Episodios

  • #344 Trans and Gender Diverse Patients' Experiences with Reproductive Healthcare

    #344 Trans and Gender Diverse Patients' Experiences with Reproductive Healthcare
    Jun 6 2025
    We wanted to let you know of a live podcast episode of the PhenoTips Speakers Series happening soon on June 18th, 2025 at 12pmEST. We do an annual pride installment, this year we are exploring Gender Affirming Cancer Genetic Counseling. Sign up here so you can tune in and ask your questions live to host Kira Dineen and the impressive panel we have lined up. Have you heard? I launched a brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharmaBeyond The Thesis with Papa PhDDNA DialoguesIt Happened To MeAll Access DNA#ThroughTheGenesDemystifying GeneticsPhenoTips Speaker Series Two brand new shows debuting this year If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network. This week we are sharing a segment from a recent episode (#15) of DNA Dialogues, which is the official podcast of the Journal of Genetic Counseling. Our host Kira Dineen, was lucky enough to be on the team that launched the show last year. Here’s what is unique about this show, each episode of this podcast two papers from the journal are highlighted through interviews with the authors themselves. We picked this segment to share in honor of Pride month as it explores the paper “Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study”. The two authors of the study join for this interview: Jaime Schechner and Darius Haghighat. Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children’s Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel’s Maternal Fetal Medicine Center. Darius Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity. In this segment Kate, Darius, and Jaime discuss: - The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals. - Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge. - Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters. - Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language. - Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey. - The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices. 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. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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 (...
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    23 m
  • #343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure

    #343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure
    May 30 2025
    What would you do if your child was diagnosed with a terminal genetic condition, and the only hope for survival required raising $2.2 million? In this deeply moving episode of DNA Today, we’re joined by Joe Jackson, a rare disease advocate and father of 7-year-old William, who lives with Duchenne Muscular Dystrophy (DMD), a rare, progressive genetic disorder that leads to muscle degeneration and shortened life expectancy. But William’s story stands apart. Due to a rare duplication mutation in the DMD gene (exons 12–20), existing treatments aren’t an option. So Joe and his wife Kati are doing something extraordinary: working with Cure Rare Disease to develop a personalized CRISPR gene-editing therapy that could become the first of its kind in the United States; and possibly save William’s life. In this conversation, Joe opens up about the emotional toll of a devastating diagnosis, the scientific promise of genome editing, and the urgent, grassroots efforts it takes to fund a first-in-human therapy when time is running out. Episode Topics Include: What it’s like to receive a diagnosis of Duchenne Muscular DystrophyHow William’s unique mutation excludes him from all existing treatmentsThe role of Cure Rare Disease in accelerating gene therapy developmentHow CRISPR could eliminate William’s genetic duplicationThe emotional moment Joe saw rodent models with William’s mutation fully recover after CRISPR Why personalized gene therapies like this one can cost $2.2 million+What comes next once the fundraising goal is metThe ripple effect: how William’s treatment could pave the way for other forms of DMDHow Joe raised awareness by rowing 157 miles of the Rogue River in just 24 hoursWhat the recent breakthroughs in personalized CRISPR therapies mean for the future of rare disease Resources: At the beginning of the episode, the Host Kira Dineen couldn’t remember what percentage of cases of DMD are random/de novo, it’s 33% according to this study.Two DNA Today episodes were referenced:#156 Rich Horgan on Duchenne Muscular Dystrophy (Cure Rare Diseases Founder)#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency Towards the end of the interview Joe mentioned a brand new 8-minute video sharing about the “We Row For William” adventure, watch it here. About the Guest: Joe Jackson is a father, rare disease advocate, and fundraiser whose youngest son, William, is battling Duchenne Muscular Dystrophy. With support from Cure Rare Disease, Joe and his wife are working to develop a custom CRISPR-based gene editing therapy tailored to William’s exact mutation. His story was recently featured on CNN’s website and Instagram here. Joe continues to inspire families around the world with his passion, creativity, and determination to save his son’s life. How You Can Help: To support William’s custom gene therapy and learn more about Duchenne visit WeWillForWilliam.org. Every donation brings William one step closer to a groundbreaking treatment, and helps advance the future of genetic medicine. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    40 m
  • #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency

    #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency
    May 23 2025
    What would you do if you won $10 million? For Jeff and Jennifer Allen, the answer was simple: fund research to find a cure for their son’s rare genetic condition. In this episode of DNA Today, we’re joined by Jeff and Jen Allen; Jeff is known to over 100 million YouTube viewers as Player 831, the winner of MrBeast’s high-stakes reality series Beast Games—and the recipient of the largest game show prize in history: $10 MILLION. Alongside him is his wife, Jennifer Allen, who has been an equal partner in their advocacy journey every step of the way. But the Allens aren’t spending that money on luxury vacations or dream homes. Their mission is far bigger—and far more urgent. Their youngest son, Lucas, lives with Creatine Transporter Deficiency (CTD), a rare and devastating genetic disorder that impairs brain and muscle function. With fewer than 400 known cases worldwide and no approved treatments, CTD is under-recognized and underfunded. Jeff applied to Beast Games with one goal: raise awareness and secure funding to accelerate research. Against all odds, he won—and now, he and Jen are investing in the future of CTD research and other families like theirs. In this episode, Jeff and Jen share their incredible journey—from the intensity of Beast Games to the emotional impact of Lucas’s diagnosis, and how they’re using their platform and prize money to drive life-changing research. Episode Topics Include: Behind-the-scenes stories from Jeff’s experience on Beast GamesJen’s perspective watching Jeff compete and staying grounded in their family’s missionWhat it was like for their son Jack to visit Jeff during filming and serve as his “coach”Why Jeff turned down offers of $1 million+ to stay in the gameThe emotional moment Jeff dedicated his final win to LucasWhat Creatine Transporter Deficiency (CTD) is and how it affects LucasThe current research status and the massive funding gap for CTDHow the Allens plan to use the $10 million prize to support research and gene therapy developmentHope on the horizon: breaking news of the personalized CRISPR therapy and what this could mean for CTDThe couple’s involvement with the Association for Creatine Deficiencies and broader advocacy workAdvice for newly diagnosed families navigating rare diseases like CTD About the Guests: Jeffrey Randall Allen, known as Player 831, made history as the winner of the inaugural season of Beast Games, the high-stakes reality competition series created by YouTube sensation MrBeast (Jimmy Donaldson). In the show's dramatic finale, Allen secured a record-breaking $10 million prize—the largest in game show history—by correctly selecting the winning briefcase in a tense final game of chance . His advocacy efforts are deeply personal. Allen's youngest son, Lucas, was diagnosed with Creatine Transporter Deficiency (CTD), a rare genetic disorder affecting brain and muscle function. With less than 400 cases diagnosed world wide, CTD has no known treatment, prompting Allen to raise awareness and fund research through his involvement with the Association for Creatine Deficiencies. Allen applied to Beast Games with the primary goal of using the platform to raise awareness for CTD. Despite offers of up to $1 million to leave the competition early, he remained steadfast, ultimately winning the $10 million prize. He plans to use the funds to support clinical trials and research aimed at finding a treatment for CTD, which is estimated to require between $30 million and $40 million to develop. Allen resides in the Bay Area with his wife, Jennifer, and their two sons, Jack and Lucas. Through his historic win on Beast Games, Jeffrey Randall Allen has not only changed his family’s life but also brought global attention to the fight against rare diseases—turning a personal struggle into a powerful mission for change. Resources: Andrew Huberman on Creatine “Single dose creatine improves cognitive performance and induces changes in cerebral high energy phosphates during sleep deprivation.” Article that Jeff references from Scientific Reports. Breaking news of the personalized CRISPR therapy in the New York Times. “A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity”. Landmark 2012 paper in Science about CRISPR that Kira references. FDA Approves First Gene Therapies to Treat Patients with Sickle Cell DiseaseAssociation for Creatine DeficienciesWatch the Beast Games on Amazon Prime Connect: Follow Jeff on TikTok @legacy.831, Instagram @legacy.831, YouTube @legacy831official, and LinkedIn here. Contact the Allen’s public relation agent Natalie Beita at Element 23, her email is natalie (at) element23.co. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple...
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    43 m
  • #341 How One Family Faced Seven ALS Diagnoses and Chose Advocacy

    #341 How One Family Faced Seven ALS Diagnoses and Chose Advocacy
    May 16 2025
    In honor of ALS awareness month, we are joined by Debbie Lower. She is a remarkable advocate, educator, and caregiver whose family has been deeply impacted by ALS. Over the last three decades, Debbie has lost seven family members to ALS and frontotemporal dementia (FTD), many of whom carried the C9orf72 gene mutation. From caregiving for her mother to mentoring other families and advocating for research funding, Debbie has turned unimaginable loss into powerful action. Today we’ll dive into the genetics of ALS, the current landscape of research and drug development, and how Debbie continues to support families navigating the emotional and genetic complexities of this disease. Episode Topics Include: How ALS and FTD unfolded in Debbie’s family over multiple generationsThe impact of receiving a negative genetic test result for C9orf72What the C9orf72 repeat expansion means for familial ALS and FTDOther genes linked to ALS and how genetic testing is evolvingThe emotional and psychological complexities of genetic diagnosesThe difference between familial and sporadic ALSPromising clinical trials and research efforts in genetic ALSHow advocacy and mentorship empower families facing these rare diseasesDebbie’s advice for newly diagnosed families navigating ALS or FTD Resources Mentioned in Episode: I Am ALS Organization The ALL ALS PREVENT Study The ALL ALS ASSESS Study HEALEY ALS Platform TrialEnd The Legacy Organization Team Gleason Foundation (specifically their tech like controlling wheelchairs with eye gaze)I'm Dying To Tell You Podcast Go On, Be Brave Documentary Tofersen drug reversing some people’s symptoms (In 2023 the FDA approved it to treat SOD1-ALS) “Artificial intelligence empowered voice generation for amyotrophic lateral sclerosis patients” Regondi et. al 2025 Nature Paper“Evidence-based consensus guidelines for ALS genetic testing and counseling” Roggenbuck et. al 2023, Annals of Clinical and Translational Neurology Paper“Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD” Benatar et. al. 2025, J Neurol Neurosurg Psychiatry Paper At the end of the episode, host Kira Dineen has a heartfelt thank you to one of her mentors who has ALS, Doug Campbell. He has been and continues to be instrumental in the development of the DNA Today brand and business. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    32 m
  • #340 How Podcasting Shaped A Genetics Career: Dr. Matt Burgess Interviews Kira Dineen

    #340 How Podcasting Shaped A Genetics Career: Dr. Matt Burgess Interviews Kira Dineen
    May 9 2025
    I launched a brand new science podcast network called Gene Pool Media, two weeks ago on DNA Day, April 25th. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including… RealPharmaBeyond The Thesis with Papa PhDDNA DialoguesIt Happened To Me#ThroughTheGenesDemystifying GeneticsPhenoTips Speaker Series All Access DNATwo brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality. Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now! If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. In this episode drop of Demystifying Genetics where I was actually a guest. This podcast is hosted by an Australian genetic counselor Dr. Matt Burgess. Matt interviews me about my journey as a high school starting this genetics podcast from my childhood bedroom to becoming a genetic counselor and now multi-award winning podcast. The conversation explores the nuances of genetic counseling, the impact of technology like CRISPR, and the unexpected connections that shape careers in genetics. Matt was also a guest way back in 2020 on Episode #114 on DNA Today when I was still a grad student. Episode Topics: Kira discusses her personal journey into genetic counseling Emphasises the balance between technical skills and patient care Addresses common misconceptions about the emotional weight of the profession Shares insights into the groundbreaking use of CRISPR technology Highlights the importance of podcasting in enhancing professional growth Explores the unexpected recognition from Kourtney Kardashian’s blog Any inquiries for Demystifying Genetics podcast can be through Matt’s LinkedIn. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    52 m
  • #339 Inherited Leukemia: Exploring Genetic Risk and Early Detection

    #339 Inherited Leukemia: Exploring Genetic Risk and Early Detection
    May 2 2025
    A week ago on DNA Day, April 25th, I launched a brand new science podcast network called Gene Pool Media. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including… RealPharmaBeyond The Thesis with Papa PhDDNA DialoguesIt Happened To Me#ThroughTheGenesDemystifying GeneticsPhenoTips Speaker Series All Access DNATwo brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality. And All Access DNA, which you are about to hear one of their recent episodes. I figured that would be a perfect way to celebrate the launch of Gene Pool Media. Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now! If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. In this episode drop of All Access DNA you will hear from genetic counselor Sarah Bannon, who discusses the complexities of inherited blood cancers, particularly leukemia. The host of All Access DNA is Kate Wilson; who will sound familiar as she is a co-host on the journal of genetic counseling’s podcast, DNA Dialogues and a podcast from the National Society of Genetic Counselors. In this conversation, Sarah Bannon discusses the complexities of inherited blood cancers, particularly leukemia, and the evolving role of genetic counseling in understanding and managing these conditions. She highlights the historical context of genetic research in blood cancers, the importance of family history in assessing risk, and the advancements in genetic testing that have led to better identification of hereditary cancer syndromes. The conversation also covers the implications of genetic testing results for patients and their families, the challenges faced in the field, and the rewarding aspects of working in this emerging area of genetic counseling. On This Episode We Discuss: What inherited blood cancers are and how they may run in familiesThere are many known genes linked to hereditary blood cancersHow genetic testing can help monitor family members for early signs of cancer.The role of clinical trials to explore preventative treatments for those at risk. Sarah is a genetic counselor with over 14 years of experience in cancer genetics, specifically leukemia and lymphoma. She is a widely sought expert on hereditary predispositions to hematologic malignancy, which has been the focus of her clinical care and research. Sarah works as a genetic counselor at the National Institute of Allergy and Infectious Diseases (NIAID). Here are more resources related to today’s topic, blood and bone marrow cancers: National Marrow Donor Program and Be The MatchLeukemia and Lymphoma SocietyClinicaltrials.gov tracks all clinical trials available in the USTeam Telomere - A Community for Telomere Biology DisordersRUNX1 Research ProgramFindageneticcounselor.org to find a genetic counselor near you Any inquiries for All Access DNA podcast can be sent to AllAccessDNA@gmail.com. Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    45 m
  • #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders

    #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders
    Apr 25 2025
    Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think about and treat these conditions today is evolving. In this second episode of a series focused on the evolution of UCD management, we discuss social determinants of health (SDOH) and how they impact patients with UCDs, examine the psychosocial burden of living with a chronic condition, and highlight how the multidisciplinary metabolic team can help patients and families overcome barriers to UCD management. Kendra J. Bjoraker, PhD, LP, is a pediatric neuropsychologist who specializes in rare genetic conditions. She served as faculty at the University of Minnesota and Children’s Hospital Colorado/University of Colorado and operates a dedicated practice, Bjoraker Neuropsychology Consultants, PLLC. Dr Bjoraker’s mission is to help identify and address psychosocial issues in patients with rare disorders in order to alleviate stressors associated with living with chronic conditions. Erika R. Vucko, APRN-NP, FNP, is a metabolic nurse practitioner at Ann & Robert H. Lurie Children’s Hospital of Chicago and faculty at the Northwestern University Feinberg School of Medicine. She is also the PKU Clinic Director at Lurie Children’s, co-created APRN metabolic follow-up clinic for patients with IEMs, and acts as a principal investigator for multiple clinical trials. She has provided clinical care for many patients with UCDs, among other genetic conditions. Her clinical interests include metabolic research, newborn screening, and lysosomal storage disorders. On This Episode, We Discuss: How socioeconomic and psychosocial factors impact a patient’s ability to engage in their UCD managementBest practices and opportunities for multidisciplinary metabolic clinicians to support the care of patients with UCDs and their familiesAvailable resources to help patients navigate SDOH and mental health barriers to UCD management Related Episodes: Episode #323: Supporting Ongoing Urea Cycle Disorder (UCD) Care A discussion about how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs Episode #282: The Evolution of Caring for Females With OTC Deficiency A conversation about ornithine transcarbamylase (OTC) deficiency, the most common UCD, and how care for symptomatic heterozygous females has evolved over time Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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. This episode is sponsored by AMGEN. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. USA-RABU-80050 04/25
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    43 m
  • #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors

    #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors
    Apr 18 2025
    Submitting a research paper for publication can be an overwhelming process, especially for early-career researchers. How do you choose the right journal? What are editors really looking for? And how can you improve your chances of acceptance? To answer these questions and more we are joined by two editors from Wiley’s Advanced Portfolio. Dr. Lei Lei is a Senior Manager of Wiley’s Advanced Portfolio and Deputy Editor of Advanced Science. Dr. Alanna Gannon is Deputy Editor of Advanced Science and Advanced Healthcare Materials. They both share insider tips on navigating the peer review process, selecting the best journal for your work, and setting yourself up for publishing success, whether you’re submitting your first paper or your tenth. On This Episode We Discuss: How to choose the right journal for your researchWhat editors look for when screening submissionsRed flags that can lead to rejectionTips for writing effective cover letters and response letters to reviewersThe benefits (and challenges) of open-access publishing How AI tools like ChatGPT are already influencing the writing and reviewing processCurrent trends in genetics publishing and where the field is headed Resources: Wiley Advanced Portfolio Wiley’s Journal FinderGenetics and Genomics: Advanced Science Collection Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal CollectionsWiley's AI guidelines for AuthorsWhat Makes a Successful Submission Wiley Blog PostEligibility for access to Research4Life Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health SciencesWiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . 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), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    36 m
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