Alicia Chan

Medical Genetics Sign

Associate Professor

8-53 Medical Sciences Building
Office: 780.407.7333
Email: aliciac@ualberta.ca

Dr. Chan has a research interest in inherited metabolic disorders. Although these disorders are considered rare, the cumulative incidence is reported to be 1:1500-5000 live births. Many of these disorders are neurodegenerative or cause multiorgan dysfunction. Treatment for these disorders has evolved exponentially over the years. The metabolic research team has been involved in clinical research trials and registries for patients with lysosomal storage disorders including Fabry disease, Hunter syndrome, Gaucher disease, Pompe disease, Niemann Pick disease Type C, and Lysosomal Acid Lipase deficiency. The metabolic research team is also involved in a variety of national research studies including the Canadian research network (INFORM RARE) which evaluates new and existing therapies and makes recommendations to improve care for children with rare genetic diseases. The overall goal of the metabolic research team is to provide quality care for patients with inherited metabolic diseases so that they may live to their full potential.

Ambrose A, Bahl S, Sharma S, Zhang D, Hung C, Jain-Ghai S, Chan A, Mercimek-Andrews S. Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome. Orphanet J Rare Dis. 2024 Nov 12;19(1):424. doi: 10.1186/s13023-024-03437-x. PMID: 39533303

Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamak E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar CA, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK; INFORM RARE Network. Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Orphanet J Rare Dis. 2024 Oct 23;19(1):393. doi: 10.1186/s13023-024-03364-x.
PMID: 39443985  

Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S. Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Mol Genet Metab Rep. 2024 Jan 25;38:101055. doi: 10.1016/j.ymgmr.2024.101055. eCollection 2024 Mar. PMID: 38469090 

Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. PMID: 38216926

Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. PMID: 36994644

Lai V, Shahidi M, Chan A, Jain-Ghai S. First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.
Endocrinol Diabetes Metab Case Rep. 2023 Mar 29;2023(1):22-0413. doi: 10.1530/EDM-22-0413. PMID: 36988218 

Mainali A, Athey T, Bahl S, Hung C, Caluseriu O, Chan A, Eaton A, Ghai SJ, Kannu P, MacPherson M, Niederhoffer KY, Siriwardena K, Mercimek-Andrews S. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. Am J Med Genet A. 2023 Feb;191(2):510-517. doi: 10.1002/ajmg.a.63053. Epub 2022 Nov 19.
PMID: 36401557

Ambrose A, Sheehan M, Bahl S, Athey T, Ghai-Jain S, Chan A, Mercimek-Andrews S. Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic. Orphanet J Rare Dis. 2022 Sep 15;17(1):360. doi: 10.1186/s13023-022-02512-5. PMID: 36109795 

Williams I, Pandey S, Haller W, Huynh HQ, Chan A, Düeker G, Bettels R, Peyrin-Biroulet L, Dike CR, DeGeeter C, Smith D, Al Eisa N, Platt N, Marquardt T, Schwerd T, Platt FM, Uhlig HH. Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C. Wellcome Open Res. 2022 Jan 11;7:11. doi: 10.12688/wellcomeopenres.16986.1. eCollection 2022.
PMID: 35694196 

Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J, Chan A, Cohen E, Dyack S, Gillis LJ, Goobie S, Graham ID, Greenberg CR, Grimshaw JM, Hayeems RZ, Jain-Ghai S, Jolly A, Khangura S, MacKenzie JJ, Major N, Mitchell JJ, Nicholls SG, Pender A, Potter M, Prasad C, Prosser LA, Schulze A, Siriwardena K, Sparkes R, Speechley K, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, van Karnebeek C, Walia JS, Wilson BJ, Wilson K, Potter BK. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study. BMJ Open. 2022 Feb 22;12(2):e055664. doi: 10.1136/bmjopen-2021-055664. PMID: 35193919 

Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Wyatt A, Campeau PM, Chan A, Chakraborty P, El Turk F, Mamak E, Mhanni A, Skidmore B, Sparkes R, Stockler S, Potter BK; INFORM RARE Network. Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys. Trials. 2021 Dec 9;22(1):893. doi: 10.1186/s13063-021-05893-3. PMID: 34886877 

Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Wyatt A, Campeau PM, Chan A, Chakraborty P, El Turk F, Mamak E, Mhanni A, Skidmore B, Sparkes R, Stockler S, Potter BK; INFORM RARE Network. Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.Trials. 2021 Nov 17;22(1):816. doi: 10.1186/s13063-021-05791-8.
PMID: 34789302

Istaiti M, Revel-Vilk S, Becker-Cohen M, Dinur T, Ramaswami U, Castillo-Garcia D, Ceron-Rodriguez M, Chan A, Rodic P, Tincheva RS, Al-Hertani W, Lee BH, Yang CF, Kiec-Wilk B, Fiumara A, Rubio B, Zimran A. Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data. Am J Hematol. 2021 May 1;96(5):545-551. doi: 10.1002/ajh.26131. Epub 2021 Mar 11. PMID: 33606887

Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network. Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z. PMID: 32276663; PMCID: PMC7149838.

Jain-Ghai S, Joffe AR, Bond GY, Siriwardena K, Chan A, Yap JYK, Hajihosseini M, Dinu IA, Acton BV, Robertson CMT; Western Canadian Complex Pediatric Therapies Follow‐up Group. Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study. JIMD Rep. 2020 Jan 27;52(1):43-54. doi: 10.1002/jmd2.12095. eCollection 2020 Mar. PMID: 32154059