Eli Hatchwell, MD, PhD, Associate Professor of Research Pathology

Eli Hatchwell, MA MB BChir (Cantab) BA (OU) DPhil (Oxon) [MD PhD]
Director of the Genomics Core Facility and
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:

Professional Positions:

Awards and Honors:

• NIH STUDY SECTIONS:

NIH Shared Instrumentation Grant Review (ZRG1 GGG-E 31 P) November 9-10, 2009

NCI TCGA Centers Review June 30-July 1, 2009

NIH Genes, Genomes and Genetics cluster. Mail reviewer for Challenge Grant applications – May – June 2009.

NCI Genome Technology Review, November 2006

• NIH WORKSHOPS (INVITED):

Proteus Syndrome Skeletal Biology Workshop September 26-28, 2007. Organized by the National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI) and the Children’s National Medical Center on behalf of the Office of Rare Diseases Research and the Society for Bone and Mineral Research.

Workshop on Comparative Genome Hybridization (CGH), May 27, 2003. Speaker(s)/Group: Donna Albertson, UCSF; Kristin Baird, NHGRI; Cameron Brennan, Dana Farber Cancer Institute; Eli Hatchwell, Cold Spring Harbor Lab; Olli Kallioniemi, VTT Technical Research Center; Javed Khan, NCI; Norma Nowak, Roswell Park Cancer Institute; Daniel Pinkel, UCSF; Thomas Ried, NCI; Michael Wigler, Cold Spring Harbor Lab. Sponsored by: Genetics, Genomics and Proteomics Faculty, NIH.

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, Pyrosequencing and Luminex Bead Technology. 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 50):

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.

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!)

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.

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.

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.

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.

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, 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. This paper was widely reported in the media as a way of making nanoparticles in sunscreens safe (e.g., http://www.rsc.org/Publishing/ChemScience/Volume/2007/11/nanoparticles_s...).

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.

Toriello HV, Hatchwell E. (2008) Toriello-Carey syndrome phenotype and chromosome anomalies. Am J Med Genet A. Jan 1;146(1):116.

Roohi J, Montagna C, Tegay DH, Palmer LE, Devincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E. Disruption of Contactin 4 in 3 Subjects with Autism Spectrum Disorder. J Med Genet. 2008 Mar 18. [Epub ahead of print]. This paper was widely reported in the media as a significant advance in Autism research (e.g., http://www.reuters.com/article/healthNews/idUSN1822054420080318).

Roohi J, Tegay DH, Pomeroy JC, Burkett S, Stone G, Stanyon R, Hatchwell E. A de novo Apparently Balanced Translocation [46,XY,t(2;9)(p13;p24)] Interrupting RAB11FIP5 Identifies a New Candidate Gene for Autism Spectrum Disorder. Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 2. [Epub ahead of print].

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cookjr EH. Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder. Biol Psychiatry. 2008 Mar 26. [Epub ahead of print].

Roohi J, Cammer M, Montagna C, Hatchwell E. An Improved Method for Generating BAC DNA Suitable for FISH. Cytogenet Genome Res. 2008;121(1):7-9. Epub 2008 May 7.

Eli Hatchwell. ATROUBLESHOOTING GUIDE: EXPERTS SHARE THEIR ADVICE ON PERFORMING ARRAYCOMPARATIVE GENOMIC HYBRIDIZATION GENOME TECHNOLOGY. Array CGH Tech Guide. Genome Technology, September 2008.

Zhi J, Hatchwell E. Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays. BMC Genomics. 2008 Sep 10;9:407. This paper presents a method for MLPA design, which is notoriously difficult and often considered a major stumbling block for new assays. It is available for use by academics at: http://genomics01.arcan.stonybrook.edu/mlpa/cgi-bin/mlpa.cgi. This paper has been cited as highly accessed by BioMed Central.

Gadow KD, Roohi J, DeVincent CJ, Hatchwell E. Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder. J Child Psychol Psychiatry. 2008 Dec;49(12):1331-8.

Roohi J, Devincent CJ, Hatchwell E, Gadow KD. Association of a Monoamine Oxidase-A Gene Promoter Polymorphism With ADHD and Anxiety in Boys With Autism Spectrum Disorder. J Autism Dev Disord. 2009 Jan;39(1):67-74. Epub 2008 Jun 20

Hajcak G, Castille C, Olvet DM, Dunning JP, Roohi J, Hatchwell E. Genetic variation in brain-derived neurotrophic factor and human fear conditioning. Genes Brain Behav. 2009 Feb;8(1):80-5.

Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Clin Genet. 2009 Mar;75(3):259-64.

Oda M, Glass JL, Thompson RF, Mo Y, Olivier EN, Figueroa ME, Selzer RR, Richmond TA, Zhang X, Dannenberg L, Green RD, Melnick A, Hatchwell E, Bouhassira EE, Verma A, Suzuki M, Greally JM. High-resolution genome-wide cytosine methylation profiling with simultaneous copy number analysis and optimization for limited cell numbers. Nucleic Acids Res. 2009 Apr 22. [Epub ahead of print]

Gadow KD, Roohi J, Devincent CJ, Kirsch S, Hatchwell E. Association of COMT (Val158Met) and BDNF (Val66Met) Gene Polymorphisms with Anxiety, ADHD and Tics in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2009 Jul 7. [Epub ahead of print].

Williams SR, Girirajan S, Tegay D, Nowak NJ, Hatchwell E, Elsea SH. Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet. 2009 Sep 14. [Epub ahead of print] PubMed PMID: 19752160.

Stephen R. Williams, Sureni V. Mullegama, Jill A. Rosenfeld, Aditi I. Dagli, Eli Hatchwell, William P. Allen, Charles A. Williams, and Sarah H. Elsea. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet. 2009 Nov 11. [Advance Online Publication].

Eli Hatchwell. BAK1 Gene Variation and Abdominal Aortic Aneurysms – Variants are likely due to sequencing of a processed gene on chromosome 20. Hum Mutat. 2009 Oct 21. [Advance Online Publication].

Mulligan, Elizabeth; Hatchwell, Eli; McCorkle, Sean; Dunn, John. Differential binding of Escherichia coli McrA protein to DNA sequences that contain the dinucleotide m5CpG. Nucleic Acids Res. 2009 Dec 16. [Epub ahead of print]