Andreas Schulze

Metabolic Diseases and Treatment

Working as a biochemist and pediatrician in the field of Inborn Errors of Metabolism for over 25 years, I’ve developed a deep interest to understand the biochemical and molecular basis of disorders related to the Creatine metabolism, the so-called Creatine Deficiency Syndromes. Also, while providing care for the very first patients, I realized the need to develop new treatment strategies for these ultra-rare conditions. Both, the more theoretical interest to understand the diseases and the practical aspect of designing treatments based on biochemical understanding, led me to establish a research group that is focused on

1.     Creatine Deficiency Syndromes,  
2.     Regulation of Creatine Synthesis,
3.     Pathophysiology of Guanidino Compounds (Creatine is one of them), and  
4.     Small Molecule Treatments.

Small molecule treatments can be applied to conditions like GAMT deficiency or Sanfilippo disease.  

GAMT is a Creatine Deficiency Disorder where the built-up of a toxic guanidino compound, guanidino acetate, causes pathology that can be addressed by inhibition of the enzyme upstream of the genetic block. This enzyme, Arginine:Glycine amidinotransferase (AGAT), is a very interesting target since it seems to play a crucial but yet not well understood role in the regulation of creatine synthesis, metabolic syndrome, lipid metabolism and stroke. Sanfilippo is a devastating Lysosomal Storage Disease where the pathological accumulation of heparan sulfate can be addressed via substrate reduction therapy. The target here is the enzyme N-deacetylase-sulfotransferase 1 (NDST1). 

For both conditions, GAMT and Sanfilippo, we have identified the potential targets and set up drug-discovery pipelines including high-content drug screening, in-silico screening, cell system validation and confirmation in animal models and patient cells. 

Appointments, Cross Affiliations, Memberships

Medical Director, Newborn Screening Program, Department of Paediatrics
Senior Associate Scientist Genetics & Genome Biology
Professor Department of Paediatrics
Chair, Provincial Newborn Screening Working Group: Metabolic Disorders
Chair, Faculty of Medicine Appointment Advisory Committee, University of Toronto
President, Garrod Association, Canada

Courses Taught

BCH374Y1 Research Project in Biochemistry

Awards and Distinctions

2015 — Student Choice Award. Arts & Science Co-op Programs - sciences category, University of Toronto Scarborough, Toronto, Ontario
2011 — Planters Tapestry Award for Cultural Competence. The New Immigrant Support Network, Hospital for Sick Children, Toronto, Ontario
2008 — The 2008 Interprofessional Practice Award in Paediatric Hospice Palliative Care. Hospital for Sick Children, Toronto, Ontario