• Lillquist, Yolanda

    Titles

    Clinical Investigator, BC Children's Hospital Research Institute
    Clinical Assistant Professor, Department of Pediatrics, Faculty of Medicine, University of British Columbia

    Degrees / Designations
    MD, FRCPC
    Primary Area of Research
    Secondary Area(s) of Research
    Phone
    604-875-2345 x2629
    Fax
    604-875-2349
    Lab Phone
    Mailing Address
    BC Children's Hospital
    Ambulatory Care Building, Room K3-205
    4480 Oak Street
    Vancouver, BC V6H 3V4
    Affiliate Websites
    Research Areas
    • Treatable Inborn Errors of Metabolism
    • PKU and BH4
    • CF and Pseudomonas aeruginosa
    • CF and CFTR potentiators / correctors
    Summary

    As a clinician with the Biochemical Disease Clinical Service over the past 20 years, improvement in clinical outcome, life expectancy, quality of life and access to services has been a primary focus of the division and my involvement in clinical research.  

    Phenylketonuria (PKU) has been part of Newborn Screening Programs for decades, making early diagnosis and intervention with a low protein diet and special PKU formula the standard of care. An overview of the BC experience and classical PKU children was recently completed. Now, looking forward, intervention with the cofactor BH4 for the deficient enzyme phenylalanine hydroxylase may afford further benefit for certain individuals with PKU who have milder phenotypes as identified by their PKU mutation. Collaborative research into determining the mutations of children with PKU in BC as well as my involvement in clinical trials with BH4 are ongoing, setting the stage for a personalized approach to PKU management.   

    Life expectancy for individuals with cystic fibrosis has steadily improved over the past 20 years - the median age as reported in the 2010 Canadian CF Foundation Patient Data Registry is 48 years. My review of the aggressive early eradication of Pseudomonas aeruginosa (PA) has identified a decrease in the chronic colonization rate of PA at BCCH from 44% in 1996 to 14% in 2012. Analysis of the economic impact of early PA eradication saves drug costs and lowers hospital days. My research interest in tracking anti-PA antibody levels in CF patients and RAPD-typing of repeat PA isolates in a patient allows for appropriate treatment decision-making. Participation in clinical research with innovative drugs that are CFTR protein potentiators and correctors brings a new approach to CF treatment. 

    Current Projects
    • PKU - effect of BH4 on neurocognitive function, blood phenylalanine levels, and safety in young children with PKU
    • PKU - effect of plasma phenylalanine and tyrosine on selective dopamine-dependent brain function in children with PKU
    • Intellectual disability in children due to treatable inborn errors of metabolism
    • CF - early eradication of Pseudomonas aeruginosa, anti-Pseudomonas antibody profiling in CF, Pseudomonas RAPD-typing
    • CF - Pseudomonas biofilm antimicrobial susceptibility
    • CF - CFTR protein potentiators and correctors
    Selected Publications

    Hartnett C, Tap-Todos E, Salvarinova R, Cheng, B, Giezen A, Horvath G, Lillquist Y, Vallance H, Stockler-Ipsirooglu S.  Long term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. Molecular Genetics and Metabolism 2013. Epub 2013 Jan 23. PMID: 23465864

    Salvarinova R, Hartnett C, Sinclair G, Dix D, Horvath G, Lillquist Y, Stockler-Ipsiroglu S. The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report.  Molecular Genetics and Metabolism 2012 Apr 105(4):671-4.  Epub 2012 Jan 16. PMID: 22305856

    Davidson AGF, Chilvers MA, Lillquist YP.  Effects of a Pseudomonas aeruginosa eradication policy in a cystic fibrosis clinic.  Current Opinion in Pulmonary Medicine 2012 Nov 18(6):615-621. PMID: 22990661

    Lillquist YP, Cho E, Davidson AG. Economic effects of an eradication protocol for first appearance of Pseudomonas aeruginosa in cystic fibrosis patients: 1995 vs. 2009. Journal of Cystic Fibrosis. 2011 May; 10(3): 175-80. PMID: 21310671

    Mattman A, Jarvis-Selinger S, Mezei MM, Salvarinova-Zivkovic R, Alfadhel M, Lillquist Y. Mitochondrial disease clinical manifestations: An Overview.  BCMJ, 53(4), May 2011, 183-187. 

    Alfadhel M, Lillquist Y, Davis C, Junker AK, Stockler-Ipsiroglu S. 18 year follow-up of a patient with Cobalamin F Disease (Cbl F): Report and Review. Am J Med Genet Part A. 155(10), October 2011: p 2571-2577. PMID: 21910240

    Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD.  Infantile cardioencephalopathy due to a COX15 gene defect: Report and Review.  Am J Med Genet A. 2011 Mar 15. doi: 10.1002/ajmg.a.33881 (Epub ahead of print). PMID: 21412973

    Alfadhel M, Yong SL, Lillquist Y, Langlois S. Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described. J Child Neurol. published online 18 May 2011. PMID: 21596701

    Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJA, Olpin SE. The paradox of the carnitine palmitoyltransferase type 1a P479L variant in Canadian Aboriginal populations.  Molecular Genetics and Metabolism. 2009 Apr; 96(4):201-7. PMID: 19217814

    Horvath GA, Davidson AGF, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Newborn screening for MCAD deficiency: Experience of the first three years in British Columbia, Canada. Canadian Journal of Public Health 2008 Jul-Aug; 99(4):276-80. PMID: 18767270

    Grants
    • PKU 015: Biomarin Co-PI
    • TIDE BC: CIHR Collaborator
    • Tiger (Denufosol) CF study: INSPIRE PI
    • Azithromycin CF Study: US CF Foundation Co-PI
    • Biofilm CF Study in chronic Pseudomonas: Toronto Sick Kids Co-PI
    • VERTEX: CFTR potentiator Co-PI
    • VEST Study: Canadian CF Foundation Co-PI
    • ISIS Hypertonic Saline: US CF Foundation Co-PI 
    Honours & Awards
    • Excellence in Education Awards 2008: A. Gravelle, G. Davidson, Y. Lillquist, D. Peacock, M. McIlwaine, B. Bell, S. Jenkins – Cystic Fibrosis Family Education Day, BC Children’s Hospital
    • SUNY Buffalo - Regents Scholarship / Phi Beta Kappa
    Research Group Members
    • L. Morishita - lab technician
    • S. Stockler, MD PhD - Collaborator
    • C. Van Karnabeek, MD PhD - Collaborator
    • M. Chilvers, MD - Collaborator