10 episodes
GlycoCast, a journey of families, sugars and rare disorders Ivan Martinez Duncker
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- Health & Fitness
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5.0 • 2 Ratings
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Welcome to GlycoCast, the podcast where the sweet science of sugars meets the mysteries of medicine, and our shared humanity comes to life. We will focus on a journey of families, sugars and rare disorders called Congenital Disorders of Glycosylation. We'll bring you tales of struggle and perseverance, as we speak to families affected by CDGs, learn about their experiences, their challenges, and their achievements. We'll hear from the researchers on the front lines, unearthing the mysteries of CDGs, and the healthcare professionals who play a key role in managing these disorders.
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CDGCare: a story of family, advocacy and awareness
Join Karen Morici and Dr. Ivan Martinez Duncker in this interview with Andrea Miller, Founder and President of the non-profit organization CDGCare, a wonderful network that has been shaping the CDG family community into an evolving entity that has greatly helped the life of hundreds of families with children affected by rare disorders called CDG (Congenital Disorders of Glycosylation)
For more information: https://cdgcare.org/ -
GMPPA-CDG: A Cure Odyssey
Join hosts Karen Morici and Dr. Ivan Martinez Duncker as they welcome Diana Roetting, a dedicated mom on a mission to find a treatment for her daughter Rosie with GMPPA-CDG, and Kristin Kantautas PhD, a pillar in the CDG community and leader at Perlara, CDG Canada, and FCDGC. It will be a valuable lesson for families navigating through the odissey of finding drugs that improve the life of their children. For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org.
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Aussie Louis and the Science of CDG Biomarkers
Hosts Karen Morici and Dr. Ivan Martinez will talk to Australian CDG parents Amy and Michael about the story of their son Louis affected by a rare disease called ALG1-CDG. We will also talk with Dr. Miao He, co-director of the Metabolic and Advanced Diagnostics at Children's Hospital of Philadelphia on the utility of biomarkers in the diagnosis and treatment of CDGs. For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org.
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Trailer - Aussie Louis and the Science of CDG Biomarkers
Hosts Karen Morici and Dr. Ivan Martinez will talk to Australian CDG parents Amy and Michael about the story of their son Louis affected by a rare disease called ALG1-CDG. We will also talk with Dr. Miao He, co-director of the Metabolic and Advanced Diagnostics at Children's Hospital of Philadelphia on the utility of biomarkers in the diagnosis and treatment of CDGs. For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org.
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Diagnostic challenges of rare disorders in Latin America
Hosts Karen Morici and Dr. Ivan Martinez Duncker will talk about the challenges of diagnosing rare diseases in Latin America with geneticist/genomicist researcher Dr. Claudia Gonzaga-Jauregui, President of the initiative for rare diseases in the Caribbean and Latin America and Dr. Melania Abreu a clinical geneticist and founding partner of Genos, a private genetics laboratory in Mexico.
For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org. Please leve us a review! -
Fly-ing Insights: Unraveling Rare Disorders with Tiny Wings
We had an insightful conversation with Ann and Steve Nguyen, sharing the touching story of their son Emmett who was affected by PIGA-CDG a type of Congenital Disorder of Glycosylation (CDG). Will understand how Emmett's legacy continues to inspire and bring hope to many. We will also have Dr. Clement Chow whose cutting-edge research is unraveling the mysteries of different rare disorders, including PIGA-CDG. For more information on CDGs please visit our sponsor at cdgcare.org.