Research

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David T.  Miller, MD, PhD

David Miller
Department:
Medicine Research
Division
Genetics and Genomics Research
Hospital Title:
Clinical Geneticist and Medical Geneticist
Academic Title:
Assistant Professor of Pediatrics, Harvard Medical School
Research Focus Area:
Genetics
Contact Via Email
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Research Overview

We are focused on improving patient care through genetic testing to facilitate better understanding of the molecular causes of genetic syndromes. Our areas of interest include: children with developmental disabilities, especially autism spectrum disorders; neurofibromatosis; and progeroid laminopathies.

Current Projects

Autism
In our clinics, we use chromosomal microarray testing #1 to uncover the underlying genetic changes associated with an increased susceptibility to autism. In a recent study involving the Boston Children's Hospital DNA Diagnostic Laboratory, we have shown that this test identifies three times as many genetic imbalances in autistic children than the existing test--the karyotype. We believe this test should be considered the "gold standard" for genetic diagnosis of children with autism.

16p11.2 deletion

16p. A region of chromosome 16 is found to be deleted in an autistic child by chromosomal microarray testing. Courtesy of Bai-Lin Wu, PhD, and Yiping Shen, MD, PhD

Neurofibromatosis
Our Neurofibromatosis Program, directed by Mira Irons, MD, is the largest in New England, with hundreds of patients cared for in our clinics every year. Through the efforts of Associate Director Nicole Ullrich, MD, PhD, we are participating in a number of multicenter clinical trials for treatment of complications related to neurofibromatosis. We are currently doing an observational study to establish genotype-phenotype correlations to better predict outcomes and better manage the clinical care of patients with this condition.

Progeria
Research studies suggest that the premature aging syndrome progeria results from improper farnesylation of Lamin A. In an international clinical trial led by Mark Kieran MD, PhD, of Children's and the Dana-Farber Cancer Institute, we are determining whether or not a series of medications, including farnesylation inhibitors, bisphosphonates and a statin drug, slow down the unnatural aging process in children suffering from this disease.

To read more about our progeria trials, click here.

About David Miller

David T. Miller, MD, PhD, is a medical geneticist and clinical molecular geneticist at Boston Children's Hospital, and an Assistant Professor of Pediatrics at Harvard Medical School. He received his MD/PhD degree from Washington University in St. Louis. He completed a residency in Pediatrics at Yale-New Haven Hospital, and a residency/fellowship in medical genetics at Harvard Medical School. He is board-certified in Pediatrics, Clinical Genetics and Clinical Molecular Genetics.

Publications

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  1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64.
  2. Miller DT, Shen Y, Harris DJ, Wu BL, Sobeih MM. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2.
  3. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19.
  4. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8.
  5. Miller DT, Shen Y, Wu BL. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Curr Protoc Hum Genet. 2008 Jul; Chapter 8:Unit 8.12.
  6. Miller DT, Shen Y, Wu B-L. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Current Protocols in Human Genetics. 2008.
  7. Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May; 28(2):387-412, x.
  8. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.
  9. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75.
  10. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
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  12. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 1; 143A(15):1679-86.
  13. Miller DT, Ridker PM, Libby P, Kwiatkowski DJ. Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-99.
  14. Suk Danik J, Chasman DI, Cannon CP, Miller DT, Zee RY, Kozlowski P, Kwiatkowski DJ, Ridker PM. Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia. Ann Hum Genet. 2006 Nov; 70(Pt 6):705-16.
  15. Hersh CP, Miller DT, Kwiatkowski DJ, Silverman EK. Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62.
  16. Kozlowski P, Miller DT, Zee RY, Danik JS, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. Ann Hum Genet. 2006 Sep; 70(Pt 5):574-86.
  17. Miller DT, Zee RY, Suk Danik J, Kozlowski P, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38.
  18. Suk J, Miller DT, Zee R. . Genetics of C-Reactive Protein. CRP: Atherothrombosis and Cardiovascular Risk. P. M. Ridker and N. Rifai, eds. 2005.
  19. Miller DT, Ment LR. Case report: a young boy with painful leg swelling. Curr Opin Pediatr. 2002 Dec; 14(6):731-4.
  20. Miller DT, Read R, Rusconi J, Cagan RL. The Drosophila primo locus encodes two low-molecular-weight tyrosine phosphatases. Gene. 2000 Feb 8; 243(1-2):1-9.
  21. Spencer SA, Powell PA, Miller DT, Cagan RL. Regulation of EGF receptor signaling establishes pattern across the developing Drosophila retina. Development. 1998 Dec; 125(23):4777-90.
  22. Miller DT, Cagan RL. Local induction of patterning and programmed cell death in the developing Drosophila retina. Development. 1998 Jun; 125(12):2327-35.
  23. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41.
  24. Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL. SLC26A4 c.919-2A&gtG varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008 Aug; 10(8):586-92.
  25. Schaumberg DA, Christen WG, Kozlowski P, Miller DT, Ridker PM, Zee RY. A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006 Jun; 47(6):2336-40.
  26. Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9.
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