2024 Cobalamin G Research Grant

Aminoglycosides for the Treatment of Inborn Errors of Vitamin B12 Metabolism

Principal Investigator: Dr. Brian Gilfix

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February 29, 2024

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HCU Network America announced the recipient of their first Cobalamin G research grant, awarding the Research Institute of the McGill University Health Centere, to identify potential treatment for Cobalamin G (CblG) deficiency. The research, led by Dr. Brian Gilfix, aims to identify the use of a specific antibiotic to allow full expression of the protein in patients with stop codon mutations. Dr. Gilfix is an Associate Professor in the Department of Medicine and Division of Experimental Medicine. He is also the program director for residency training in Medical Biochemistry at the McGill University Health Centre.  


According to the principal investigator, Dr. Brian Gilfix, the project aims to pilot a new strategy for treating cblG disorder and other inborn errors of cobalamin metabolism due to stop mutations for which treatments are currently limited. It is known that aminoglycoside antibiotics allow the cell to overcome the stop codons by allowing the insertion of a random amino acid and thereby expressing a full-length protein. It is our intention to demonstrate that in the culture cells, we can restore at least partially cblG function and demonstrate an alternative means of treating cblG disorders.  

Board and Cobalamin Steering Committee member Dana Hunt said:” Words cannot begin to describe how thrilled we are to finally be able to fund this potentially lifesaving research grant. Carson and others continue to defy the odds but are in desperate need of new medical treatments to manage this rare disorder. We are beyond grateful for the support of our families, friends, and the entire HCU community.” 

Cobalamin Steering Committee Lead and Board member for HCU Network America, Brittany Parke said “It is an exciting day for our community to be able to help fund an incredible project for such a rare disorder. The implications to improve the quality of life for cblG patients are incredible. I am honored to have been a part of the process of extending this grant to Dr. Gilfix. Finally, all our hard work is beginning to come together to improve the future for those we love with this disorder.”  

HCU Network America thanks their community of supporters whose contributions made this grant possible. 

About Brian Gilix, MDCM, PhD, FRCPC, DABCC, FAACC

Dr. Gilfix is currently an Associate Professor in the Department of Medicine at the McGill University Health Centre (Montreal, Canada) where he has been on staff since 1993. His professional training has taken place at several locations: the U. of Manitoba (BSc Honours, Microbiology), the U. of Western Ontario (PhD, Biochemistry), Harvard Medical School (MRC Post-Doctoral Fellowship), and McGill U. (MDCM and Specialty training in Medical Biochemistry).

Dr. Gilfix’s clinical activities are centred on selected inherited disorders (homocystinuria, porphyria, alpha1-antitrypsin deficiency, lipid disorders).

His research focuses on alpha1-antitrypsin, cysteine and homocysteine metabolism, and vitamin B12 metabolism.

He is McGill Program Director for Training in Medical Biochemistry and current Past President of the Canadian Association of Medical Biochemists.

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