a person’s lifetimeVariability among relatives with the same familial ALPL variantsCommon diagnostic delays and misdiagnosesDistinguishing HPP from other causes of rickets and skeletal abnormalitiesDifferentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgiaThe importance of persistently low ALP and appropriate reference rangesAlternative explanations for a low ALP resultThe HPP International Working GroupThe roles of laboratory testing, radiographs, dental records, and medical historyWhen molecular testing of the ALPL gene may be appropriateWhether HPP can be diagnosed without an identified pathogenic or likely pathogenic ALPL variant About the Guest Amy Patterson, MS, CGC, is a licensed, board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She works with pediatric and adult patients in the general genetics clinic and the Greenberg Center for Skeletal Dysplasias, including individuals and families affected by hypophosphatasia. About the Series This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management. This series is sponsored by Alexion. The views expressed by the host and guests are their own. Resources Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP.Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056.Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438.Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10.Brandi ML, Khan AA, Rush ET, et al. The challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449.Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals. Relevant DNA Today Episodes #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition.#301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy.#348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how ...
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    38 分
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