Jeffrey Whitsett, MD - phaware® interview 561
I'm Aware That I'm Rare: the phaware® podcast
Cracking the Code: How Genetics Is Rewriting Neonatal Medicine Dr. Jeffrey Whitsett reflects on five decades in neonatal care, tracing the evolution from limited support for preemies to today’s cutting-edge genetic discoveries. Discover how rare gene mutations like TBX4 are reshaping our understanding of lung development and why collaboration with families is key to the next era of life-saving treatments. I’m Jeffrey Whitsett. I’m a neonatologist at Children’s Hospital Medical Center. I am the Director of the Perinatal Institute. I’ve been there 50 years, taking care of newborns...
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Episode 561 - Jeffrey Whitsett, MD
I'm Aware That I'm Rare: the phaware® podcast
Cracking the Code: How Genetics Is Rewriting Neonatal Medicine Dr. Jeffrey Whitsett reflects on five decades in neonatal care, tracing the evolution from limited support for preemies to today’s cutting-edge genetic discoveries. Discover how rare gene mutations like TBX4 are reshaping our understanding of lung development and why collaboration with families is key to the next era of life-saving treatments. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware #phawareMD Share your story: Like, Subscribe and Follow us: ...
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Luke Stockdale - phaware® interview 560
I'm Aware That I'm Rare: the phaware® podcast
From Knee Pain to Gene Discovery: One Family’s Unexpected Diagnosis What started as routine investigations into hereditary knee problems turned into a life-altering discovery for Luke Stockdale and his family — a TBX4 gene mutation linked to pulmonary arterial hypertension (PAH). In this episode, Luke shares how his mother’s journey through years of respiratory care led to a rare diagnosis, and how it’s changed the course of his entire family’s future. With candor and urgency, he discusses the emotional weight of genetic testing, the inconsistencies in clinical care, and his...
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Episode 560 - Luke Stockdale
I'm Aware That I'm Rare: the phaware® podcast
From Knee Pain to Gene Discovery: One Family’s Unexpected Diagnosis What started as routine investigations into hereditary knee problems turned into a life-altering discovery for Luke Stockdale and his family — a TBX4 gene mutation linked to pulmonary arterial hypertension (PAH). In this episode, Luke shares how his mother’s journey through years of respiratory care led to a rare diagnosis, and how it’s changed the course of his entire family’s future. With candor and urgency, he discusses the emotional weight of genetic testing, the inconsistencies in clinical care, and his...
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Drs. Matina Prapa and Olivier Danhaive - phaware® interview 559
I'm Aware That I'm Rare: the phaware® podcast
How a Global Team Is Rewriting the TBX4 Playbook Rare diseases thrive in isolation. TBX4Life is changing that. In this episode, Drs. Prapa and Danhaive share how international collaboration is creating real-time change for patients. From newborn screening to natural history studies to rethinking how we talk about genetic testing, they’re helping create a roadmap to a cure. Matina Prapa, MD, PhD: Hi, my name is Martina Prapa. I’m a clinical geneticist. I work in London, at few centers, St. George’s and Royal Brompton Hospital. I’ve been a geneticist for three years now as a...
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Episode 559 - Drs. Matina Prapa and Olivier Danhaive
I'm Aware That I'm Rare: the phaware® podcast
How a Global Team Is Rewriting the TBX4 Playbook Rare diseases thrive in isolation. TBX4Life is changing that. In this episode, Drs. Prapa and Danhaive share how international collaboration is creating real-time change for patients. From newborn screening to natural history studies to rethinking how we talk about genetic testing, they’re helping create a roadmap to a cure. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware #phawareMD Share your story: Like, Subscribe and Follow us: .
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Anton Morkin - phaware® interview 558
I'm Aware That I'm Rare: the phaware® podcast
One Dad’s Mission to Cure His Son’s Genetic Disease When Anton Morkin’s son was diagnosed with “idiopathic” pulmonary hypertension, he refused to accept “no known cause” as an answer. What followed was a crash course in genetics, the discovery of a rare mutation, and the formation of a worldwide coalition, . My name is Anton Morkin. I am from Germany. In 2020, my son was diagnosed with severe pulmonary hypertension. We were just rushed into many new things for us. People were saying your child will die probably in the next week or month. They did not know how long he’d...
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Episode 558 - Anton Morkin
I'm Aware That I'm Rare: the phaware® podcast
One Dad’s Mission to Cure His Son’s Genetic Disease When Anton Morkin’s son was diagnosed with “idiopathic” pulmonary hypertension, he refused to accept “no known cause” as an answer. What followed was a crash course in genetics, the discovery of a rare mutation, and the formation of a worldwide coalition, . Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware Share your story: Like, Subscribe and Follow us: .
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Gaurav Choudhary, MD - phaware® interview 557
I'm Aware That I'm Rare: the phaware® podcast
How an AI Stethoscope Could Transform Global Healthcare What if diagnosing PH didn’t require an echo or heart catheterization—but just a AI powered stethoscope? Dr. Gaurav Choudhary talks real-world use cases, validation studies, and the global potential of portable, AI-powered diagnostics in under-resourced settings. My name is Gaurav Choudhary. I'm a cardiologist. I'm in Providence, Rhode Island. I'm a Professor of Medicine at Brown University, Alpert Medical School of Brown University. As well as I'm the Director of Cardiovascular Research at Brown University Health. I got...
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Episode 557 - Gaurav Choudhary, MD
I'm Aware That I'm Rare: the phaware® podcast
How an AI Stethoscope Could Transform Global Healthcare What if diagnosing PH didn’t require an echo or heart catheterization—but just a AI powered stethoscope? Dr. Gaurav Choudhary talks real-world use cases, validation studies, and the global potential of portable, AI-powered diagnostics in under-resourced settings. Learn more about pulmonary hypertension trials at . Follow us on social @phaware Engage for a cure: #phaware #phawareMD Share your story:
info_outline You Can Grieve and Still Fight: Love, Loss, and Living with PAH
She cried for the life she lost. Then, she fought for the one she has. PAH patient, Jasmine Wells discusses what it really means to grieve the old you while finding purpose in the new. From navigating relationships, infections, and fear of transplant, to leading support groups and fighting misinformation.
Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
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