Eli Hatchwell, MB, DPhil, Associate Professor of Research Pathology

Eli Hatchwell, MA MB BChir (Cantab) BA (OU) DPhil (Oxon) [MD PhD]
Director of the Genomics Core Facility
Associate Professor, Pathology
Stony Brook University Medical Center
HSC-T8, Room 053
Stony Brook, NY 11794-8088

Tel: 631-444-1206
Fax: 631-444-3129
E-mail:  eli.hatchwell@stonybrook.edu

Genomics Core Facility

Education:

Postdoctoral Training:

Research Summary:

Dr. Hatchwell is a Medical Geneticist and Molecular Genetics scientist who studies a variety of childhood disorders, including Autism Spectrum Disorders, Congenital Heart Disease and a number of lesser known but important conditions. He was among the first to discover the phenomenon of copy number variation in normal human beings, and specializes in the use of copy number variation for his study of human genetic disorders. In addition to running his own research program, he is Director of the newly created Genomics Core Facility at Stony Brook University and, as well as overseeing extant technologies (Affymetrix Microarray and Sequencing Cores), he has been instrumental in bringing in new techniques for the use of the faculty at Stony Brook, including high resolution melt analysis, MLPA and aCGH for copy number analysis. He also collaborates with and advises many faculty members who are embarking on genetics/genomics projects in their own field of interest.

Selected Recent Publications: (from a total of 40)

Jasmin Roohi, Michael Cammer, Cristina Montagna, Eli Hatchwell. An Improved Method for Generating BAC DNA Suitable for FISH. Cytogenet Genome Res. (in press).

Susan L. Christian, Camille W. Brune, Jyotsna Sudi, Ravinesh A. Kumar, Shaung Liu, Samer Karamohammed, Judith A. Badner, Jeffrey Conroy, Devin McQuaid, Eli Hatchwell, Conrad Gilliam, Elliot S. Gershon, Norma Nowak, William B. Dobyns, Edwin H. Cook, Jr. (2007) 24 copy number variants identified in 180 probands with autism spectrum disorder using a novel 19K whole genome tiling path BAC microarray. Biological Psychiatry (in press).

Hatchwell E, Greally JM. The potential role of epigenomic dysregulation in complex human disease. Trends Genet. 2007 Nov;23(11):588-95. Epub 2007 Oct 22.

Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clin Genet. 2007 Jul;72(1):47-58.

Lee WA, Pernodet N, Li B, Lin CH, Hatchwell E, Rafailovich MH. Multicomponent polymer coating to block photocatalytic activity of TiO(2) nanoparticles. Chem Commun (Camb). 2007 Dec 7;(45):4815-7. Epub 2007 Sep 12.

E. Hatchwell, D. H. Tegay, C. Wang, J. E. O'Brien, W. Allen, T. Tan, S. Prucka, M. J. Pettenati, C. Montagna, N. J. Nowak, H. V. Toriello (2007) Genetic dissection using a novel whole genome tiling path BAC array reveals dramatic heterogeneity in Toriello-Carey Syndrome, including a novel microdeletion syndrome at 22q12. Cellular Oncology, Volume 29, Number 2, P30.

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. (2007) Smith-Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1). Am J Med Genet A May 1;143(9):999-1008.

Tegay DH, Lane AH, Roohi J, Hatchwell E. (2007) Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. American Journal of Medical Genetics A. Mar 15;143(6):594-8.

MAQC Consortium; Shi L, Reid LH, Jones WD, Shippy R, Warrington JA, Baker SC, Collins PJ, de Longueville F, Kawasaki ES, Lee KY, Luo Y, Sun YA, Willey JC, Setterquist RA, Fischer GM, Tong W, Dragan YP, Dix DJ, Frueh FW, Goodsaid FM, Herman D, Jensen RV, Johnson CD, Lobenhofer EK, Puri RK, Schrf U, Thierry-Mieg J, Wang C, Wilson M, Wolber PK, Zhang L, Amur S, Bao W, Barbacioru CC, Lucas AB, Bertholet V, Boysen C, Bromley B, Brown D, Brunner A, Canales R, Cao XM, Cebula TA, Chen JJ, Cheng J, Chu TM, Chudin E, Corson J, Corton JC, Croner LJ, Davies C, Davison TS, Delenstarr G, Deng X, Dorris D, Eklund AC, Fan XH, Fang H, Fulmer-Smentek S, Fuscoe JC, Gallagher K, Ge W, Guo L, Guo X, Hager J, Haje PK, Han J, Han T, Harbottle HC, Harris SC, Hatchwell E, Hauser CA, Hester S, Hong H, Hurban P, Jackson SA, Ji H, Knight CR, Kuo WP, LeClerc JE, Levy S, Li QZ, Liu C, Liu Y, Lombardi MJ, Ma Y, Magnuson SR, Maqsodi B, McDaniel T, Mei N, Myklebost O, Ning B, Novoradovskaya N, Orr MS, Osborn TW, Papallo A, Patterson TA, Perkins RG, Peters EH, Peterson R, Philips KL, Pine PS, Pusztai L, Qian F, Ren H, Rosen M, Rosenzweig BA, Samaha RR, Schena M, Schroth GP, Shchegrova S, Smith DD, Staedtler F, Su Z, Sun H, Szallasi Z, Tezak Z, Thierry-Mieg D, Thompson KL, Tikhonova I, Turpaz Y, Vallanat B, Van C, Walker SJ, Wang SJ, Wang Y, Wolfinger R, Wong A, Wu J, Xiao C, Xie Q, Xu J, Yang W, Zhang L, Zhong S, Zong Y, Slikker W Jr. (2006) The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements.  Nature Biotechnology Sep;24(9):1151-61.

Khulan B, Thompson RF, Ye K, Fazzari MJ, Suzuki M, Stasiek E, Figueroa ME, Glass JL, Chen Q, Montagna C, Hatchwell E, Selzer RR, Richmond TA, Green RD, Melnick A, Greally JM. (2006) Comparative isoschizomer profiling of cytosine methylation: the HELP assay. Genome Research Aug;16(8):1046-55. Epub 2006 Jun 29.

Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG, Cremer L, Hatchwell E. (2006) Autism and environmental genomics. Neurotoxicology Sep;27(5):671-84. Epub 2006 Mar 28. Review. (This paper was number one on the list of the 25 ‘hottest’ articles from Neurotoxicology in the period Jan-Mar 2007, as judged by Science Direct!)

Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N. (2004) Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. Journal of Medical Genetics  Feb;41(2):130-136.