Darrell Dinwiddie, PhD

Assistant Professor, Department of PediatricsDarrell Dinwiddie
Scholar, Clinical Translational Science Center

Office: CTSC 3145D
Lab: CTSC 3260
Tel:  505-272-5703
Email:  dldinwiddie@salud.unm.edu

The research focus of my lab is to use genomic medicine (a structured approach to disease diagnosis and management that prominently features next-generation sequencing and analysis at a genome scale) to diagnose, discover, and investigate rare monogenic genetic disorders and to apply genomics to understand immune-mediated disorders. 

Rare Genetic Diseases

My research has primarily focused on the development, validation, and analysis of clinical next-generation sequencing tests for the diagnosis of rare, monogenic, childhood disorders and implementation of research based tests to discover novel causes of genetic conditions.  From 2011 to 2013 as the Director of Lab Operations for the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital & Clinics in Kansas City, MO my responsibilities included lead and manage the design, development, and deployment of sequence production workflows and quality control systems in support of the Center’s operations to develop next generation sequencing based clinical tests. While at the Children’s Mercy Hospital, my research contributed to enhancing the diagnostic capabilities of genomic testing for infants displaying symptoms of monogenetic (or rare) genetic diseases.  I was part of the team that developed and validated a clinical next-generation sequencing diagnostic test that targets 552 genes known to cause rare childhood-onset disease. The test has subsequently been licensed by Illumina®. In addition, I was also a co-first author of a proof of principle study published in Science Translational Medicine that demonstrated the feasibility of 50 hour whole genome sequencing and analysis in the neonatal intensive care unit at Children’s Mercy Hospital to assist in the diagnosis of rare diseases.  This research was featured in the New York Times and TIME as being one of the first promising clinical uses of genomic medicine.  At the University of New Mexico my lab will continue to push next-generation sequencing into the clinic to investigate rare genetic disorders. 


My lab also uses genomics to research and understand immune function in humans. Current studies include investigating the cause of primary immunodeficiencies, and investigating the role of genetics in the susceptibility to and clearance of infections, and the development and progression of immune-mediated disorders, such as inflammatory bowel disease.  My lab uses exome and genome sequencing to discover the genetic cause of novel and atypical primary immunodeficiencies.  For example, we were able to discover mutations in the gene PLDN as a cause of a Hermansky-Pudlak-like primary immunodeficiency syndrome and a described in one family how combined mutations in two genes, DOCK8 and CLEC7A produced an atypical immunodeficiency.  Additional studies in my lab are investigating the role of genetics in the susceptibility to and progression of sepsis and the childhood onset inflammatory bowel disease.

Selected Publications

Dinwiddie, DL, Bracken, J, Bass, J, Christenson, K, Soden, SE, Saunders, CJ, Miller, NA, Roberts CC, Dalal, J, Kingsmore, SF. Molecular Diagnosis of Infantile Onset Inflammatory Bowel Disease by Exome Sequencing, Genomics, 2013 Aug 31. doi:pii: S0888-7543(13)00180-8. 10.1016/j.ygeno.2013.08.008.

Saunders, CJ*, Miller, NA*, Soden, SE*, Dinwiddie, DL*, Noll, A, Alnadi, NA, Andraws, N, Patterson, ML,  Krivohlavek, LA, Fellis, J, Humphray, S, Saffrey, P, Kingsbury, Z, Weir, JC, Betley, J, Grocock, RJ, Margulies, E, Farrow, EG, Artman, M, Safina, NP, Petrikin, JE, Hall, KP, Kingsmore, SF. Rapid whole genome sequencing for monogenic disease diagnosis in neonatal intensive care units. Science Translational Medicine, 2012 Oct 3;4(154):154ra135. PMID: 23035047. *Authors contributed equally.

Bell, CJ*, Dinwiddie, DL*, Miller, NA, Hateley, SL, Ganusova, EE, Mudge, J, Langley, RJ, Zhang, L, Lee, CC, Schilkey, FD, Woodward, J, Peckham, HE, Schroth, GP, Kim, R, & Kingsmore, SF. Comprehensive carrier testing for severe childhood recessive diseases by next generation sequencing. Science Translational Medicine, 2011 Jan 12;3(65):65ra4. PMID: 21228398. *Authors contributed equally.

Dinwiddie, DL, Kingsmore, SF, Caracciolo, S, Rossi, G, Moratto, D, Mazza, C, Sabell,i C, Magri, C, Bell, CJ, Miller, NA, Hateley, SL, Saunders, CJ, Zhang, L, Schroth, GP, Barlati, S,  Badolato, R. Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections. Journal of Allergy and Clinical Immunology, 2013 Feb;131(2):594-597. PMID: 23374272.

Dinwiddie, DL*, Smith, LD *, Miller, NA, Atherton, AD, Farrow, EG, Strenk, ME, Soden, SE, Saunders, CJ, Kingsmore, SF. Diagnosis of Mitochondrial Disorders by Concomitant Next-Generation Sequencing of the Exome and Mitochondrial Genome. Genomics, 2013 Apr 27. [Epub ahead of print]. PMID: 23631824. *Authors contributed equally.

Badolato, R, Prandini, A, Caracciolo, S, Colombo, F, Tabellini, G, Giacomelli, M, Cantarini, ME, Pession, A, Bell, CJ, Dinwiddie, DL, Miller, NA, Hateley, SL, Saunders, CJ, Zhang, L, Schroth, GP, Plebani, A, Parolini, S, Kingsmore, SF. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood, 2012, Mar 29;119(13):3185-7. PMID:22461475.

Dinwiddie, DL, Saunders, CJ, Farrow, EG, Soden, SE, Miller, NA, Kingsmore, SF. Structured genome-scale variant and clinical data reporting for meta-analysis in an era of genomic medicine. Journal of Genomes and Exomes, 2013:2 31-42.

Langley, RJ­*, Tsalik, EL*, van Velkinburgh, JC*, Glickman, SW,  Rice, BJ, Wang, C, Chen, B, Carin, L, Suarez, A, Mohney, RP, Freeman, DH, Wang, M, You, J, Wulff, J, Thompson, JW, Mosely, MA, Reisinger, S, Edmonds, BT, Grinell, B, Nelson, DR, Dinwiddie, DL, Miller, NA, Saunders, CJ, Soden, SE, Rogers, J, Gazourian L, Fredenburgh, LE, Massaro, AF, Baron, RM, Choi, AMK,  Corey, GR, Ginsburg, GS, Cairns, CB, Otero, RM, Corey, RC, Fowler, VG, Rivers, EP, Woods, CW, & Kingsmore, SF. An integrated clinico-metabolomic model improves prediction of death in sepsis. Science Translational Medicine, (in press). *Authors contributed equally.

Dinwiddie, DL, Miller, NA, Saunders, CJ, Soden, SE, Farrow, EG, Hobson, GM, Kingsmore, SF. Exome sequencing reveals cause of hypomyelinating leukodystrophy. Journal of Genomes and Exomes, 2012:1, 7–14.

Kingsmore, SF, Lantos, JD, Dinwiddie, DL, Miller, NA, Soden, SE, Saunders, CJ. Next-generation community genetics for low- and middle-income countries. Genome Medicine, 2012, Mar 29;4(3):25. PMID:22458566.

Kingsmore, SF, Dinwiddie, DL, Miller, NA, Soden, SJ, Saunders, CJ for the Children’s Mercy Genomic Medicine Team. Adopting Orphans: Comprehensive Genetic Testing of Mendelian Diseases of Childhood by Next-Generation Sequencing. Expert Reviews in Molecular Diagnostics. 2011 Nov;11(8):855-68. PMID: 22022947.

Smith, LD, Saunders, CJ, Dinwiddie, DL, Atherton, AD, Miller, NA Soden, SE, Farrow, EG, Abdelmoity, A, Kingsmore, SF. Exome sequencing reveals de novo germline mutation of the mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures, Journal of Genomes and Exomes, (in press).

Soden, SE*, Saunders, CJ*, Dinwiddie, DL*, Miller, NA, Atherton, AM, Abu Alnadi, N, Leeder, JS, Smith, LD, Kingsmore, SF. A systematic approach to implementing monogenic genomic medicine: Genotype-driven diagnosis of genetic diseases. Journal of Genomes and Exomes, 2012:1 15–24. *Authors contributed equally.

Lamour, KH, Mudge, J, Gobena, D, Hurtado-Gonzales, OP, Schmutz, J, Kuo, A, Miller, NA, Rice, BJ, Raffaele, S, Cano, L, Bharti, AK, Donahoo, RS, Finley, S,  Huitema, E, Hulvey, J, Platt, D, Salamov, A, Savidor, A,  Sharma, R, Stam, R, Storey, D, Thines, M, Win, J, Haas, BJ, Dinwiddie, DL, Knight, JR,  Affourtit, JP, Han, CS, Chertkov, O, Lindquist, EA, Detter, C, Grigoriev, IV, Kamoun, S, Kingsmore, SF. Loss of heterozygosity drives rapid adaptation in the vegetable pathogen Phytophthora capsici. Molecular Plant-Microbe Interactions, 2012 Oct;25(10):1350-60. PMID: 22712506.

Jie, Z, Dinwiddie, DL, Senft, AP, & Harrod, KS. Regulation of STAT signaling in mouse bone marrow derived dendritic cells by respiratory syncytial virus, Virus Research, 2011 Jan 19. [Epub ahead of print]. PMID: 21255624.

Li, Y, Dinwiddie, DL, Harrod, KS, Jiang, Y, & Kim, KC. Anti-inflammatory effect of MUC1 during respiratory syncytial virus infection of lung epithelial cells in vitro. American Journal of Physiology, Lung Cellular and Molecular Physiology, 2010 Apr;298(4):L558-63. Epub 2010 Jan 15. PMID: 20081068. PMCID: PMC2853342.

Dinwiddie, DL & Harrod, KS. Human Metapneumovirus Inhibits IFN-a signaling through inhibition of the phosphorylation of STAT1. American Journal of Respiratory Cell and Molecular Biology, 2008 Jun;38(6):661-70. Epub 2008 Jan 24. PMID: 18218993.