GlycoCast, a journey of families, sugars and rare disorders

We interview Dr. Sahar Sabry, a regional pioneer in Egypt that is advancing CDG diagnosis and specialized medical management.

A podcast with our special guest Dr. Tracy Bedrosian from the Steven and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital where she heads the Bedrosian Lab Tracy has spent her career exploring how our brains develop and what happens when that process goes off track. Her research dives deep into genomics and a fascinating phenomenon called mosaicism that shapes b...

What happens when cutting-edge science meets the curiosity of a new generation? In this episode of Glycocast , we sit down with Dr. Tamas Kozics and Dr. Irena Muffels from the Icahn School at Mount Sinai to explore their personal stories with Congenital Disorders of Glycosylation (CDG) and how their research is uncovering new insights into these metabolic diseases. Together, they walk us through t...

Joining us today are two incredible guests: Brett Helsham , another mom navigating the world of rare diseases and a growing family, and Dr. Al Freedman ( https://www.rarecounseling.com ), a practicing child and family psychologist, advocate, and rare disease dad himself. Brett and Dr. Al bring valuable insights and personal stories about balancing family life, advocacy, and self-care. We’re thrill...

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 inf...

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 ch...

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 co...

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 congen...

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 i...

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, incl...

Will be talking with Ann and Steve Nguyen, sharing the touching story of their son, Emmett who was affected by PIGA-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. For more information on congenital disorders of glycosylation please visit...

Hosts Karen Morici and Dr. Ivan Martinez will talk to CDG mom Ashleigh Linthicum and Dr. Andrew Edmondson from the Children's Hospital of Philadelphia about the story of Ashleigh's daughter Alexa and PIGN-CDG a rare disorder that is part of their family journey. For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org .

Hosts Karen Morici and Dr. Ivan Martinez will talk to CDG mom Ashleigh Linthicum and Dr. Andrew Edmondson from the Children's Hospital of Philadelphia about the story of Ashleigh's daughter Alexa and PIGN-CDG a rare disorder that is part of their family journey. For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org.

Hello and welcome to GlycoCast, a journey of families, sugars and rare disorders. I'm your host, Dr. Ivan Martinez, and as always, I'm thrilled you've joined us. In today's episode, we have a truly inspiring guest, someone who has not just weathered a storm but has found a way to dance in the rain. Meet Karen Morici, a brave mother and co-host of this podcast, who's sharing an...