We recruit patients and families with rare genetic diseases, and try to solve the underlying genetic cause by finding different mutations in the same gene among unrelated families with similar diseases.
We have been successful in finding mutations in major “epigenes” – these are genes that code for proteins that open DNA up to activate it, or close it down to keep it quiet. We hope that the rare syndromes we have described will help us learn how these epigenetic programs can increase or decrease the risks for common diseases in the general population.
Mutations in EZH2 cause weaver syndrome
American Journal of Human Genetics
Gibson, W.T. and Hood, R.L. and Zhan, S.H. and Bulman, D.E. and Fejes, A.P. and Moore, R. and Mungall, A.J. and Eydoux, P. and Babul-Hirji, R. and An, J. and Marra, M.A. and Chitayat, D. and Boycott, K.M. and Weaver, D.D. and Jones, S.J.M.
DOI: 10.1016/j.ajhg.2011.11.018
2012
A novel mutation in EED associated with overgrowth
Journal of Human Genetics
Cohen, A.S.A. and Tuysuz, B. and Shen, Y. and Bhalla, S.K. and Jones, S.J.M. and Gibson, W.T.
DOI: 10.1038/jhg.2015.26
2015
EED-associated overgrowth in a second male patient
Journal of Human Genetics
Cohen, A.S.A. and Gibson, W.T.
DOI: 10.1038/jhg.2016.51
2016
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
Human Mutation
Cohen, A.S.A. and Yap, D.B. and Lewis, M.E.S. and Chijiwa, C. and Ramos-Arroyo, M.A. and Tkachenko, N. and Milano, V. and Fradin, M. and Mckinnon, M.L. and Townsend, K.N. and Xu, J. and Van Allen, M.I. and Ross, C.J.D. and Dobyns, W.B. and Weaver, D.D. and Gibson, W.T.
DOI: 10.1002/humu.22946
2016
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling
Journal of Genetic Counseling
DOI: 10.1007/s10897-016-0029-8
2017
A systematic review of genetic syndromes with obesity
Obesity Reviews
DOI: 10.1111/obr.12531
2017
Severe obesity and global developmental delay in preschool children
11/2018
Maintenance of thermogenic adipose tissues despite loss of the H3K27 acetyltransferases p300 or CBP
American Journal of Physiology - Endocrinology and Metabolism
DOI: 10.1152/ajpendo.00120.2024
2024
Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant Function
bioRxiv
DOI: 10.1101/2024.02.18.580839
2024
NPAS4 is an allostatic regulator of POMC neuronal activity during diet-induced obesity
bioRxiv
DOI: 10.1101/2024.01.12.574247
2024
SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases
Progress in Neuro-Psychopharmacology and Biological Psychiatry
DOI: 10.1016/j.pnpbp.2023.110888
2024
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
Science Advances
DOI: 10.1126/sciadv.adh2726
2023
Rare diseases of epigenetic origin: Challenges and opportunities
Frontiers in Genetics
DOI: 10.3389/fgene.2023.1113086
2023
Activation of ß-catenin in mesenchymal progenitors leads to muscle mass loss
Developmental Cell
DOI: 10.1016/j.devcel.2023.02.009
2023
The H3K27 acetyltransferase p300 is dispensable for thermogenic adipose tissue formation and function.
bioRxiv
DOI: 10.1101/2023.08.23.554499
2023
Benchmarking brain organoid recapitulation of fetal corticogenesis
Cristina Cheroni and Sebastiano Trattaro and Nicolò Caporale and Alejandro López-Tobón and Erika Tenderini and Flavia Troglio and Michele Gabriele and Raul Bardini Bressan and Steven M Pollard and William T Gibson and Giuseppe Testa
DOI: 10.1101/2022.04.22.488753
04/2022
Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT
Iman Al Khatib and Jingti Deng and Symes Andrew Symes and Hongliang Zhang and Sharyin Huang and Yves Pommier and Aneal Khan and William Gibson and Timothy E Shutt
DOI: 10.1101/2022.03.08.483326
03/2022
Transient Polycomb activity represses developmental genes in growing oocytes
bioRxiv
DOI: 10.1101/2022.09.18.508436
2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
DOI: 10.1016/j.xhgg.2022.100108
2022
Searching for Monogenic Diabetes in a High-risk Autoimmune Diabetes Cohort: Needles in a Paperclip Stack
The Journal of Clinical Endocrinology & Metabolism
Daniel Gamu and William T Gibson
DOI: 10.1210/clinem/dgab244
07/2021
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Journal of Clinical Endocrinology and Metabolism
DOI: 10.1210/clinem/dgaa700
2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Cold Spring Harbor Molecular Case Studies
DOI: 10.1101/mcs.a006125
2021
SETD1B -associated neurodevelopmental disorder
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2019-106756
2021
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.61926
2021
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein–Taybi syndromes: potential role of H3K27 modifications
Molecular Case Studies
Daniel Gamu and William T. Gibson
DOI: 10.1101/mcs.a005058
08/2020
T reg–specific insulin receptor deletion prevents diet-induced and age-associated metabolic syndrome
Journal of Experimental Medicine
Dan Wu and Chi Kin Wong and Jonathan M. Han and Paul C. Orban and Qing Huang and Jana Gillies and Majid Mojibian and William T. Gibson and Megan K. Levings
DOI: 10.1084/jem.20191542
08/2020
ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease
William T. Gibson and Daniel M Evans and Jianghong An and Steven JM Jones
DOI: 10.1101/2020.04.05.026633
04/2020
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain : a journal of neurology
DOI: 10.1093/brain/awz379
PubMed: 31834374
01/2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2020.03.008
2020
Rare SUZ12 variants commonly cause an overgrowth phenotype.
American journal of medical genetics. Part C, Seminars in medical genetics
DOI: 10.1002/ajmg.c.31748
PubMed: 31736240
11/2019
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
American journal of medical genetics. Part C, Seminars in medical genetics
DOI: 10.1002/ajmg.c.31754
PubMed: 31724824
11/2019
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Journal of child neurology
DOI: 10.1177/0883073819854853
PubMed: 31208268
06/2019
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
Journal of human genetics
DOI: 10.1038/s10038-019-0561-0
PubMed: 30670789
01/2019
Complexity in unclassified auto-inflammatory disease: A case report illustrating the potential for disease arising from the allelic burden of multiple variants
Pediatric Rheumatology
DOI: 10.1186/s12969-019-0374-x
2019
Correction to: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)
Nature Communications
DOI: 10.1038/s41467-019-08800-2
2019
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
Translational Research
DOI: 10.1016/j.trsl.2019.02.004
2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
DOI: 10.1007/s00431-019-03399-4
2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)
Nature Communications
DOI: 10.1038/s41467-019-10161-9
2019
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Nature Communications
DOI: 10.1038/s41467-018-06014-6
2018
Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells
Cell Reports
DOI: 10.1016/j.celrep.2017.12.033
2018
Genetic ablation of cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition
American Journal of Physiology - Endocrinology and Metabolism
DOI: 10.1152/ajpendo.00172.2017
2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing
Molecular Syndromology
DOI: 10.1159/000484532
2018
The p300 and CBP transcriptional coactivators are required for ß-cell and a-cell proliferation
Diabetes
DOI: 10.2337/db17-0237
2018
ROHHAD and Prader-Willi syndrome (PWS): Clinical and genetic comparison
Orphanet Journal of Rare Diseases
DOI: 10.1186/s13023-018-0860-0
2018
Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2017-105013
2018
Loss of maternal EED results in postnatal overgrowth
Clinical Epigenetics
DOI: 10.1186/s13148-018-0526-8
2018
Identification of rare de novo epigenetic variations in congenital disorders
bioRxiv
DOI: 10.1101/250787
2018
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.38400
2017
Ghrelin, Ghrelin O -Acyltransferase, and Carbohydrate Metabolism during Pregnancy in Calorie-Restricted Mice
Hormone and Metabolic Research
Trivedi, A. and Babic, S. and Heiman, M. and Gibson, W.T. and Chanoine, J.-P.
DOI: 10.1055/s-0042-116117
2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex
American Journal of Medical Genetics, Part A
Farach, L.S. and Gibson, W.T. and Sparagana, S.P. and Nellist, M. and Stumpel, C.T.R.M. and Hietala, M. and Friedman, E. and Pearson, D.A. and Creighton, S.P. and Wagemans, A. and Segel, R. and Ben-Shalom, E. and Au, K.S. and Northrup, H.
DOI: 10.1002/ajmg.a.38083
2017
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
DOI: 10.1371/journal.pone.0174030
2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2017.05.016
2017
Corrigendum: A novel mutation in EED associated with overgrowth
Journal of human genetics
DOI: 10.1038/jhg.2016.156
2017
Absence of mutations in HCRT , HCRTR1 and HCRTR2 in patients with ROHHAD
Respiratory Physiology & Neurobiology
Sarah F. Barclay and Casey M. Rand and Paul A. Gray and William T. Gibson and Richard J.A. Wilson and Elizabeth M. Berry-Kravis and Diego Ize-Ludlow and N. Torben Bech-Hansen and Debra E. Weese-Mayer
DOI: 10.1016/j.resp.2015.11.002
01/2016
A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels
Clinical Genetics
Hitchcock, E. and Patankar, J.V. and Tyson, C. and Hrynchak, M. and Hayden, M.R. and Gibson, W.T.
DOI: 10.1111/cge.12633
2016
Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury
Medicine and Sport Science
Gibson, W.T.
DOI: 10.1159/000445237
2016
Episodic ataxia associated with a de novo SCN2A mutation
European Journal of Paediatric Neurology
Leach, E.L. and van Karnebeek, C.D.M. and Townsend, K.N. and Tarailo-Graovac, M. and Hukin, J. and Gibson, W.T.
DOI: 10.1016/j.ejpn.2016.05.020
2016
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Human Mutation
Brodehl, A. and Ferrier, R.A. and Hamilton, S.J. and Greenway, S.C. and Brundler, M.-A. and Yu, W. and Gibson, W.T. and Mckinnon, M.L. and Mcgillivray, B. and Alvarez, N. and Giuffre, M. and Schwartzentruber, J. and Gerull, B. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1002/humu.22942
2016
Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome
Journal of Genetic Counseling
DOI: 10.1007/s10897-015-9882-0
2016
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Clinical genetics
DOI: 10.1111/cge.12654
PubMed: 26283276
09/2015
Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice
Peptides
DOI: 10.1016/j.peptides.2015.01.005
03/2015
NSD1 mutations generate a genome-wide DNA methylation signature
Nature Communications
Choufani, S. and Cytrynbaum, C. and Chung, B.H.Y. and Turinsky, A.L. and Grafodatskaya, D. and Chen, Y.A. and Cohen, A.S.A. and Dupuis, L. and Butcher, D.T. and Siu, M.T. and Luk, H.M. and Lo, I.F.M. and Lam, S.T.S. and Caluseriu, O. and Stavropoulos, D.J. and Reardon, W. and Mendoza-Londono, R. and Brudno, M. and Gibson, W.T. and Chitayat, D. and Weksberg, R.
DOI: 10.1038/ncomms10207
2015
Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice
PLoS ONE
Wu, X. and Conlin, V.S. and Morampudi, V. and Ryz, N.R. and Nasser, Y. and Bhinder, G. and Bergstrom, K.S. and Yu, H.B. and Waterhouse, C.C.M. and Buchan, A.M.J. and Popescu, O.E. and Gibson, W.T. and Waschek, J.A. and Vallance, B.A. and Jacobson, K.
DOI: 10.1371/journal.pone.0125225
2015
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: An unusual clinical picture
Journal of Pediatric Endocrinology and Metabolism
Harel, S. and Cohen, A.S.A. and Hussain, K. and Flanagan, S.E. and Schlade-Bartusiak, K. and Patel, M. and Courtade, J. and Li, J.B.W. and Van Karnebeek, C. and Kurata, H. and Ellard, S. and Chanoine, J.-P. and Gibson, W.T.
DOI: 10.1515/jpem-2014-0265
2015
A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice
Journal of Nutritional Biochemistry
Wong, C.K. and Botta, A. and Pither, J. and Dai, C. and Gibson, W.T. and Ghosh, S.
DOI: 10.1016/j.jnutbio.2014.11.004
2015
Leptin and adiponectin: Examining their clinical significance in obesity
University of Toronto Medical Journal
Tan, J. and Gibson, W.T.
2015
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Exome sequencing of trios, monozygotic twins and tumours
Orphanet Journal of Rare Diseases
Barclay, S.F. and Rand, C.M. and Borch, L.A. and Nguyen, L. and Gray, P.A. and Gibson, W.T. and Wilson, R.J.A. and Gordon, P.M.K. and Aung, Z. and Berry-Kravis, E.M. and Ize-Ludlow, D. and Weese-Mayer, D.E. and Bech-Hansen, N.T.
DOI: 10.1186/s13023-015-0314-x
2015
Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations
Clinical Genetics
Gibson, W.T.
DOI: 10.1111/cge.12483
2015
Autosomal dominant PIK3R1 mutations cause SHORT syndrome
Clinical Genetics
Chung, B.K. and Gibson, W.T.
DOI: 10.1111/cge.12262
2014
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
American Journal of Medical Genetics, Part A
Cohen, A.S.A. and Townsend, K.N. and Xiang, Q.-S. and Attariwala, R. and Borchers, C. and Senger, C. and Picker, W. and Levi, J. and Yewchuk, L. and Tan, J. and Eydoux, P. and Lum, A. and Yong, S.-L. and Mckinnon, M.L. and Lear, S.A. and Everett, R. and Jones, S.J.M. and Yip, S. and Gibson, W.T.
DOI: 10.1002/ajmg.a.36622
2014
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome
European Journal of Medical Genetics
Dyment, D.A. and Gibson, W.T. and Huang, L. and Bassyouni, H. and Hegele, R.A. and Innes, A.M.
DOI: 10.1016/j.ejmg.2014.06.006
2014
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
Clinical Genetics
Filges, I. and Nosova, E. and Bruder, E. and Tercanli, S. and Townsend, K. and Gibson, W.T. and Röthlisberger, B. and Heinimann, K. and Hall, J.G. and Gregory-Evans, C.Y. and Wasserman, W.W. and Miny, P. and Friedman, J.M.
DOI: 10.1111/cge.12301
2014
Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report
Journal of Genetic Counseling
van den Berg, S. and Shen, Y. and Jones, S.J.M. and Gibson, W.T.
DOI: 10.1007/s10897-014-9737-0
2014
Duplication of AKT3 is associated with macrocephaly and speech delay
American Journal of Medical Genetics, Part A
Chung, B.K. and Eydoux, P. and Van Karnebeek, C.D. and Gibson, W.T.
DOI: 10.1002/ajmg.a.36521
2014
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
Molecular Genetics and Genomic Medicine
DOI: 10.1002/mgg3.108
2014
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
Journal of Medical Genetics
Daoud, H. and Tétreault, M. and Gibson, W. and Guerrero, K. and Cohen, A. and Gburek-Augustat, J. and Synofzik, M. and Brais, B. and Stevens, C.A. and Sanchez-Carpintero, R. and Goizet, C. and Naidu, S. and Vanderver, A. and Bernard, G.
DOI: 10.1136/jmedgenet-2012-101357
2013
The c.7409G>A (p.Cys2470Tyr) variant of FBN1: Phenotypic variability across three generations
Molecular Syndromology
Potter, K.J. and Creighton, S. and Armstrong, L. and Eydoux, P. and Duncan, W. and Penny, D.J. and Fan, Y. and Gibson, W.T.
DOI: 10.1159/000347163
2013
Mutations in EZH2 Cause Weaver Syndrome.
12/2011
Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4
Neuromuscular Disorders
Baskin, B. and Gibson, W.T. and Ray, P.N.
DOI: 10.1016/j.nmd.2010.11.008
2011
Acute disruption of leptin signaling in vivo leads to increased insulin levels and insulin resistance
Endocrinology
Levi, J. and Gray, S.L. and Speck, M. and Huynh, F.K. and Babich, S.L. and Gibson, W.T. and Kieffer, T.J.
DOI: 10.1210/en.2011-0185
2011
Ldlr-/- mice display decreased susceptibility to western-type diet-induced obesity due to increased thermogenesis
Endocrinology
Ngai, Y.F. and Quong, W.L. and Glier, M.B. and Glavas, M.M. and Babich, S.L. and Innis, S.M. and Kieffer, T.J. and Gibson, W.T.
DOI: 10.1210/en.2010-0496
2010
The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
Peptides
Glier, M.B. and Pissios, P. and Babich, S.L. and Macdonald, M.L.E. and Hayden, M.R. and Maratos-Flier, E. and Gibson, W.T.
DOI: 10.1016/j.peptides.2009.10.018
2010
Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons
American Journal of Medical Genetics, Part A
Ngai, Y.F. and Chijiwa, C. and Mercimek-Mahmutoglu, S. and Stewart, L. and Yong, S.-L. and Robinson, W.P. and Gibson, W.T.
DOI: 10.1002/ajmg.a.33172
2010
Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes
Metabolism: Clinical and Experimental
Gibson, W. and Liu, J. and Gaylinn, B. and Thorner, M.O. and Meneilly, G.S. and Babich, S.L. and Thompson, D. and Chanoine, J.-P.
DOI: 10.1016/j.metabol.2009.09.033
2010
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.
DOI: 10.1186/1471-2164-10-526
2009
Genetic association studies for complex traits: Relevance for the sports medicine practitioner
British Journal of Sports Medicine
Gibson, W.T.
DOI: 10.1136/bjsm.2008.052191
2009
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
American Journal of Medical Genetics, Part A
Demos, M.K. and Fullston, T. and Partington, M.W. and Gécz, J. and Gibson, W.T.
DOI: 10.1002/ajmg.a.32851
2009
Key concepts in human genetics: Understanding the complex phenotype
Medicine and Sport Science
Gibson, W.T.
DOI: 10.1159/000235693
2009
Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
American Journal of Medical Genetics, Part A
Lehman, A.M. and McFadden, D. and Pugash, D. and Sangha, K. and Gibson, W.T. and Patel, M.S.
DOI: 10.1002/ajmg.a.32277
2008
Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice
Journal of Lipid Research
MacDonald, M.L.E. and Singaraja, R.R. and Bissada, N. and Ruddle, P. and Watts, R. and Karasinska, J.M. and Gibson, W.T. and Fievet, C. and Vance, J.E. and Staels, B. and Hayden, M.R.
DOI: 10.1194/jlr.M700478-JLR200
2008
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
American Journal of Medical Genetics, Part A
Gibson, W.T. and Harvard, C. and Qiao, Y. and Somerville, M.J. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.32056
2008
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Journal of Medical Genetics
Zahir, F. and Firth, H.V. and Baross, A. and Delaney, A.D. and Eydoux, P. and Gibson, W.T. and Langlois, S. and Martin, H. and Willatt, L. and Marra, M.A. and Friedman, J.M.
DOI: 10.1136/jmg.2007.050823
2007
Mycophenolate mofetil and atherosclerosis: Results of animal and human studies
Annals of the New York Academy of Sciences
DOI: 10.1196/annals.1423.023
2007
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
American Journal of Human Genetics
Friedman, J.M. and Baross, Á. and Delaney, A.D. and Ally, A. and Arbour, L. and Asano, J. and Bailey, D.K. and Barber, S. and Birch, P. and Brown-John, M. and Cao, M. and Chan, S. and Charest, D.L. and Farnoud, N. and Fernandes, N. and Flibotte, S. and Go, A. and Gibson, W.T. and Holt, R.A. and Jones, S.J.M. and Kennedy, G.C. and Krzywinski, M. and Langlois, S. and Li, H.I. and McGillivray, B.C. and Nayar, T. and Pugh, T.J. and Rajcan-Separovic, E. and Schein, J.E. and Schnerch, A. and Siddiqui, A. and Van Allen, M.I. and Wilson, G. and Yong, S.-L. and Zahir, F. and Eydoux, P. and Marra, M.A.
DOI: 10.1086/507471
2006
The beat goes on: ciliary proteins are defective in Meckel syndrome.
Clinical genetics
Gibson, W.T.
DOI: 10.1111/j.1399-0004.2006.00595b.x
2006
Mycophenolate mofetil and animal models
Lupus
Gibson, W.T. and Hayden, M.R.
DOI: 10.1177/0961203306071675
2006
Body weight is modulated by levels of full-length Huntingtin
Human Molecular Genetics
Van Raamsdonk, J.M. and Gibson, W.T. and Pearson, J. and Murphy, Z. and Lu, G. and Leavitt, B.R. and Hayden, M.R.
DOI: 10.1093/hmg/ddl072
2006
Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy
Journal of the National Medical Association
2005
A new Marfan-like syndrome caused by pertubed transforming growth factor-ß signaling
Clinical Genetics
Gibson, W.T.
DOI: 10.1111/j.1399-0004.2005.0507c.x
2005
Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasias
Clinical Genetics
William T Gibson
DOI: 10.1111/j.1399-0004.2004.00295c.x
06/2004
So many asthma loci, so little time
Clinical Genetics
Paul C Orban and William T Gibson
DOI: 10.1111/j.1399-0004.2004.00295a.x
06/2004
Melanin-concentrating hormone receptor mutations and human obesity: Functional analysis
Obesity Research
Gibson, W.T. and Pissios, P. and Trombly, D.J. and Luan, J. and Keogh, J. and Wareham, N.J. and Maratos-Flier, E. and O\'Rahilly, S. and Farooqi, I.S.
2004
Congenital leptin deficiency due to homozygosity for the ¿133G mutation: Report of another case and evaluation of response to four years of leptin therapy
Journal of Clinical Endocrinology and Metabolism
Gibson, W.T. and Farooqi, I.S. and Moreau, M. and DePaoli, A.M. and Lawrence, E. and O\'Rahilly, S. and Trussell, R.A.
DOI: 10.1210/jc.2004-0376
2004
Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity
Canadian Journal of Physiology and Pharmacology
Gibson, W.T. and Ebersole, B.J. and Bhattacharyya, S. and Clayton, P. and Farooqi, I.S. and Sealfon, S.C. and O\'Rahilly, S.
DOI: 10.1139/y04-025
2004
Searching for the 'natural': the case for the gene 'for' homosexuality.
Human reproduction and genetic ethics
Gibson, W.T. and Dormor, D.J.
2003
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: A novel neonatal phenotype dimilar to peroxisomal biogenesis disorders.
American Journal of Human Genetics
PubMed: 11992258
04/2002
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: A novel neonatal phenotype similar to peroxisomal biogenesis disorders
American Journal of Human Genetics
DOI: 10.1086/340849
2002
Metabolism: Partial leptin deficiency and human adiposity
Nature
Farooqi, I.S. and Keogh, J.M. and Kamath, S. and Jones, S. and Gibson, W.T. and Trussell, R. and Jebb, S.A. and Lip, G.Y.H. and O\'rahilly, S.
DOI: 10.1038/35102112
2001
Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1)gene encoding a high-affinity receptor for nerve growth factor
American Journal of Human Genetics
DOI: 10.1086/302422
1999
First trimester fetal heart rate: Response to chorionic villus sampling in the chromosomally normal fetus
Fetal Diagnosis and Therapy
Wilson, R.D. and Gibson, W. and Bebbington, M. and Walker, M. and Shaw, D.
1997
The immunoglobulin heavy chain and disease association: Application to pemphigus vulgaris
Human Genetics
Gibson, W.T. and Walter, M.A. and Ahmed, A.R. and Alper, C.A. and Cox, D.W.
1994
Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region
Journal of Clinical Investigation
Walter, M.A. and Gibson, W.T. and Ebers, G.C. and Cox, D.W.
1991
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.
CIHR Project Grant "Regulation of islet cell proliferation by p300" 2016-2019
NSERC Discovery Grant – 2011-2016
CIHR Project Grant "Functional Studies of Coding Variants in Polycomb Repressive Complex" 2020-2025
CIHR Project Grant "Insights from rare overgrowth syndromes for common diseases" 2016-2019
Heart and Stroke Foundation of Canada Grant-in-Aid "Next-Generation Sequencing for Rare, Highly-Penetrant Mutations in Familial Intracranial Aneurysms" 2017-2020
CIHR Clinician Scientist Phase 2 – 2006-2014
Promoted to Full Professor at UBC - 2018
CIHR Insititute of Genetics Clinician-Investigator Award - 2006-2008
Promoted to Associate Professor at UBC – 2013
Makenna Cameron
Daniel Gamu, Postdoctoral Research Fellow
Tess Lengyell, Research Technician, Research Technician
Lily Macdonald, Gibson Masters Student
Ali Salehi, Graduate Student
New research by Dr. William Gibson identifies multiple families with a gene defect that leads to a rare childhood overgrowth syndrome.
In a study recently published in Diabetes by Dr. Bill Gibson and UBC PhD student Chi Kin Wong, one patient’s rare mutation has led to the discovery of two proteins that help prevent diabetes from developing. Wong talks about how this research could lead to new treatments for diabetes and what rare diseases can teach us about how the human body works.
Human DNA testing could improve outcomes for patients with COVID-19.
That’s the key idea put forth in preliminary research posted this month to bioRxiv that highlights the potential benefits of testing COVID-19 patients for genetic variants of ACE2—the protein identified as the point-of-entry for the SARS-COV-2 virus into human cells.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.