Partnership Opportunities

Improving Outcomes of Congenital Disorders of Glycosylation

Discovering genes, biomarkers, and the natural history of rare, single-gene genetic diseases

Technology Overview

Lam ChristinaDr. Christina LamDr. Lam is determining the course and causes of congenital disorders of glycosylation (CDGs), a group of rare childhood diseases that was first described in 1980. Children with these conditions show a range of clinical features including developmental delay, bleeding problems, and heart defects. Before molecular methods such as genome sequencing led to the identification of CDGs, children with these disorders were diagnosed with more general conditions such as seizure disorder or cerebral palsy.

CDGs are caused by mutations in genes involved in glycosylation. Glycosylation is the process in which sugar structures are made, added to, and modified on proteins and lipids, which are the functional and structural components of cells. Because many proteins and lipids are glycosylated, the inability to add, alter, or remove these modifications has wide-ranging effects on many organs of the body including the heart, liver, blood and brain.

Dr. Lam and collaborators continue to identify new gene variants responsible for CDGs. They characterize the disease in children with these novel variants, including their physiology and symptoms and the molecular features of their glycosylated biomarkers. Potential applications of this work include development of tests for genetic screening and diagnosis and advancement of biomarker-based assays for disease monitoring and response to therapy. A better understanding of CDGs could also lead to improved diagnosis and treatment of other, more common childhood diseases in which aberrant glycosylation contributes to the pathophysiology.

Because the underdiagnosed orphan CDGs are so rare, advances in diagnosis, treatment, and disease management depend on extensive collaboration to gather and share data and findings. With the National Human Genome Research Institute of the National Institutes of Health, Dr. Lam is establishing a clinical database of information on CDG patients. She is the lead Seattle Children's investigator for a national clinical trial that is collecting patient- and clinician-reported data on disease symptoms and diet as well as blood, urine, and stool samples. The goals are to use the longitudinal data and biobank samples to comprehensively describe the natural history of CDGs and ultimately, develop accurate diagnoses and therapies that are meaningful to patients and their families.

Dr. Lam is one of the few physicians in the United States with expertise on the clinical and genetic aspects of CDGs, knowledge of CDG databases, and close connections to patients and their families. She collaborated on international guidelines for evaluating an individual patient's multiorgan effects from the most common CDG and developing a recommended multidisciplinary management approach.

Dr. Lam is interested in partnerships to plan and conduct clinical studies on biomarkers, therapies, and management strategies for CDGs.

Stage of Development

  • Clinical trial development

Partnering Opportunities

  • Collaborative research & development opportunity
  • Sponsored research agreement
  • Consultation agreement
  • Clinical data access
  • Clinical trials


  1. Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A…Lam C. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis. 2021;44(4):987-1000.
  2. Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, et al. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. Orphanet J Rare Dis. 202125;16(1):102.
  3. Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D…Lam C. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Am J Med Genet A. 2021;185(1):213-218.
  4. Chang IJ, Byers HM, Ng BG, Merritt JL 2nd, Gilmore R, Shrimal S…Lam C. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2019;42(2):325-332.
  5. Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D…Lam C, et al. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019;42(1):5-28.
  6. Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, et al. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018;124(1):82-86.
  7. Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, et al.Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationGenet Med. 2017;19(2):160-168.

Learn More

To learn more about partnering with Seattle Children’s Research Institute on this or other projects, email the Office of Science-Industry Partnerships