• Patel, Millan

    Titles

    Investigator, BC Children's Hospital
    Clinical Assistant Professor, Department of Medical Genetics, University of British Columbia

    Degrees / Designations
    MD, M.Sc.
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Phone
    604-875-2000 ext. 6847
    Fax
    604-875-2376
    Lab Phone
    Mailing Address

    BC Children's Hospital
    Room C234
    4500 Oak Street
    Vancouver, BC V6H 3N1

    Affiliate Websites
    Research Areas
    • Infections as a cause of prematurity or birth defects
    • Genetic studies of bone disorders
    • Genetic studies of eye diseases
    Summary

    One in thirty-three children is born with a major birth defect. The causes are mostly unknown, but in rare cases may be due to a viral infection during pregnancy. We plan to use a new technology to check for all known viruses at once, using amniotic fluid from affected pregnancies. Preterm birth is the largest cause of infant mortality in Canada. We plan to use the same technology to look for viruses as triggers of preterm birth.

    Adams Oliver syndrome features scalp defects and amputation-like defects of the limbs, in addition to a host of blood vessel-related problems. We have found new changes in 2 genes that cause this condition and are searching for more as a genetic cause is found in less than 20% of patients. We are also pursuing mechanistic studies to better understand how to improve the blood vessel problems, some of which can be fatal. 

    Osteoporosis, a disease of brittle bones, is the most common disease of later life, particularly affecting women. We are recruiting families with either very strong or very weak bones who also show signs of sympathetic nervous system changes. By finding the genes responsible for the bone changes in these families, we hope to gain insight into the control of bone strength and thereby aid the development of restorative therapies.

    Current Projects
    Selected Publications

    Lehman A, Wuyts W, Patel MS. Adams-Oliver Syndrome. 2016 Apr 14. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from:
    https://www.ncbi.nlm.nih.gov/books/NBK355754/ PMID: 27077170 

    Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet 97:475-482, 2015. PMID: 26299364

    Sheffield BS, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF. Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature. Pediatr Dev Pathol 18:237-244, 2015. PMID: 25668678

    Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Mutations in NOTCH1 Cause Adams-Oliver Syndrome. Am J Hum Genet 95:275-284, 2014. PMID: 25132448

    Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. Am J Med Genet 164:2656-2662, 2014. PMID: 25091416

    Martin BM, Ivanova MH, Sarukhanov, Kim A, Power P, Pugash D, Popescu OE, Lachman RS, Krakow D, Patel MS. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders. 2014. AM J Med Genet A 164A(10): 2490-5. DOI: 10.1002/ajmg.a.36656. PMID: 24995648

    Lehman AM, Cong CC, Harries AM, Patel A, Honey CR, Patel MS. Evidence of ancillary trigeminal innervation of levator palpebrae in the general population. 2014. J Clin Neurosci 21(2): 301-4. DOI: 10.1016/j.jocn.2013.03.029. PMID: 24120706

    Lehman AM, Cowan JR, McFadden DE, Patel MS. Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain. 2014. Am J Med Genet A 164A(7):1860-2. DOI: 10.1002/ajmg.a.36529. PMID: 24700809

    Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M. 2014. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. Am J Med Genet A 164A(10):2656-62. DOI: 10.1002/ajmg.a.36685. PMID: 25091416

    Ye XC, Pegado V, Patel MS, Wasserman WW. 2014. Strabismus genetics across a spectrum of eye misalignment disorders. Clin Genet 86(2):103-11. PMCID: PMC4233980. DOI: 10.1111/cge.12367. PMID: 24579652

    Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, et al. 2014 (Patel MS). Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet 95(3):275-84. PMCID: PMC4157158. DOI: 10.1016/j.ajhg.2014.07.011. PMID: 25132448

    McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, Marr N, Martin SD, Marwaha AK, Priatel JJ, et al (Patel MS). 2014. Combined immunodeficiency associated with homozygous MALT1 mutations. J Allergy Clin Immunol 133(5):1458,62, 1462.e1-7. DOI: 10.1016/j.jaci.2013.10.045. PMID: 24332264

    Langsetmo L, Berger C, Kreiger N, Kovacs CS, Hanley DA, Jamal SA, Whiting SJ, Genest J, Morin SN, Hodsman A, Prior JC, Lentle B, Patel MS, Brown JP, Anastasiades T, Towheed T, Josse RG, Papaioannou A, Adachi JD, Leslie WD, Davison KS, Goltzman D; the CaMos Group. Calcium and Vitamin D Intake and Mortality: Results from the Canadian Multicentre Osteoporosis Study (CaMos). J Clin Endocrinol Metab 98:3010-3018, 2013. PMID: 23703722

    Liu CT, Estrada K, Yerges-Armstrong LM… Nogues X, Patel MS, Prezelj J… Kiel DP, Cupples LA, Hsu YH. Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res 27:2051-2064, 2012. PMID: 22692763

    Estrada K, Styrkarsdottir U, Evangelou E...Nogues X, Patel MS, Prezelj J…Ioannidis JP, Kiel DP, Rivadeneira F. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 44:491-501, 2012. PMID: 22504420

    Lauson S, Alvarez C, Patel MS, Langlois S. Outcome of prenatally diagnosed isolated clubfoot. Ultrasound Obstet Gynecol 35:708-714, 2010. PMID: 20069547

    Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 10:526, 2009. PMID: 19917086

    Lehman AM, Patel MS. Childhood-onset hemiatrophy caused by unilateral morphea. Clin Dysmorphol 18:213-214, 2009. PMID: 19543082

    Dias C, Cairns R, Patel MS. Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol 18:25-29, 2009. PMID: 19050401

    Lehman AM, McFadden D, Pugash D, Gibson WT, Patel MS. Schinzel-Giedion Syndrome: A Report of Splenopancreatic Fusion and Proposal of Diagnostic Criteria. Am J Med Genet 146A:1299-1306, 2008.

    Grants

    CIHR Operating Grant - Project: "Amniotic Fluid Virome and Preterm Birth."

    Honours & Awards

    CORD Scientific Leadership Award 2015
    UBC Clinical Faculty Award for Excellence in Clinical Teaching - 2013
    Clinical Teaching Award, UBC Department of Medical Genetics 2012
    Advances in Mineral Metabolism Investigator Award - 2002 
    Canadian Institutes of Health Research Fellowship - 1999-2003
    Hospital for Sick Children Trainee Start Up Fund Grant - 1997 
    First Prize, F.M. Hill Resident Research Competition - 1997 
    Outstanding Scholarship Award in Community Medicine - 1992 
    Fison's Corporation Scholarship in Immunology and Allergy - 1991 
    National Sciences and Engineering Research Council Post-Graduate Scholarship - 1989-1990
    National Sciences and Engineering Research Council Graduate Faculty Scholarship - 1989-1990
    Alberta Heritage Fund for Medical Research Studentship - 1988-1992

    Research Group Members
    • HanChen Wang - Summer Student
    • Anne Swenerton - Genetic counsellor
    • Karan Sangha - Genetic counsellor
    • Gui Xiang (Grace) Yang - Technician