• Gibson, William T.


    Investigator, BC Children's Hospital
    Clinician Scientist, Laboratory for Obesity Genetics and Indirect Calorimetry (LOGIC), BC Children's Hospital Research Institute
    Associate Professor, Department of Medical Genetics, University of British Columbia

    Degrees / Designations
    B.Sc.(Hon), MD, PhD, FRCPC
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    604-875-2000 ext. 5523
    Lab Phone
    604-875-2000 ext. 6783
    Mailing Address
    Laboratory for Obesity Genetics and Indirect Calorimetry (LOGIC)
    BC Children's Hospital Research Institute
    Room A4-182 
    950 West 28th Avenue
    Vancouver, BC V5Z 4H4
    Affiliate Websites
    Research Areas
    • Weaver syndrome - mutation detection and new therapies
    • Cohen-Gibson syndrome - mutation detection and new therapies
    • Appetite regulation
    • Energy expenditure
    • Body composition
    • Monogenic human obesity disorders
    • Familial Brain Aneurysms
    Current Projects

    Our major interest is in rare mutations that predispose to common diseases, whether their effects are on aneurysm risk, food intake, energy expenditure or body growth (like the Weaver syndrome gene EZH2 and the Cohen-Gibson syndrome gene EED).

    By studying rare human genetic disorders like Weaver syndrome, Cohen-Gibson syndrome, paired with data from animal models of obesity and leanness, we hope to derive valuable lessons that are relevant to common disease risk in the general population.

    In addition to our recruitment of patients with rare overgrowth syndromes, we are also recruiting affected and unaffected members of families with Familial Brain Aneurysms.
    Selected Publications

    For the latest publications, please visit Dr. Gibson’s ORCID profile.

    Sabatini PV, Speckmann T, Nian C, Glavas MM, Wong CK, Yoon JS, Kin T, Shapiro AMJ Gibson WT, Verchere CB, Lynn FC. Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells. Cell Reports. 22(1), pp 163–174, 2 January 2018.

    Wong CK, Wade-Vallance AK, Luciani DS, Brindle PK, Lynn FC, Gibson WT.
    The p300 and CBP Transcriptional Coactivators are Required for Beta Cell and Alpha Cell Proliferation. Diabetes. 2017 Dec 7. pii: db170237. doi: 10.2337/db17-0237.

    Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium, Friedman JM, Gibson WT, Horvath GA. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Am J Med Genet A. 173(11):3087-3092 (Nov, 2017). doi: 10.1002/ajmg.a.38400. PMID: 28898540 

    Patankar JV, Wong CK, Morampudi V, Gibson WT, Vallance B, Ioannou GN, Hayden M. Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition. Am J Physiol Endocrinol Metab. 2017 Oct 24:ajpendo001722017. doi: 10.1152/ajpendo.00172.2017. PMID: 29066462

    Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study,* Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. Am J Hum Genet. 101(1):65-74. (July 2017) doi: 10.1016/j.ajhg.2017.05.016. PMID: 28669405
    * BCCH Biobank acknowledged here.

    Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Obes Rev. 18(6):603-634 (June, 2017); doi: 10.1111/obr.12531.

    Chin EH, Schmidt KL, Martel KM, Wong CK, Hamden JE, Gibson WT, Soma KK, Christians JK. A maternal high-fat, high-sucrose diet has sex-specific effects on fetal glucocorticoids with little consequence for offspring metabolism and voluntary locomotor activity in mice. PLoS One. March 16, 2017

    Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. Am J Med Genet A. 73(3):771-775. (March 2017) PMID: 28211972 doi: 10.1002/ajmg.a.38083.

    Hitchcock E, Gibson WT. A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling. Journal of Genetic Counselling. February 2017, 26(1), pp. 21–31.

    Bourne SC, Townsend KN, Shyr C, Matthews A, Lear SA, Attariwala R, Lehman A, Wasserman WW, van Karnebeek C, Sinclair G, Vallance H, Gibson WT. Optic atrophy, cataracts, lipodystrophy/lipoatrophy and peripheral neuropathy caused by a de novo OPA3 mutation. Cold Spring Harb Mol Case Studies,  January 2017, 3: doi:10.1101/mcs.a001156; Published in Advance October 28, 2016

    Trivedi A, Babic S, Heiman M, Gibson WT, Chanoine JP. Ghrelin, Ghrelin O-Acyltransferase, and Carbohydrate Metabolism During Pregnancy in Calorie-Restricted Mice. Horm Metab Res. 49(1):64-72. (Jan 2017) doi: 10.1055/s-0042-116117. PMID: 27701682. Epub Oct 4, 2016. 

    Leach EL, van Karnebeek CDM, Townsend KN, Tarailo-Graovac M, Hukin J, Gibson WT. Episodic ataxia associated with a de novo SCN2A mutation. Eur J Paed Neurol. 20(5): 772–776 (Sept 2016). PMID: 27328862

    Gibson WT. Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury. Med Sport Sci. 2016;61:1-14. doi: 10.1159/000445237. Epub 2016 Jun 10. PMID: 27287073

    Cohen ASA, Gibson WT. EED-associated overgrowth in a second male patient. J Hum Genet. Advance Online Publication 19 May 2016; doi: 10.1038/jhg.2016.51

    Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet. 89(3):275-84 (Mar 2016). PMID: 26283276

    Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function in Vitro. Hum Mutat. 37(3):301-7 (March 2016). PMID: 26694085

    Predham S, Hamilton S, Elliott AM, Gibson WT.Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome. Journal of Genetic Counseling. 25(1), 25-31 (Feb 2016). DOI 10.1007/s10897-015-9882-0. PMID: 26318596 

    Gupta S, Fahiminiya S, Wang T, Dempsey Nunez L, Rosenblatt DS, Gibson WT, Gilfix B, Bergeron JJM, Jerome-Majewska LA. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. Cold Spring Harb Mol Case Stud mcs.a000737. doi: 10.1101/mcs.a000737. Epub 2016 Feb 4.

    Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 221:59-63 (15 Jan 2016). PMID: 26555080

    Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium, Gerull B. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. PMID: 26666891

    Gibson, WT and Chanoine, JP. ESPE Classification of Paediatric Endocrine Diagnoses 2015 Update (Obesity).

    Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R. NSD1 mutations generate a genome-wide DNA methylation signature. Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207. PMID: 26690673

    Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. August 25, 2015;10:103. doi: 10.1186/s13023-015-0314-x.
    PMID: 26302956

    Tan J, Gibson WT. Leptin and Adiponectin: Examining their clinical significance in obesity. University of Toronto Medical Journal. 92(2): 24-26 (2015).

    Hitchcock E, Patankar JV, Tyson C, Hrynchak M, Hayden MR, Gibson WT. A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels. Clin Genet. 2015 Jul 1. doi: 10.1111/cge.12633. PMID: 26126777

    Billington E, Bernard G, Gibson WT, Corenblum B. Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature. Case Reports in Endocrinology, vol. 2015, Article ID 314594. doi:10.1155/2015/314594.

    Wu X, Conlin VS, Morampudi V, Ryz NR, Nasser Y, Bhinder G, Bergstrom KS, Yu HB, Waterhouse CC, Buchan AM, Popescu OE, Gibson WT, Waschek JA, Vallance BA, Jacobson K. Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice. PLoS One. 10(5), May 1, 2015:e0125225. PMID:25932952.

    Trivedi A, Babic S, Heiman M, Gibson WT, Chanoine JP. Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice. Peptides 65C:29-33 (2015). doi: 10.1016/j.peptides.2015.01.005. PMID: 25645493.

    Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJM, Gibson WT. A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 March 19. DOI:10.1038/jhg.2015.26. PMID: 25787343.

    Harel S, Cohen AS, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JBW, Van Karnebeek C, Kurata H, Ellard S, Chanoine JP, Gibson WT. Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. J Ped Endo Metab. 2015 Mar 1;28(3-4):345-51. doi: 10.1515/jpem-2014-0265. PMID: 25720052.

    Wong CK, Botta A, Pither J, Dai C, Gibson WT, Ghosh S. A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice. J Nutr Biochem. 2015 Apr;26(4):319-26. doi: 10.1016/j.jnutbio.2014.11.004.
    PMID: 25555452

    Gibson WT. Beneficial Metabolic Phenotypes Caused by Loss-of-Function APOC3 Mutations. Clin Genet 87(1):31-2 (2015). doi: 10.1111/cge.12483. 
    PMID: 25117375

    Baskin B, Stavropoulos DJ, Rebeiro PA, Orr J, Li M, Steele L, Marshall CR, Lemire EG, Boycott KM, Gibson W, Ray PN. Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms. Mol Genet Genomic Med 2(6):539-47 (2014). doi: 10.1002/mgg3.108.
     PMID: 25614876.

    Dyment DA, Gibson WT, Huang L, Bassyouni H, Hegele RA, Innes AM. Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. Eur J Med Genet 57(9):524-6 (2014). PMID: 24980513

    van den Berg S, Shen Y, Jones SJM, Gibson WT. Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report. J Genet Counseling 23(5):742-53 (2014). PMID: 24954083

    Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. Am J Med Genet A 164A(9):2360-4 (2014). PMID: 24903541 

    Chung BK, Eydoux P, van Karnebeek CD, Gibson WT.
    Duplication of AKT3 is associated with macrocephaly and speech delay. Am J Med Genet Part A 164A(7):1868-9 (2014). PMID: 24700746

    Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson W, Röthlisberger B, Heinimann K, Hall J, Gregory-Evans C, Wasserman W, Miny P, Friedman J.: Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet. 86(3):220-8 (2014). doi: 10.1111/cge.12301. PMID: 24128419

    Chung B, Gibson W. Autosomal-dominant PIK3R1 mutations cause SHORT syndrome. Clin Genet 85(3):228-9 (2014). doi: 10.1111/cge.12262.
    PMID: 24033310

    Potter KJ, Creighton S, Armstrong L, Eydoux P, Duncan W, Penny DJ, Fan Y, Gibson WT.: 
    The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations. Mol Syndromol 4:125-135 (2013). DOI: 10.1159/000347163

    Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G: Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. PMID: 23355746

    Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ,Eydoux P, Babul-Hirji R, An J, Marra MA, FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ: Mutations in EZH2 Cause Weaver Syndrome. Am J Hum Genet. 2011 Dec 15. [Epub ahead of print]. 
    PMID: 22177091

    Ngai YF, Chijiwa C, Mercimek-Mahmutoglu S, Stewart L, Yong SL, Robinson WP, Gibson WT. Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons. Am J Med Genet A. 152A(11): 2784–90 (2010). PMID: 20979189

    Ngai YF, Quong WL, Glier MB, Glavas MM, Babich SL, Innis SM, Kieffer TJ, Gibson WT. Ldlr-/- Mice Display Decreased Susceptibility to Western-Type Diet-Induced Obesity Due to Increased Thermogenesis. Endocrinology. 151(11): 5226-36 (2010).
    PMID: 20881250

    Gibson W, Liu J, Gaylinn B, Thorner MO, Meneilly GS, Babich SL, Thompson D, Chanoine JP. Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes. Metabolism. Jun;59(6):841-7 (2010).
    PMID: 20005544

    Glier MB, Pissios P, Babich SL, Macdonald ML, Hayden MR, Maratos-Flier E, Gibson WT. The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone. Peptides. 31(1):123-9 (2010).
    PMID: 19883709

    Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT. Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. Am J Med Genet A. 149A(7):1482-6 (2009).
    PMID: 19507262

    Gibson WT.  Genetic Association Studies for Complex Traits: Relevance for the Sports Medicine Practitioner.  Br J Sports Med. 43(5):314-316 (2009).
    PMID: 19066182

    Gibson W, Harvard C, Qiao Y, Somerville M, Lewis MES and E Rajcan-Separovic. Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. Am J Med Genet 146A(2):225-32 (2008).
    PMID: 18076105

    Gibson WT, Hayden MR. Mycophenolate mofetil and atherosclerosis: results of animal and human studies. Ann N Y Acad Sci. 1110:209-21 (2007).
    PMID: 17911436

    Zahir F, Firth H, Baross A, Delaney A, Eydoux P, Gibson W, Langlois S, Martin H, Willat L, Marra M and JM Friedman. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet 44(9):556-61 (2007).
    PMID: 17545556

    Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P and MA Marra.  Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79:500-513 (2006).
    PMID: 16909388

    Gibson WT, Hayden MR. Mycophenolate mofetil and animal models. Lupus 15(11 Suppl. 1):27-34 (2006).
    View online

    Gibson WT. The beat goes on: ciliary proteins are defective in Meckel syndrome. Clin Genet. 69(5):400-1 (2006).
    PMID: 16650076

    Van Raamsdonk JM, Gibson WT, Pearson J, Murphy Z, Lu G, Leavitt BR, Hayden MR. Body weight is modulated by levels of full-length huntingtin. Hum Mol Genet 15:1513-1523 (2006).
    PMID: 16571604

    Gibson WT. A New Marfan-like syndrome caused by perturbed transforming growth factor-beta signalling. Clin Genet 68(4):330-331 (2005).
    View online

    Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O’Rahilly S and RA Trussell. Congenital leptin deficiency due to homozygosity for the Δ133G mutation: report of a further case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab 89: 4821-26 (2004).
    PMID: 15472169

    Gibson WT, Ebersole BJ, Bhattacharyya S, Clayton P, Farooqi IS, Sealfon SC and S O'Rahilly. Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity. Can J Physi Pharm 82: 426-29 (2004).
    PMID: 15381968

    Gibson WT, Pissios P, Trombly D, Luan J, Wareham N, Maratos-Flier E, O’Rahilly  S and IS Farooqi. Melanin-concentrating hormone receptor mutations and human obesity: Functional analysis. Obes Res 12(5): 743-49 (2004).
    PMID: 15166293

    Gibson WT. Another four bite the dust: Mutations in a ubiquitously-expressed filamin protein cause several skeletal dysplasias. Clin Genet 66(2):110-111 (2004).
    View online

    Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GY, O'Rahilly S. Partial leptin deficiency and human adiposity. Nature. 414(6859):34-5 (2001).
    PMID: 11689931

    Active Funding:
    • CIHR Project Grant "Regulation of islet cell proliferation by p300"
    • CIHR Project Grant "Insights from rare overgrowth syndromes for common diseases"
    • Heart and Stroke Foundation of Canada Grant-in-Aid "Next-Generation Sequencing for Rare, Highly-Penetrant Mutations in Familial Intracranial Aneurysms"
    Honours & Awards
    • Promoted to UBC Associate Professor – 2013
    • NSERC Discovery Grant – 2011-2016
    • CIHR Clinician Scientist Phase 2 – 2007-2014
    • BC Children's Hospital Research Institute Clinician Scientist – 2007-2012
    • CIHR Institute of Nutrition, Metabolism and Diabetes Operating Grants – 2007-2012
    • CFI/BCKDF Leaders Opportunities Fund – 2007-2009
    • Canadian Child Health Clinician Scientist Program Career Enhancement Award – 2007-2010
    • CIHR Clinician Scientist Phase 1 – 2005-2007
    • CIHR-Institute of Genetics Clinician Investigator – 2005-2007
    • MSFHR Postdoctoral Fellowship – 2004-2005
    • CIHR Health Professionals Fellowship – 2001-2003
    • Overseas Research Studentship, Cambridge Overseas Trust – 2001-2003
    • Raymond and Beverly Sackler Award, University of Cambridge Clinical School – 2001-2003
    Research Group Members