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Provider / Researcher Series
Dr. Kristin Baranano is a pediatric neurologist and neurogeneticist at Johns Hopkins University. In this episode, Dr. Baranano discusses CACNA1A-related disorders—rare neurological conditions that affect children and adults across a complex spectrum of symptoms including ataxia, epilepsy, developmental delays, and more. Dr. Baranano shares her clinical journey, from her early research in developmental neuroscience to her current work treating and supporting families facing these challenging diagnoses.
EP(P/R)23: Dr. Kristin Baranano: Understanding CACNA1A
Caregiver Series
Janet Vasquez is the devoted mother of two daughters diagnosed with FAM177A1, a rare neurodevelopmental disorder. Janet opens up about her family's journey—from the early signs and missed diagnoses to navigating daily life, advocacy, and the emotional toll of feeling isolated. She shares powerful insights on the importance of trusting your instincts as a parent, fighting for answers, and finding community through rare disease networks.
EP(C)22: Janet Vasquez on FAM177A1, Resilience, and Finding Strength Through Motherhood
Researcher Series
Dr. Fikri Birey is a neuroscientist, stem cell researcher, and Assistant Professor at Emory University. His groundbreaking work is advancing the understanding and treatment of rare neurological disorders, including Timothy Syndrome and CACNA1A-related disorders. In this episode, Dr. Birey shares his cutting edge approaches to disease research and the critical role of advocacy organizations in enabling discovery.
EP(R)21: Dr. Fikri Birey, Pioneering Research for Rare Disorders
Provider / Caregiver Series
Dr. Deb Ondrasik is a pediatrician, rare disease advocate, and mother to a daughter living with CACNA1A-related epileptic encephalopathy. In this episode, Dr. Ondrasik shares her extraordinary journey navigating life as both a healthcare provider and caregiver, and how her daughter’s diagnosis propelled her into advocacy. From the challenges of early developmental delays to the transformative power of genetic testing, Dr. Ondrasik offers insight into the barriers families face—and how we can build a more responsive, compassionate system.
EP(P/C)20: Dr. Deb Ondrasik on CACNA1A, Advocacy, and Hope
Researcher Series
Dr. Nicole Legro is a physician and researcher currently in her third-year as an OB/GYN resident at Georgetown University. In this episode, Dr. Legro reflects on the long and winding path that led to her groundbreaking work helping to define FAM177A1-related disorder, the future of maternal-fetal medicine, the growing role of AI in genetic diagnostics, and the deep human connections that drive her work forward.
EP(R)19: Dr. Nicole Legro & FAM177A1-associated Disorders
Researcher Series
Dr. Clement Chow is an Associate Professor of Human Genetics at the University of Utah School of Medicine. Dr. Chow and his team are doing groundbreaking work in rare disease research using an unexpected but powerful model: the fruit fly. Dr. Chow shares his lab's recent efforts in using this model organism to identify existing drugs that may be treatments for FAM177A1 deficiency, a rare neurodevelopmental disorder.
EP(R)18: Dr. Clement Chow, Fruit Flies, & FAM177A1-associated Disorders
Researcher / Provider Series
Dr. Saquib Lakhani is the Director of the Early Detection Program at Cedars-Sinai Guerin Children’s and a leading pediatric critical care physician. Dr. Lakhani shares how a single ICU case launched a global collaboration that uncovered the link between CRELD1 and a new spectrum of rare genetic disorders involving seizures, developmental delay, and cardiac irregularities.
EP(R/P)17: Dr. Saquib Lakhani, Rare Epilepsies, & CRELD1-associated Disorders
Researcher Series
Dr. Felix Chan is an Assistant Professor of Pharmacology at the University of Birmingham and a leading voice in rare epilepsy research. Dr. Chan shares his remarkable journey from Indonesia to the U.K. and U.S., and how a life-changing encounter with a patient during his Ph.D. sparked his mission to better understand the devastating impact of rare epilepsies like CRELD1.
EP(R)16: Dr. Felix Chan, Rare Epilepsies, & CRELD1-associated Disorders
Caregiver Series
Dana Brenner, a passionate advocate, parent, and community leader, shares her extraordinary journey navigating the complex world of rare disease diagnosis for her son Ray — a journey that spanned nearly a decade before discovering the cause: a newly identified mutation in the CRELD1 gene.
EP(C)15: Dana Brenner & CRELD1-associated Disorders
Founder Series
Jonathan Vargas is co-founder of Juju and Friends: The CLN2 Warrior Foundation. Jonathan shares his family's emotional journey after his son, Juju, was diagnosed with CLN2 Batten disease—a rare, neurodegenerative condition.
EP(F)14: Jonathan Vargas & Juju & Friends, The CLN2 Warrior Foundation
Caregiver Series
Maura McNamara, a devoted mother, healthcare professional, and now author, shares her family’s emotional journey with Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS)—a diagnostic odyssey that began when her daughter Ellery was just two and a half years old. Maura eventually channeled that experience into a beautiful children’s book, Ellery the Brave Celery, written to help others better understand the OMAS journey in a way that is accessible to both kids and adults.
EP(C)13: Maura McNamara, OMAS Advocate & Caregiver
Provider Series
Dr. Lim, a pediatric neurologist at Evelina London Children’s Hospital, shares his insights into the challenges of diagnosing OMAS, the role of neuroblastoma in disease progression, and treatment strategies. We explore the importance of early intervention, the impact of immunotherapy, and how international collaboration is driving better outcomes for patients worldwide.
EP(PR)12: Ming Lim, MD, OMAS Provider
Caregiver Series
Bhavna Sivanand Dias, Executive Director of the UCLA Center for Impact and OMAS advocate, shares her family's rare disease journey. Beyond providing a window into the challenges faced by families in the rare community, her experience offers hope for those fighting OMAS.
EP(C)11: Bhavna Sivanand Dias, OMAS Advocate & Caregiver
Founder Series
Rachel Heilmann is Co-Founder and President of The Rory Belle Foundation, an organization created to advance understanding and treatment of NARS1-associated disorders. In this episode of Rare Awareness Radio, Rachel shares her deeply personal journey from a career in clinical pharmacy to becoming a fierce advocate for families affected by ultra-rare diseases.
EP(F)10: Rachel Heilmann and The Rory Belle Foundation
Founder Series
Sunitha Malepati, a caregiver, lawyer, and former professor at Georgetown Law School, is vice president of the CACNA1A Foundation and founder of The Buffalo Initiative. In a recent episode of Rare Awareness Radio, she shared her journey in rare disease advocacy, starting with her daughter’s diagnosis with a CACNA1A gene mutation and leading to her much broader effort to bridge the gap in the development of treatments for rare diseases.
EP(F)9: Sunitha Malepati, The CACNA1A Foundation, and The Buffalo Initiative
Founder Series
Yiwei She is the founder of the TNPO2 Foundation. A mathematician and AI professional who became a rare disease advocate when her son, Leo, was diagnosed with an ultra-rare genetic condition. Her foundation and Project Baby Lion are dedicated to advancing precision medicine and improving early genetic diagnoses for children with rare diseases.
EP(F)8: Yiwei She, TNPO2 Foundation and Project Baby Lion
Caregiver Series
Chanin Zaragoza and her son Zeke share their experiences overcoming Zeke's OMAS diagnosis at 36 months old. Zeke endured a challenging four-year period marked by aggressive, painful therapies, physical, and occupational treatments. By the age of seven, he achieved remission and had remastered the motor functions lost abruptly as a toddler.
EP(C)7: Chanin & Zeke Zaragoza & Their OMAS Journey
Founder Series
Adam Clatworthy is a co-founder of CRELD1 Warriors, a UK-based charity supporting families affected by the ultra-rare genetic condition CRELD1. In this episode, Adam shares his deeply personal journey navigating his children's diagnoses, building a global community, and advocating for awareness and research. Learn how one family's determination creates a lifeline for others in the rare disease community. For more information, please visit https://www.creld1.com/
EP(F)6: Adam Clatworthy & Creld1 Warriors
Founder Series
Kate Vinokurov is the founder of Cure OTCD, a nonprofit organization dedicated to finding a cure for ornithine transcarbamylase deficiency (OTCD), a rare urea cycle disorder. Kate’s journey began when her son, Etan, was diagnosed with this life-altering condition shortly after birth. Determined to improve his quality of life and that of others affected by OTCD, Kate transformed her personal challenges into a mission to drive change. Through CureOTCD, Kate focuses on advancing critical research, raising awareness, and fostering patient advocacy. To learn more, please visit cureotcd.com.
EP(F)5: Kate Vinokurov & CureOTCD
Founder Series
Jill Hawkins is founder and president of The FAM177A1 Research Fund, a nonprofit organization created to accelerate the development of treatments for the nano-rare genetic disease FAM177A1 disorder, that affects two of her children. Jill oversees the fund's operations, fundraising, and partnerships, working with researchers, clinicians, biotech companies, and other rare disease stakeholders. She also shares her family's journey and raises awareness about FAM177A1 Disorder through various podcasts, panels, and publications. To learn more, please visit https://www.curefam.org.
EP(F)4: Jill Hawkins & The FAM177A1 Research Fund
Founder Series
Carolina Sommer is the CEO and founder of the Born A Hero Research Foundation and co-founder of the Northwest Rare Disease Coalition. A dedicated advocate, author, and lobbyist, Carolina’s journey in the rare disease community began with her daughter’s diagnosis of Pfeiffer syndrome. She has since become a leading voice for rare disease awareness, passionately working to support families and drive forward meaningful change through community-focused initiatives, patient-led research, and policy advocacy. For additional information, please visit bornahero.org.
EP(F)3: Carolina Sommer & The Born a Hero Foundation
Founder Series
Jeffrey T. Kramer, M.S. created the Chondrosarcoma Foundation to honor his daughter Shayna Kramer’s legacy. He combines his 24 years experience in substance abuse counseling, communication, and marketing with his experience in broadcasting to produce film and videos. In addition, Jeffrey has been a certified Emergency Medical Technician and a Volunteer Firefighter for the Prince George’s County Fire Department. Mr. Kramer operates his own multimedia production company called Kramer Communications. For more information, please visit csfshayna.org.
EP(F)2: Jeff Kramer & The Chondrosarcoma Foundation
Founder Series
Mike Michaelis, founder and president of The OMSLife Foundation, established the organization in 2009 after his granddaughter's OMS diagnosis. The foundation aims to support patients and caregivers, raise OMS awareness, and fund research. Their OMS Patient Reported Natural History Study, developed in collaboration with NORD and funded by the FDA, currently has nearly 400 registrants. Mike is dedicated to connecting patients with top care providers and has expressed gratitude for interacting with numerous OMS patients, families, specialists, and researchers globally. For more information, visit omslifefoundation.org.
EP(F)1: Michael Michaelis & The OMSLife Foundation