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 LabTracy 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 brain development, influence conditions like epilepsy, and even intersects with rare genetic disorders like Congenital Disorders of Glycosylation (CDGs).In today’s conversation, we’ll unpack how her lab studies mosaic genetic variation and why this matters for understanding neurological complications of CDGs — especially SLC35A2-CDG, where cells struggle to transport UDP-galactose into the Golgi, the cellular factory where sugar chains, or glycans, are built.This episode is made possible through the support of CDG CARE, a nonprofit  organization founded by parents seeking information and support for CDGs.

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 their latest work, sharing how using huge amounts of biological data through advanced multi-omics approaches is untangling the complexity of CDGs and unraveling potential common treatments.This episode is not just about science—it’s about mentorship, collaboration, and the passion that drives researchers to keep moving forward, hand-in-hand with families, toward answers.The link to the science article: https://pubmed.ncbi.nlm.nih.gov/40743674/A family-friendly comprehensive summary will be avaiable soon at cdgcare.org

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 thrilled to share their perspectives on returning to our passions, even as life grows more complex. In this episode we will explore the intersection of family, personal growth, and the complex realities of living with rare disorders when your family grows. Together we will share experiences and advice on managing the challenges and rewards of balancing parenthood and self-care in the context of rare diseases, particularly when you are managing the arrival of a new family member where joy but frequently chaos meet face to face.

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/

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.

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.

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.

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!

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.

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 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.

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 intimate look into her life. Karen's world took an unexpected turn when her child, Dominic, was diagnosed with PMM2-CDG, a rare genetic disorder where the synthesis of glycans, sugar blocks essential for life, is disrupted. Today, Karen who is co-host of this podcast will be sharing her experiences from receiving Dominic's diagnosis to managing day-to-day life, the highs and lows, the struggles and victories. Her story is a testament to the strength of the human spirit and a mother's unwavering love. For more information on congenital disorders of glycosylation please visit our sponsor at cdgcare.org.