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 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.