Shows
It Happened To Me: A Rare Disease and Medical Challenges Podcast#59 From Diagnosis to Memoir: Laura Kieger’s Mission to Share Her Family’s FAP StoryIn this powerful episode of It Happened To Me, hosts Beth Glassman and Cathy Gildenhorn are joined by author, advocate, and healthcare leader Laura Kieger, who shares her family’s deeply personal journey with FAP (Familial Adenomatous Polyposis), a rare genetic condition that significantly increases the risk of colorectal and other cancers.
Laura’s memoir, Summer’s Complaint, chronicles the emotional and medical challenges her family has faced across generations, from diagnosis and genetic testing to coping with loss and finding resilience. As someone who tested negative for the familial mutation herself, Laura also opens up about "surviv...2025-05-0530 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#58 Living Deafblind: Carrie Francis’ Resilience After 5th Degree Facial CleftHosts Beth and Cathy sit down with Carrie Francis, a university student and passionate advocate for the blind, visually impaired, and deafblind communities. Carrie, born with a rare 5th-degree facial cleft, has overcome extraordinary medical challenges, including severe blindness and hearing impairment. Despite being told she wouldn’t survive beyond her first week of life, Carrie has defied the odds and is now pursuing a Bachelor’s degree in Psychology while dedicating her life to advocacy and community support.
Carrie shares her journey from childhood surgeries and speech therapy to navigating life as a deafblind perso...2025-04-2144 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#57 APOL1-Mediated FSGS: What Families Need to Know, from Diagnosis to AdvocacyJaime Albright Henighan shares her family’s journey after two of her sons, Joshua and Jorden, were diagnosed with a rare genetic kidney disease called APOL1-mediated FSGS (Focal Segmental Glomerulosclerosis).
Jaime’s story highlights the importance of early detection, education, and advocacy for families navigating this challenging condition. She discusses her partnership with Nephcure, a patient advocacy organization, and her mission to raise awareness about FSGS, especially among individuals of West African descent, who are at higher risk due to the APOL1 gene mutation.
Topics Covered:
What is FSGS?: Unders...2025-04-0730 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#55 Growing Up with a Childhood Autoimmune Disease with Beth GlassmanCo-host Cathy Gildenhorn takes on the interviewer role to explore the personal story of her co-host, Beth Glassman. Beth shares her journey of living with a childhood autoimmune disease, offering insights into her diagnosis, its impact on her early life, and how it shaped her perspective as an adult.
On Episode #54, Beth interviewed Cathy about her journey to parenthood through infertility and adoption. Now, the roles are reversed as Cathy delves into Beth’s experiences, highlighting the challenges, lessons, and resilience that come from growing up with an autoimmune condition called uveitis.
Top...2025-03-0341 min
DNA Dialogues: Conversations in Genetic Counseling Research#13- Rare Disease Day 2025: Digital Tools for Rare Conditions & Navigating Ultra-rare DisordersIn this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder.
Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study
Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned...2025-02-2748 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#54 Family Planning Challenges: Cathy Gildenhorn on Miscarriages and The Miracle of AdoptionIn this heartfelt episode of It Happened To Me, we’re turning the microphone inward as co-host Beth Glassman interviews her co-host and dear friend, Cathy Gildenhorn. Cathy shares her deeply personal journey through family planning, recurrent miscarriages, and adoption, offering hope and guidance to listeners navigating similar challenges.
Cathy’s story is one of resilience, love, and the transformative power of creating a family through adoption. From the emotional toll of miscarriages and ectopic pregnancies to the joy of welcoming her children into her life, Cathy provides an honest and inspiring look at her path to moth...2025-02-1730 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#53 From Journalist to Advocate: Laura Bonnell’s Mission to Support Cystic Fibrosis FamiliesIn this episode of It Happened To Me, co-hosts Beth Glassman and Cathy Gildenhorn sit down with Laura Bonnell, a seasoned journalist with 25 years of experience in Detroit, founded The Bonnell Foundation in 2010 after her daughters, Molly and Emily, were born with cystic fibrosis (CF). Despite having ten siblings between them, Laura and her husband, Joe, had no idea they were carriers of the disease, as no one else in either family had been diagnosed with CF.
Driven by her personal experience and professional expertise, Laura used her platform as a reporter to raise awareness about CF...2025-02-0348 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#52 Adaptive Toys for Kids with Disabilities: Inspiration from Daughter with Rett SyndromeIn this episode of It Happened To Me, we’re honored to welcome Sam Ahlstrom, father to Zoey, a remarkable young girl living with Rett syndrome. Sam shares his family’s journey from diagnosis to advocacy, offering an inspiring look into how they’ve transformed challenges into opportunities for connection and innovation.
Rett syndrome is a rare neurological disorder that impacts nearly every aspect of life, from mobility to communication. Sam recounts his family’s experience navigating this complex condition, from recognizing the early signs to adapting their daily routines. He also discusses the emotional and practical hurdles...2025-01-2041 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#51 Niemann-Pick Type C: Understanding Symptoms, Genetics, and New TreatmentsIn this episode of It Happened To Me, we dive into the world of Niemann-Pick Type C (NPC), a rare genetic condition that affects fewer than 1,000 people in the United States. NPC is a progressive disorder impacting the brain, nerves, and major organs, often referred to as "childhood Alzheimer’s" due to its neurological effects.
Our guests bring both personal and professional expertise to the conversation:
Barbara Lazarus is the mother of two adult sons (now in their 30s), who have Niemann-Pick Type C disease. David is taking Myplyffa, through an expanded access program. Both David and...2025-01-0646 min
DNA Dialogues: Conversations in Genetic Counseling ResearchDNA Today: Genetics Wrapped 2024: Top Advances in Genomic MedicineWe’re thrilled to share a special episode drop from one of our producers, Kira Dineen, and her flagship podcast, DNA Today! As a multi award winning genetics podcast with over 12 years of groundbreaking episodes, DNA Today explores the latest in genetics and genomics through expert interviews and engaging discussions.
To celebrate the new year, this episode reflects back on the top genetics and genomics news stories during 2024. The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2024” paper.
Joining Kira Dineen for this disc...2025-01-0249 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#50 Neuromuscular Neurology Explained: Symptoms, Treatments, and Advances with Dr. BucelliTo celebrate our 50th episode we are honored to welcome Dr. Robert Bucelli on the show. He is a leading expert in neuromuscular neurology and a dedicated advocate for advancing treatments for neuromuscular disorders.
In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as:
What neuromuscular neurology entails and who is affected.
The role of genetics in diagnosing and treating neuromuscular disorders.
Common symptoms, risk factors, and diagnostic approaches.
How therapies like physical and occupational therapy play a role in management.
Lifestyle modifications, including diet and exercise, to minimize r...2024-12-1640 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#49 Living with NMOSD: Alex Brito's Journey of Resilience and AdvocacyIn this inspiring episode of It Happened To Me, hosts Cathy and Beth sit down with Alex Brito, a remarkable advocate in the rare disease community and one of the first 100 individuals diagnosed with neuromyelitis optica spectrum disorder (NMOSD). NMOSD is a rare neurological disease that affects an estimated 6,000 Americans, causing severe and unpredictable relapses that can lead to vision loss, chronic pain, and paralysis.
Alex shares her journey, from the challenges of misdiagnosis and temporary paralysis to her empowering outlook on life with NMOSD—she affectionately refers to the condition as “her bestie.” Alex’s dedication to advoc...2024-12-0228 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#48 Sudden Cardiac Death with The Dressmaker’s Mirror’s Dr. Susan LiebmanIn this episode of It Happened To Me, we are honored to speak with Dr. Susan W. Liebman, a trailblazing molecular geneticist whose work has revolutionized our understanding of protein misfolding diseases such as ALS and Alzheimer’s. Dr. Liebman has spent her career using yeast as a model organism to uncover the mechanisms behind these diseases, advancing the field of molecular genetics. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early femal...2024-11-1838 minDNA Dialogues: Conversations in Genetic Counseling Research#9 Black Previvor and Survivor Breast Cancer Genetic Testing ExperiencesIn this episode we discuss a research study that focuses on Black women who tested positive for a pathogenic variant associated with an increased risk for breast cancer. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Please note that the terminology used refers to women to reflect the language used in the paper, and all genders can have a risk to develop breast cancer.
Segment 1: “A qualitative study of Black breast cancer previvors' and survivors' experiences after positive genetic testing”
Malika Sud...2024-10-3144 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#46 Decoding Colon Cancer: Expert Insights on Screening and Genetics from Gabrielle ShermanskiTo learn about colon cancer, we are joined by Gabrielle Shermanski. Gabrielle Shermanski completed her Master of Science in Human Genetics at Sarah Lawrence College in 2020. She is a licensed, board-certified Genetic Counselor at Geisinger with 4 years of clinical experience in adult oncology. Gabrielle's primary interests include helping patients with inherited breast cancer syndromes and inherited GI syndromes facilitate further care and communicate results to family members. Gabrielle has a strong interest in education, mentorship, and outreach opportunities. Her hobbies outside of work include cooking and hanging out with her puppy, RJ.
During the episode G...2024-10-2127 minDNA Dialogues: Conversations in Genetic Counseling Research#2 Intersection of the Disability Community and Genetic Counseling Training/PracticeIn our second episode, we explore two recent articles focusing on the intersection of the disability community and genetic counseling training and practice.
Segment 1: “Disability education and implications for genetic counselor training”
Lauren Douglas (she/her) serves as an oncology genetic counselor and supervisor for graduate student rotations at MHealth Fairview in Minneapolis, MN. She received a degree in Genetic Counseling from the University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences in 2021. Outside of work, she finds joy in practicing yoga, enjoying the outdoors, and cheering on her...2024-10-0845 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#43 Shari Ship on Donating Her Kidney to SonShari Ship's story is a remarkable tale of a mother's unwavering love and sacrifice for her son. As a widow and caregiver to her 97-year-old mother, Shari selflessly donated a kidney to her son Zachary, who was diagnosed with a rare autoimmune disease called membranous nephropathy that attacked his kidneys. Despite the challenges of caring for her ailing husband who passed away from lung cancer, Shari remained steadfast in her commitment to her family.
When Zachary's condition worsened, leading to end-stage renal failure, Shari made the courageous decision to become a living kidney donor for h...2024-09-0247 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#42 Huntington’s Disease with Tanita AllenIn this episode of It Happened To Me, hosts Cathy and Beth are joined by Tanita Allen, a resilient advocate for Huntington’s Disease (HD) and the author of the touching memoir, We Exist. Tanita shares her personal journey with HD, from her initial symptoms and challenging diagnostic process to her current role as a self-advocate and member of The HD Community Advisory Board.
Tanita discusses the complexities of living with HD, a condition often described as a combination of Parkinson’s, ALS, and Alzheimer’s. She offers insight into the importance of genetic testing, the imp...2024-08-1937 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#41 Dwarfism with Colleen Gioffreda“The most charming person I have ever met” is how our host Beth describes the guest in this episode, so you are in for a treat. We have the dynamic, charismatic Colleen Gioffreda! 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 h...2024-08-0557 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#39 Genetic Testing for Rare Diseases with Amy PattersonGenetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias.
Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of re...2024-07-0142 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#37 Congenital Hyperinsulinism with Advocate Julie RaskinIn this enlightening episode, we are joined by Julie Raskin, Chief Executive Officer of Congenital Hyperinsulinism International (CHI). Julie's journey began when her son Ben was born with congenital hyperinsulinism (HI), a condition that causes the overproduction of insulin leading to severe hypoglycemia. Determined to improve Ben’s life and the lives of others affected by HI, Julie co-founded CHI in 2005.
Discussion Topics:
Julie shares her son Ben’s story, his diagnosis with HI, and the journey that led to the formation of CHI.
Symptoms of congenital hyperinsulinism (HI) and the challenges in dia...2024-06-0351 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#36 Cochlear Implant Surgery and Recovery with Marc BassinIn the last episode of "It Happened To Me," (Episode 35) Marc Bassin shared his experience of sudden hearing loss in his left ear. After four years and countless healthcare providers, he went through with having a cochlear implant surgery.
The first interview in Episode 35 was recorded before his surgery. If you haven't yet listened to Marc's previous episode on the podcast, we highly recommend checking it out for a comprehensive understanding of his journey leading up to the surgery.
This episode was recorded after Marc recovered from the procedure and shares his...2024-05-2033 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#35 Sudden Hearing Loss with Marc BassinDespite leading an active lifestyle, Marc experienced a sudden and unexpected loss of hearing in his left ear, dramatically altering his daily life. Join us as Marc shares his courageous journey from the onset of hearing loss to his upcoming cochlear implant surgery.
Marc is not your typical real estate professional. With a penchant for adventure, he spends his leisure time biking thousands of miles annually, hitting the golf course, playing pickleball, and conquering ski slopes. However, his world was turned upside down on October 26th, 2019, when he encountered the startling reality of sudden hearing l...2024-05-0636 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#33 Tay-Sachs and Grief with Myra SackIn our last episode (#32), we had the privilege of speaking with Matthew Goldstein, CEO of JScreen, about genetic screening. In this conversation, we are honored to welcome his wife, Myra Sack, a writer, coach, and activist, to share her family's journey and honor the memory of their daughter, Havi, who passed away from Tay-Sachs disease in 2021.
Myra Sack is not only a dedicated parent but also a passionate advocate and writer. Her memoir, Fifty-Seven Fridays, is a poignant reflection on navigating life's most painful realities and finding beauty amidst grief. With a background in social i...2024-04-0133 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#32 Tay-Sachs and Carrier Screening with Dr. Matthew GoldsteinA physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families.
Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third R...2024-03-181h 05
It Happened To Me: A Rare Disease and Medical Challenges Podcast#31 Blood Transfusion Therapy with Lori Harada & Carly NewtonIn this episode we are learning about blood transfusion therapy with a focus on the patient experience.
Our Executive Producer, Kira Dineen, joins as a co-host since she has a scientific background.
Lori Harada is a registered nurse who also serves as Senior Manager, Technical Excellence Team, for Terumo Blood and Cell Technologies. This is a team of 12 specialists who provide education and support for both the Spectra Optia® Apheresis System and the Trima Accel® Automated Blood Collection System.
Lori is no stranger to this industry. She brings...2024-03-0439 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#30 Rare Disease Advocacy with Wes MichaelIn honor of Rare Disease Month, we're thrilled to welcome a special guest to our podcast episode: Wes Michael, President, and Founder of Rare Patient Voice. With over two decades of experience in rare and orphan diseases, Wes has dedicated his career to amplifying the voices of patients and caregivers in medical research and development. Join us as we delve into the story behind Rare Patient Voice, its mission, and the invaluable role it plays in shaping the future of healthcare.
Before we dive into our conversation with Wes, let's take a moment to acknowledge R...2024-02-1936 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#29 Exploring the Potential of Artificial Corneas with Dr. Esen AkpekIn this riveting episode of 'It Happened to Me', join co-hosts Cathy Gildenhorn and Beth Glassman as they sit with Dr. Esen Akpek, a leader in corneal and stem cell transplantation. Listen as Dr. Akpek sheds light on emerging research around a groundbreaking synthetic corneal device. This conversation is a beacon of hope for those at high risk of failure from traditional donor corneal transplants and for anyone interested in advancements in ophthalmology.
Discover the intricacies of corneal transplantation, the common eye disorders that affect corneal transparency, and the importance of regular eye check-ups and vaccines in...2024-02-0523 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#28 Dry Eye with Dr. Esen AkpekWe are joined by Dr. Esen Akpek to discuss dry eye, what it is and what we can do to relieve it.
Dr. Esen Akpek (she/her) is the Bendann Family Professor of Ophthalmology at The Wilmer Eye Institute, The Johns Hopkins University Medical School. Her area of expertise is in the fields of ocular surface diseases and corneal transplantation. Her current research centers around developing a synthetic corneal device for patients who are at high risk of failure with donor corneal transplantation. She combines the rare characteristics of superior surgical skill and patient empathy. You...2024-01-1535 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#27 Prevention of Blindness SocietyTwo experts from the Prevention of Blindness Society: Sean Curry and Caren Forsten, join as our guests for our first episode of 2024!
Sean Curry, MPH, serves as program director for the Prevention of Blindness Society (POB) of Metropolitan Washington. In this role, he oversees the POB’s comprehensive suite of low vision programs, the See For Yourself screening and education program, and program measurement and evaluation activities. Sean also provides guidance for POB’s public health information initiatives.
Previously, Sean worked in public health promotion with Penn Medicine Lancaster General Health. Sean ear...2024-01-0137 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#26 Wolfram Syndrome Expertise from Dr. Fumihiko UranoWe are thrilled to have Dr. Fumihiko Urano on “It Happened To Me” as he is our co-host Cathy’s lead doctor, for her variant of the rare disease, Wolfram Syndrome.
Fumihiko “Fumi” Urano, MD, Ph.D., is a Physician and Medical Researcher specializing in Wolfram syndrome, characterized by juvenile-onset diabetes, vision loss, and neurodegeneration. Dr. Urano is a Professor of Medicine and Pathology & Immunology, an attending physician at Endocrinology Genetics Clinic, and currently holds Samuel E. Schechter Endowed Professorship in Medicine at Washington University Medical Center, St. Louis, USA. Dr. Urano is a driving force in the...2023-12-1833 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#25 Pancreatic Cancer with Patient Advocate Leslie WaldmanPancreatic cancer occurs when a cell in the pancreas is damaged, causing the malignant or cancer cell to form in the tissue of the pancreas. The pancreas is a gland about 6 inches long and is shaped like thin pear lying on its side. The pancreas lies between the stomach and the spine.
The risk of developing pancreatic cancer increases with age, with about ⅔ of patients being diagnosed at age 65 or older. Slightly more men than women are affected.
Cigarette smoking is one of the biggest risk factors. Other risk factors include:
Being ove...2023-12-0444 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#24 Neuro-Ophthalmic Disorders with Dr. Andrew CareyWe are honored to have Dr. Andrew Carey as a guest on this episode of on It Happened To Me. As a disclosure, Dr. Carey is our co-host Cathy Gildenhorn’s Doctor who diagnosed her rare disease, Wolfram Syndrome.
Andrew R. Carey, MD (he/him) is an Assistant Professor of Ophthalmology in the division of Neuro-Ophthalmology at the Wilmer Eye Institute. He specializes in neuro-ophthalmic disorders such as optic neuritis, uveitis related papillitis, ischemic & hereditary optic neuropathies as well as diseases of the retina, including age-related macular degeneration, diabetic retinopathy, toxic retinopathies and inherited disorders of t...2023-11-2055 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#23 Autoimmune Conditions with Dr. Colby KashDr. Colby Kash is featured on this episode of “It Happened To Me”. Dr. Kash is the author of The Autoimmune Plague: How to Regain Sovereignty Over Your Body and Life.
He is an author who has pivoted out of clinical practice and is dedicated to improving health through modern technologies and evolutionary biology. Dr. Kash is also a lecturer on wellness and a co-founder of biotechnology companies and an investment group.
Dr. Kash has experienced his own set of Medical Challenges. Crippling digestive issues that advanced to Crohn’s disease, as well as psoriasis and infla...2023-11-0654 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#22 Papillary Thyroid Cancer with Carly FlumerCarly Flumer was diagnosed with stage I papillary thyroid cancer at the age of 27 and again at 31. While being diagnosed with cancer at such a young age was a surprise, as it would be to anyone, she found strength, support, and inspiration in sharing her cancer journey on social media. As a result of her health outcome, she looks to advocate for other cancer patients through education, research, and health literacy. She received her Master’s degree from Boston University in Health Communication and Bachelor’s from George Mason University in Health Administration and Policy.
Resour...2023-10-1620 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#21 Wolfram Syndrome with Parent Pat GibiliscoWe are releasing this episode in honor of Wolfram Syndrome Global Awareness Day which is celebrated on October 1st. The Wolfram Syndrome community worldwide is working to increase awareness and ultimately find a cure for Wolfram Syndrome. To learn more about Wolfram you can also listen to Episodes 3, 5, 9, and 18 of It Happened To Me.
Pat Gibilisco is Patient Advocacy Liaison for the Snow Foundation for Wolfram Syndrome research. Pat is Co-Founder of the first Wolfram Syndrome Website and Family Support Group, which launched in 1998 when her 12-year-old daughter, Lauren, was first diagnosed with Wolfram Syndrome. I...2023-10-0228 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#20 Familial Dysautonomia FoundationIn this episode of It Happened To Me we are learning about the genetic conditions Familial Dysautonomia with three lovely guests: Lanie Etkind, Rita Taryan, and Keshi Taryan-Kigel.
Lanie Etkind was appointed Executive Director of the Familial Dysautonomia Foundation in 2017. Lanie's professional background has included fundraising roles in both healthcare and the performing arts. Lanie recently completed a Certificate program in NonProfit Leadership in cooperation with Northwestern University.
Rita Taryan and her daughter, Keshi Taryan-Kigel, also join the show. Keshi is a Familial Dysautonomia (or FD) patient in her early 30s and...2023-09-1848 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#19 Pierre Robin Syndrome with Corinne MerlinoCorinne Merlino was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling.
Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients.
With our Exe...2023-09-0436 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#18 Hattersley-Urano Wolfram Syndrome with Parent Tamara BlumIn this episode we continue our conversation with Tamra Blum. Tamara was on the last episode (Episode #17) of It Happened To Me where we discussed mental health. Tamara shared her expertise as a licensed clinical social worker to help listeners develop a mental health toolkit and answered several FAQs about therapy and more.
Tamara is a Licensed Clinical Social Worker (LCSW) in St. Louis, Missouri with a MSW from the Brown School at Washington University. She has worked with grieving families, on college campuses, and as a graduate and post-graduate level supervisor. Tamara has also ser...2023-08-2133 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#17 Mental Health Help with Social Worker Tamara BlumIn this episode our guest is Tamara Blum. Tamara is a Licensed Clinical Social Worker (LCSW) in St. Louis, Missouri with a MSW from the Brown School at Washington University. She has worked with grieving families, on college campuses, and as a graduate and post-graduate level supervisor. Tamara has also served as a consultant to the National Center for Deaf-Blindness and has been providing psychotherapy and mental healthcare in her private practice serving teens, adults, couples, and families since 2012.
Tamara is the proud single mom of 6 children. Her 5 surviving children includes 26-year-old Andrew who has the...2023-08-0742 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#16 ALS with Brooke EbyAt the age of 29, Brooke received a devastating diagnosis. After four years of confusing symptoms in her leg, Brooke Eby was diagnosed with ALS in March 2022. She hopes to spread awareness of amyotrophic lateral sclerosis (ALS) to as many people as possible and laugh along the way. Brooke has appeared as a guest on the Today Show, interviewed by Savannah Guthrie. You can also read the essay she wrote for the Today Show.
Brooke, thank you so much for sharing your story with us. Listeners, you can follow along with her journey across all social m...2023-07-1739 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#14 Multifocal Motor Neuropathy with argenxWe have two incredible guests this episode who share their expertise about an autoimmune condition multifocal motor neuropathy: patient advocate Jennifer Burgand and argenx’s Chief Scientific Officer Dr. Peter Ulrichts.
Jennifer Burgand, originally from WI moved to Atlanta, GA after college and was an elementary school teacher and assistant principal UNTIL the Big Apple called her name and she is now a successful Channel Sales Manager. Jennifer has been a fitness enthusiast since she was a young child. She was in gymnastics and dance from the age of 5 and as she got older sh...2023-06-1944 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#13 Medical Challenges Toolkit with Kimberly CallinanKimberly Callinan provides a toolkit for medical challenges throughout life.
Kim Callinan is the President and CEO of Compassion & Choices where she has had a leadership role in realizing patient directed end of life care for the past seven years. Kim is frequently invited to speak at conferences, testify before state legislatures, conduct policy briefings and serve on committees as an expert on end-of-life care options.
In this episode our conversation will not focus on End of Life care, it will focus on helping listeners become empowered consumers. Consumers...2023-06-0533 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#12 Bardet Biedl Syndrome with The Alms (Part 2)Be sure to listen to part 1 in Episode #11!
Parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations.
You can learn more about Everett in this article.
Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Po...2023-05-1549 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#11 Bardet Biedl Syndrome with The Alms (Part 1)Parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations.
You can learn more about Everett in this article.
Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast pl...2023-05-0143 min
DNA Today: A Genetics Podcast#233 At-Home Non-Invasive Prenatal Screening with Juno DiagnosticsWe are officially launching our Patreon next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day...2023-04-2100 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#10 Low Vision with Dr. Judith GoldsteinDr. Judith Goldstein shares her insight on low vision as an Associate Professor of Ophthalmology and the Chief of the Low Vision and Rehabilitation Department at Wilmer Johns Hopkins.
Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.
It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and...2023-04-1745 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#9 Wolfram Syndrome with Stephanie Gebel SnowStephanie Gebel Snow shares her perspective as a patient advocate creating the Snow Foundation for Wolfram Syndrome research. Check out The Snow Foundation.
Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.
It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today’s Kira Dineen...2023-04-0338 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#8 Oculoplastic Surgery with Dr. Shannath MerbsOculoplastic surgeon Shannath Merbs shares her expertise in cosmetic and reconstructive surgery of the eyelids, orbit, and face.
Dr. Merbs is a Professor of ophthalmology and Visual Science at the University of Maryland, School of Medicine. Dr. Merbs is an Oculoplastic surgeon specializing in cosmetic and reconstructive surgery of the eyelids, orbit and face.
The discussion in this episode is in two parts. In the first half of the conversation we focus on Dr. Merbs’s surgical practice in Baltimore. The second part we dive into her research and he...2023-03-2026 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#7 Prenatal and Cancer Genetic Testing with Karen Grinzaid
JScreen Genetic Counselor Karen Grinzaid explains the options for genetic testing for cancer risk and the chance to have a biological child with a genetic condition.
Karen A. Grinzaid is an Assistant Professor of Human Genetics and the Executive Director of JScreen, a national online genetic disease screening program based out of Emory University School of Medicine. She has extensive experience in prenatal, pediatric and adult genetic counseling and testing, as well as clinical care and clinical research. Karen is proud of JScreen’s success in helping couples across the United States have he...2023-03-0626 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#6 Glaucoma with Dr. Mona KaleemDr. Mona Kaleem is an associate professor of ophthalmology at Wilmer Johns Hopkins in North Bethesda, Maryland.
In this episode Dr. Kaleem shares her expertise about risk factors, screening, diagnosis, resources, development, and treatment for glaucoma. Dr. Kaleem shares resources including her own podcast, Diagnosis Glaucoma and Sigtwise, a project designed by Dr. Kaleem to evaluate eye clinics for accessibility.
In This Episode We Discuss:
Types of glaucoma
Risk factors to develop glaucoma
Diagnosis of glaucoma
Treatments for glaucoma
...2023-02-2024 min
DNA Today: A Genetics Podcast#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOneIn this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, a...2023-02-1700 min
DNA Today: A Genetics Podcast#223 PhenoTips: Rare Disease Diagnosis WorkflowHappy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.DNA Today’s host Kira Dineen is also one of t...2023-02-1000 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#5 Wolfram Syndrome with Dr. Sarah GladstoneDr. Sarah Gladstone joins the show to share her perspective of Wolfram Syndrome being a parent of a child with the condition and a physician.
Sarah Gladstone (She/Her) is a pediatrician who completed her MD at Vanderbilt University and pediatric residency at The Children's Hospital of Boston prior to practicing in primary care for 15 years. She began working with WS researchers and parents to facilitate communication and help find a treatment for WS after her daughter was diagnosed with WFS1-Related Disorder in 2016. Sarah started the Unravel Wolfram Syndrome Fund to support WS research by Dr...2023-02-0738 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#4 Genetic Counseling for Rare Diseases with Kira DineenGenetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community.
Co-producer Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her multi-award winning podcast, "DNA Today", is in the top 1% of podcasts globally. She was accepted into The Podcast Academy and has served as a Blue Ribbon Panelist for The Ambies. Kira received her Diagnostic Genetic Bachelor’s...2023-01-2330 min
DNA Today: A Genetics Podcast#220 Microfluidics with Franz PrueferThis week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts.Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more!Under the biotech div...2023-01-2000 min
DNA Today: A Genetics Podcast#219 It Happened To Me Podcast: Genetic Counselors for Rare DiseasesA new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me. In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories. Hope you enjoy this ep...2023-01-1300 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#3 Wolfram Syndrome with Cathy GildenhornBeth Glassman interviews her co-host Cathy Gildenhorn about her rare disease, Wolfram Syndrome.
Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.
It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today’s Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our gr...2023-01-0916 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#2 Glaucoma and Low Vision with Beth GlassmanCathy Gildenhorn interviews her co-host Beth Glassman about her journey with glaucoma and low vision.
Co-host Beth Ourisman Glassman is a third-generation Washingtonian with a deep interest in health care. She is a trustee of the Sibley Memorial Hospital Foundation in Washington and co-chair of A Woman’s Journey for the National Capital Area, the 27-year-old women’s health program established by Johns Hopkins Medicine. Beth is passionate about empowering women to make the best health care decisions for themselves and their families. Having experienced health challenges herself, she believes that the power of conn...2023-01-0916 min
It Happened To Me: A Rare Disease and Medical Challenges Podcast#1 Inspiration to Launch “It Happened To Me”o-host Cathy Zacks Gildenhorn has devoted much of her life to improving the lives of others and connecting women to Jewish life and each other. She has served on several local, national and international boards. Cathy also served as presidential appointee to the United States Holocaust Memorial Council and worked on the opening of the museum. Currently, Cathy serves as editor in chief and designated spokesperson for the book, Redefining Moments: End of Life Stories for Better Living. Several years ago Cathy was diagnosed with a rare, genetic disease. Since then she has passionately dedicated her life to creating...2023-01-0921 min
It Happened To Me: A Rare Disease and Medical Challenges PodcastTrailer: It Happened To MeWe are thrilled to announce our brand new podcast, It Happened To Me, I’m not alone and neither are you. This show explores rare diseases and medical challenges.
Our mission is to support you, our listeners, by creating community as you confront the toughest challenges in life. We aspire to help you overcome limitations and live a full and satisfying life.
Our hosts are Cathy Gildenhorn and Beth Glassman who draw from their own health challenges while interviewing guests to capture their stories and expertise.
...2022-12-3102 min
DNA Today: A Genetics Podcast#215 Preventative Health via Whole Exome SequencingOur guest today is Dahlia Attia-King, Founder and CEO of Panacea. Panacea’s mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health. Dahlia’s education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barri...2022-12-1600 min
DNA Today: A Genetics Podcast#210 Reproductive Medicine Family History with Tristan HardyAfter two years of virtual NSGC conferences, I can’t wait to see many of you in Nashville next week! Say “hi” if you see me! If you want to be featured in our NSGC recap episodes, let me know. I would love to capture your impression of the conference to feature on the episode. Maybe you will get DNA Today merch in exchange… I will be spending a lot of time in the exhibit hall, so look for me there. As some of you may know our host, Kira Dineen, is a prenatal genetic c...2022-11-1100 min
DNA Today: A Genetics Podcast#209 Aspects of Quality Genetic Testing with Blueprint GeneticsWhen our host, Kira Dineen, began her career as a genetic counselor she was mostly starting from scratch because the private practice she works at hadn’t had a genetic counselor in two years. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. As a brand new genetic counselor, it was hard for Kira to figure out what the important aspects of genetic testing were, so she wanted to dive into what makes a quality genetic test in this episode. We’re joined by two...2022-11-0400 min
DNA Today: A Genetics Podcast#207 N-Lorem: Dr. Sessions Cole on the Diagnostic OdysseyAs some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where I picked his brain about...2022-10-2100 min
DNA Today: A Genetics Podcast#204 Mosaicism with FUTR PodcastAre you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you...2022-09-3000 min
DNA Today: A Genetics Podcast#203 CTNNB1 Syndrome with Effie Parks of Once Upon a GeneAre you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entr...2022-09-2336 min
DNA Today: A Genetics Podcast#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri HegdeLearn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.We’re joined by genetic counselor, Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today, which was a really fun episode where we geeked out on the...2022-09-1600 min
DNA Today: A Genetics Podcast#201 Sickle Cell Disease with Lifting the VeilIt’s Sickle Cell Awareness month, so we are sharing this episode of Lifting the Veilpodcast where Beveraly Mills and Elaine Buck interview our host, Kira Dineen, about the condition!On Lifting the Veil, Beverly and Elaine cover, and uncover, the truth about African-American history. Misconceptions, lies, skewed facts, and untruths about the African-American narrative get straightened out here, once and for all.On This Episode We Discuss:Health disparities specifically in black communityBirth mortality rates of black people Funding/support for...2022-09-0900 min
DNA Today: A Genetics Podcast#200 Reflecting on a Decade of DNA TodayThis is a milestone episode for two reasons. As you may have noticed, it’s our 200th episode. Technically we had about 20 episodes prior to numbering them, but these are mini lessons and not really full episodes. These started when we were broadcasting live from WHUS 91.7 FM.The other milestone is that September 1st marks 10 years of DNA Today. We released our first episode in 2012. Back then our host and producer, Kira Dineen, was starting her senior year of high school, fast forward a decade and now she has her masters in genetics and has be...2022-09-0200 min
DNA Today: A Genetics Podcast#190 PhenoTips: Gender Affirming Care in Genetic CounselingHappy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode.DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with th...2022-06-2400 min
DNA Today: A Genetics Podcast#189 Building Inclusive Pedigrees with PhenotipsTo celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips.The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it’s released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen!As a queer...2022-06-1700 min
DNA Today: A Genetics Podcast#188 Propionic and Methylmalonic Acidemia with HemoShear TherapeuticsPropionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia. He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is...2022-06-1000 min
DNA Today: A Genetics Podcast#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy ChungWe are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano...2022-05-2700 min
DNA Today: A Genetics Podcast#185 Nutrigenomics with Yael JoffeJoining us this week is Dr. Yael Joffe, Founder and Chief Scientific Officer of 3X4 Genetics, a genetic testing partner for providers that allows them to bring genetic testing into their practice so that they can provide patients with more personalized and DNA-based actionable insights that will help them live better, longer, and healthier lives. Dr. Joffe is also a fellow podcaster! She is the host of The Power of Genetics, a podcast that features inspiring conversations and practical advice from the world’s top expert practitioners at the forefront of the future of health. Dr...2022-05-2000 min
Patient Empowerment Program: A Rare Disease PodcastPatient Empowerment ProgramWe are excited to announce n-Lorem’s brand new podcast, the "Patient Empowerment Program".
There are podcasts about genetics and rare diseases, but we didn’t find one focused on nano-rare diseases, conditions that affect 30 or less people in the world.
Listen to this trailer to hear a sneak peak at what’s coming up on the podcast.
There are going to be two types of episodes on this podcast, interviews and lessons. All episodes are hosted by biotech titian, Dr. Stan Crooke. He is the Founder, Chairman and CEO of the n-Lorem Founda...2022-05-1602 min
DNA Today: A Genetics Podcast#180 Reproductive DNA Testing with MiteraWe are excited to share that Kourtney Kardashian recently featured in DNA Today in an article on Poosh, “How Genetics Play the Ultimate Role in Health”. Our host, Kira Dineen, shares insight on genetic counseling and epigenetics. The Chief Medical Officer of Mitera, Dr. Kathy Salari, joins the show. Mitera is a telehealth company that offers a unique care model that uses remote technologies and subspecialty medical oversight to responsibly democratize access to reproductive genetic testing. On this episode, Dr. Salari will be sharing about Mitera’s at-home reproductive genetic testing options including non-invasive prenata...2022-04-1500 min
DNA Today: A Genetics Podcast#179 Genetic Testing with Kira DineenThis week we’re bringing you a special episode of DNA Today! Our host, Kira Dineen, was recently a guest on The Science of Everything Podcast, discussing genetic testing with host, James Fodor. Kira thoroughly enjoyed her experience being a guest on this podcast, so we’ve decided to also release the episode on the DNA Today podcast feed! To give you a teaser… we covered a range of genetic testing topics from the process and science behind the testing, types of conditions that can be tested for, and the difference between genotyping and sequenc...2022-04-0800 min
DNA Today: A Genetics Podcast#178 Single-Cell Spatial Genomics with VizgenDr. George Emanuel shares about single-cell spacial genomics in this podcast episode. Dr. Emanuel is the Scientific Cofounder and Director of Technology and Partnerships at Vizgen, a biotechnology company that is dedicated to pioneering the next generation of spatially resolved transcriptomics profiling tools to provide new insight into the biological systems that underlie human health and disease. Spatial genomics is a new frontier in molecular biology, which aims to assay the genomic information of single cells within their native tissue environment, combining spatial transcriptomics with single-cell sequencing. This exciting technology was named Nature’s "Met...2022-04-0100 min
DNA Today: A Genetics Podcast#177 Whole Genome Sequencing with PerkinElmer GenomicsWorld-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University o...2022-03-2500 min
DNA Today: A Genetics Podcast#172 PhenoTips: Advances in Rare Disease DiagnosisDNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz.With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end o...2022-02-1800 min
DNA Today: A Genetics Podcast#167 PhenoTips: Future of Cancer GeneticsDNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Cancer Genetics”.Thanks to advancements in genome sequencing, physicians are equipped with improved knowledge on the causes of cancer, as well as alternative treatment options for specific cancers. Despite this growing wealth of cancer genomics data, experts remain unclear on how to transl...2022-01-141h 17
DNA Today: A Genetics Podcast#166 Beta Thalassemia with Radhika SawhSpotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts! We also wanted to give a shoutout for a Twitter Spaces...2022-01-0700 min
DNA Today: A Genetics Podcast#165 Sequencing for Cancer Risk with Sandra BalladaresIn this week’s episode, our host, Kira Dineen, is joined by Dr. Sandra Balladares to explore utilizing sequencing to assess inherited cancer risk.On This Episode We Discuss:Sandra’s personal experience with breast cancer The difference between Sanger Sequencing and Next Generation SequencingSequencing versus genotypingVarious number of genes on a hereditary cancer panelHow the availability and accessibility of genetic testing differ around the worldDr. Balladares is currently the HLA Typing Franchise Leader at Thermo Fisher Scientific. She forme...2021-12-1700 min
DNA Today: A Genetics Podcast#164 Parkinson’s Disease with the Parkinson’s FoundationThis week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research. On This Episode We Discuss:How Parkinson’s Disease (PD) affects the bodyGenes that play a role in the development of PD Genetic testing for family members of patients with PDThe PD GENEration project and how it is helping people with PDUnderrepresentation of Hispanic people in PD genetic research How to achieve more inclusivity with rese...2021-12-0336 min
DNA Today: A Genetics Podcast#162 PhenoTips: Future of Genetic CounselingDNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Genetic Counseling”.This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast a...2021-11-1200 min
DNA Today: A Genetics Podcast#161 Phenotips: Digital Tools in Genetic CounselingDNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Adoption and Impact of Digital Tools in Genetic Counseling”. This episode features a panel of genetic counselors, who are digital champions at their respective practices, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools.2021-11-0500 min
DNA Today: A Genetics Podcast#159 Black Cancer Genes on Breast CancerWe are ecstatic to announce that DNA Today won the Best 2021 Science and Medicine Podcast Award. A HUGE thank you to all you listeners who nominated and voted for the show. It is such an honor to win this award two years in a row. As you may recall, this is a People’s Choice Award, so it truly is thanks to your support that we won. It’s been such a fun journey over the last 9 years hosting and producing DNA Today and it’s because of you listeners that we have amazing sponsors who keep the show runnin...2021-10-1500 min
DNA Today: A Genetics Podcast#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month!Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed...2021-09-1729 min
DNA Today: A Genetics Podcast#155 Genetic Counseling Grad School FAQsThis episode is an edited recording of the clubhouse meeting Kira Dineen and Dena Goldberg (Dena DNA) hosted on August 26th, 2021 in the “Genetic Counseling and the Future of Healthcare”. We explore making the most of the genetic counseling graduate school experience. Since this was recorded on Clubhouse, the audio is not as high quality as our other episodes. Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares gradu...2021-09-0300 min
DNA Today: A Genetics Podcast#154 Kenneth Kovan & David Berd on Haptenized VaccinesYou did it! DNA Today has been nominated for the Best 2021 Science and Medicine Podcast Award. If you nominated us, check your inbox to see if you were one of the people randomly selected to vote for the show! I was this year and received the email on August 9th. So pause the show now and check to see if you got the email. If you did please go ahead and vote for DNA Today, we need all the votes we can get to defend our title as the best Science and Medicine podcast! T...2021-08-2000 min
DNA Today: A Genetics Podcast#153 Dayan Goodenowe on DementiaDid you know genetic changes account for an estimated 10-15% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics just released Picture PD Aware, an at-home DNA kit that tests for changes in seven genes associated with Parkinson’s disease. Picture PD Aware is easy to order and understand with good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit over at picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to...2021-08-0600 min
DNA Today: A Genetics Podcast#152: Janice Berliner on Brooke’s PromiseIt’s time to defend our title as the Best 2020 Science and Medicine Podcast! The Podcast Awards Nominations are open! So we need you listeners to get DNA Today nominated at podcastawards.com. We were against very popular podcasts last year, and because of your support we won. To win again, we need all of you to nominate DNA Today in the Science & Medicine category at podcastawards.com by July 31st. If you share your nomination on social media and tag us, we will repost it and give you a shoutout on show! Thank you so much for all yo...2021-07-1600 min
DNA Today: A Genetics Podcast#144 Orion Buske on Genomic Digital ToolsThis episode of DNA Today continues our mini series about telehealth in genetics. Last episode we heard from the founder of Advanced Tele-Genetic Counseling, Elizabeth Turner, who shared her expertise in telehealth. Her company provides a scalable telehealth platform for genetic counseling services, where genetic counselors can help patients navigate through areas of genetics like genetic testing, and ultimately understand their own genetics. So if you want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach out through their website at at-gc.com, again that’s at-gc.com. 2021-03-2600 min
DNA Today: A Genetics Podcast#141 Stan Crooke on Ultra Rare Disease DrugsBiotech titan Dr. Stan Crooke joins host Kira Dineen to celebrate rare disease month! Dr. Crooke was the Founder of IONIS Pharmaceuticals, with extensive experience in the pharmaceutical industry developing more than 20 marketed drugs. He has published nearly 500 scientific publications, edited more than 20 books, and has numerous patents. Dr. Stan Crooke is now the Founder and CEO of n-Lorem Foundation, a new San Diego-based organization with an incredible mission of developing individualized RNA targeted medicines for patients with ultra-rare diseases, and providing those treatments for free, for life. These patients have extremely unique mutations a...2021-02-1900 min
DNA Today: A Genetics Podcast#127 DTC Series: Jeanette McCarthy on the IndustryLast chance to nominate DNA Today in the Podcast Awards for the best Science and Medicine. Please take a few minutes to support the show!This episode kicks off our Direct-To-Consumer (DTCs) Genetic Testing Series! Check out our previous episodes about DTCs including episode 116, 105, 91, 80, and 56.Over this brand new series, we are going to be interviewing a whole bunch of experts including authors Adam Rutherford and Libby Copeland about their new books exploring DTCs and we get to hear directly from companies like Fulgent Genetics, JScreen, and 23andMe. So...2020-07-1700 min
DNA Today: A Genetics Podcast#113 Lauren Winter on Dental GeneticsThis episode is part of the crossover series with other podcasts, today’s episode is a crossover with “Advancing Dentistry” also hosted by Kira Dineen. Lauren Winter joins host Kira Dineen on this episode exploring the genetics of dentistry. They are both genetic counseling graduate students, Lauren attends the University of Pittsburgh and Kira attends Sarah Lawrence College. Lauren is a Research Assistant involved in the COHRA2/COHRA Smile Projects at the Center for Craniofacial and Dental Genetics. Lauren and Kira discuss this project and dental genetics in general.On This Episod...2019-12-0634 min
DNA Today: A Genetics Podcast#97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We...2019-01-0434 min
DNA Today: A Genetics Podcast#91 Ellen Matloff on Direct-To-Consumer Genetic TestingEllen Matloff is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court. This decision has led to drastically lower prices of genetic...2018-10-0530 min