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: info@cdgcare.org 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.
