GlycoCAST, a journey of families, sugars and rare disorders

Episode Description

What happens when parents facing an ultra-rare diagnosis decide to help drive the research needed to find answers?

In this episode of GlycoCAST, we welcome Dr. Manuzah Tabassum and Dr. Matthew Sherratt, parents of three young adults—Zakki, Sami, and Yasmin—living with ALG2-CDG, an ultra-rare Congenital Disorder of Glycosylation.

Their journey has evolved from navigating the uncertainties of diagnosis and daily life to becoming active advocates for scientific research. Through connections with CDG CARE, international researchers, clinicians, and other families, they are helping build the ALG2-CDG Research Initiative, an effort to advance disease understanding, develop research models, and explore potential therapeutic approaches.

Their story illustrates how families can become powerful partners in research, bringing together lived experience, scientific curiosity, and international collaboration.

• The family's journey toward an ALG2-CDG diagnosis.
• Navigating life with three children affected by an ultra-rare disorder.
• Finding community, information, and support through CDG CARE.
• Moving from patient advocacy to actively supporting scientific research.
• Building international collaborations around ALG2-CDG.
• The importance of disease models and translational research.
• The role of families in shaping research priorities and accelerating progress.

About GlycoCAST

GlycoCAST is a podcast from CDG CARE bringing together families, researchers, clinicians, and advocates to explore Congenital Disorders of Glycosylation (CDGs), rare diseases, and the science of glycosylation—the biological processes through which sugars contribute to the function of cells and proteins.

Through personal stories and scientific conversations, GlycoCAST connects lived experience with research and the pursuit of better treatments.

if you want to connect to our guests or know more on ALG2 research please email: [email protected]

Glossary

ALG2: ALG2 Enzyme (Alpha-1,3/1,6-Mannosyltransferase): An enzyme involved in glycosylation, the process by which sugar molecules are assembled and attached to proteins. ALG2 helps build an essential sugar structure needed for the proper formation of N-linked glycans, which support protein folding, stability, and function.

Changes in the ALG2 gene can reduce the enzyme's activity, disrupting glycosylation and causing ALG2-CDG, a rare inherited disorder that primarily affects the nervous system and muscles.

Knock-in Mouse Model: A genetically engineered mouse in which a specific DNA sequence or genetic variant is introduced into a particular location in the genome. Researchers use these models to reproduce disease-associated mutations, understand how they affect biological processes, and investigate potential treatments.

In rare disease research, including Congenital Disorders of Glycosylation (CDGs), knock-in mouse models can help scientists study how a patient's genetic variant contributes to disease and evaluate potential therapeutic strategies.

Zebrafish Models: Zebrafish (Danio rerio) are small freshwater fish widely used in biomedical research to study human diseases. Scientists can modify their genes to reproduce genetic disorders and investigate how mutations affect growth, development, and organ function.

In rare disease research, including Congenital Disorders of Glycosylation (CDGs), zebrafish models help researchers understand disease mechanisms and screen potential treatments. Their rapid development, transparent embryos, and genetic similarities to humans make them particularly valuable for studying neurological and developmental 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 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

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

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 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!