Tony Rupar

Genetics & Development Dr. Tony Rupar


Scientist, Division of Genetics & Development, Children’s Health Research Institute
Associate Professor, Departments of Biochemistry and Paediatrics, Schulich School of Medicine & Dentistry, Western University
Chair, Division of Clinical Biochemistry, Department of Biochemistry, Western University
Director, Biochemical Genetics Laboratory, London Health Sciences Centre

How my research helps children

I am interested in the diagnosis, characterization and treatment of pediatric metabolic genetic diseases. Many of these diseases are very rare and studying the diseases requires working with other researchers and clinicians in Canada and other countries.  Specific projects include studying genetic diseases in local Amish and Mennonite populations.  Recently, in collaboration with Drs. Robert Hegele of Robarts Research Institute, Victoria Siu and others, we have identified a new genetic disorder, ECO syndrome (endocrine-cerebro-osteodysplasia) and the gene in which the mutations that cause the disorder are located.  Infants born with ECO syndrome have multiple congenital anomalies and die soon after birth.  There are other ongoing projects that are characterizing novel disorders and the underlying genetic causes.

There are no effective treatments for many genetic disorders.  Metachromatic leukodystrophy (MLD) is a progressive, neurodegenerative autosomal recessively inherited lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A.  MLD commonly presents in the late infantile age range with death occurring by about 5 to 7 years of age.  Our research uses a mouse model to understand the disease process and develop treatments based on replacing arylsulfatase A by enzyme replacement therapy and gene therapy.  Our objective is that this approach will lead to a clinically useful treatment for MLD and other neurodegenerative disorders.  For these treatments to be successful, early diagnosis is most likely to be necessary.

I have had a particular interest in newborn screening for genetic metabolic diseases and am a member of Ontario Advisory Committee on Newborn and Childhood Screening that advises the Ontario Ministry of Health and Longterm care.  Screening all babies shortly after birth for certain genetic metabolic diseases and instituting appropriate and timely treatment to affected babies is effective in minimizing the consequences of many diseases.


Research Team

Currently the research team consists of Dr. Jiahui Liu, Dr. Bruce Gordon, Cathy Regan.  In addition the staff of the Biochemical Genetics diagnostic service, a scientist and five technologists contribute to research and development activities.

Awards & Grants

Awards & Grants

Funding in support of Research toward a Treatment for Metachromatic Leukodystrophy – Awarded by Bethanys Hope Research Foundation

Funding in support of Finding of Rare Disease Genes in Canada (FORGE Canada) as members of Canadian Pediatric Genetic Disease sequencing consortium – Awarded by Canadian Institute of Health Research (CIHR) and Genome Canada

Recent Publications


Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N
J Inherit Metab Dis. 2013 Dec 5

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency
Farhan S, Wang J, Robinson J, Lahiry P, Siu V, Prasad C, Kronick J, Ramsay D, Rupar C, Hegele R
Molecular Genetics and Genomic medicine 2013

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America
Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM
Am J Med Genet. 2012

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening
Prasad C, Speechley KN, Dyak S, Rupar CA, Chakraborty P, Kronick JB
Paediatrics and Child Health. 2012; 17:185-189

Transcobalamin (TC) deficiency and newborn screening. Letter to the editor
Prasad C, Cairney AE, Rosenblatt DS, Rupar CA
J Inherit Metab Dis. 2011; DOI 10.1007/s10545-011-9431-4

Coma, hyperammonemia, metabolic acidosis,and mutation: Lessons learned in the acute management of late onset urea cycle disorders
Iyer H, Sen M, Prasad C, Rupar T, Lindsay RM
Hemodial Int. 2011 Sept 19. Doi: 10.1111/j.1542-4758.00591.x.[Epub ahead of print]

Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing
Lahiry P, Lee LJ, Frey BJ, Rupar CA, Siu VM, Blencowe BJ, Hegele RA
PLoS One. 2011; 6(9):e25400

Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disease in Sertoli cells
Xu H, Kongmanas K, Kadunganattil S, Smith CE, Rupar T, Goto-Inoue N, Hermo L, Faull, KF, Tancphaichitr N
J Lipid Res. 2011; 52:2187-2197

Menkes disease and infantile epilepsy
Prasad AN, Levin S, Rupar CA, Prasad C
Brain Dev. 2011; 33:866-876

Pyruvate dehydrogenase deficiency and epilepsy
Prasad C, Rupar T, Prasad AN
Brain Dev. 2011; 33:856-865

Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infiancy
Bock DE, Rupar CA, Prasad C
Acta Paediatr. 2011; 100:130-2

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
Prasad AN, Rupar, CA, Prasad C
Brain Dev. 2011; 33:758-769

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P
J Inherit Metab Dis. 2011 Feb; 34(1):173-80

Amish, Mennonite and Hutterite Genetic Disorder Database
Payne M, Rupar CA, Siu GM, Siu VM
Paediatrics & Child Health. 2011; 16:E23-E24

Amish microcephaly: Long term survival and biochemical characterization
Siu VM, Ratko S, Prasad N, Prasad C, Rupar CA
Am J Med Genet A. 2010 Jul; 152A(7):1747-51

Inborn Errors of Metabolism in Infancy and Childhood Presenting with Metabolic Acidosis
Prasad C, Rupar CA
Indian J Practical Paediatrics. 2010

Transcobalamin deficiency in two siblings –importance of early cobalamin supplementation
Ratschmann R, Minkov M, Hung C, Rupar CA, Mühl A, Fowler B, Nexo E, Bodamer OA
Mol Gen Metab. 2009; 98:285-8

A multiplex human syndrome implicates a key role for intestinal cell kinase (ICK) in development of the central nervous, skeletal, and endocrine systems
Lahiry P, Wang J, Robinson JF, Litchfield DW, Turowec JP, Lanktree M, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA
Am J Hum Gen. 2009; 84:134-147

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
Miousse IR, Watkins D, Lavallée J, Coelho D, Rupar CA, Crombez EA, Vilain E, Cederbaum S, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DA
J Pediatr. 2009; 154:551-556

Abnormal Neurological Features Predict Poor Survival and Should Preclude Liver Transplantation in Patients with Deoxyguanosine Kinase Deficiency
Dimmock DP, Dunn JK, Feigenbaum A, Rupar CA, Horvath R, Freisinger P, Mousson de Camaret B, WongL-J, Scaglia F
Liver Transplantation. 2008; 14:1480-5

Transcobalamin (TC) deficiency-Potential Cause of Bone Marrow Failure in Childhood
Prasad C, Rosenblatt DS, Corley K, Cairney AEL, Rupar CA
J Inher Metab Disease. 2008 Oct 29. [Epub ahead of print]

Heparin Cofactor II-Thrombin Complex: A Biomarker of MPS Disease
Randall DR, Colobong KE, Hemmelgarn H; Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, Chan AK, Mitchell GA, Stockler S, Melancon SB, Rupar CA, Clarke LA
Mol Genet Metab. 2008; 94:456-461

Autosomal recessive GTP-Cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
Horvath GA, Salvarinova-Zivkovic, R, Lillquist YP,Connolly M, Hyland K, Blau,N, Rupar T,Waters PJ, Stockler S
Mol Genet Metab. 2008; 94:127-31
Mutations of the E1-Beta Subunit Gene (PDHB) in Four Families with Pyruvate Dehydrogenase Deficiency
Okajima K, Korotchkina LG, Prasad C, Rupar T, Philips J, Ficicioglu C, Hertecant J, Patel MS, Kerr DS
Mol Genet Metab. 2008; 93:371-80

The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model
Cipriano LE, Rupar CA, Zaric GS
Value Health. 2007 Mar-Apr; 10(2):83-97

Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes
Wu A, Anupriwan A, Iamsaard S, Chakrabandhu K, Santos DC, Rupar T, Tsang BK, Carmona E, Tanphaichitr N
J Cell Physiol. 2007 Oct; 213(1):201-11

Additional publications



Phone: (519) 685-8500, x71558
Fax: (519) 858-1063
Email: tony [dot] rupar [at] lhsc [dot] on [dot] ca