Our lab focuses on the rapid translation of new genetic discoveries and innovative technological advancements into clinical tests that can be used to enhance therapeutics and patient treatment strategies, to support the integration of genetics and genomics into clinical practice.
My research interests relate to the molecular genetics of endocrine disorders with a focus on monogenic disorders of insulin secretion, such as monogenic forms of diabetes, congenital hyperinsulinism and familial forms of lipodystrophy. Our laboratory has been a leader in developing diagnostics for monogenic disorders of insulin secretion, launching the first tests for monogenic diabetes in 2013 and continuously expanding and refining these panels as new genes and phenotypes are identified. As an extension of this work, I have branched out in other endocrine disorders with a monogenic etiology, including obesity and disorders of sex development and differentiation. We are using an integrated approach using targeted next-generation sequencing panels, exome sequencing and microarray analyses to determine the molecular basis of these diseases, with the ultimate goal to develop better diagnostic tools and more effective personalized therapeutic approaches. I also direct the Clinical Molecular Genetics training program at the University of Chicago.
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, Li Z, Johnson AK, Kobiernicki F, Botes S, Fitzpatrick C, Das S, Del Gaudio D
(2016 Feb) J Pediatr Endocrinol Metab. 2016 Feb 19. pii: /j/jpem.ahead-of-print/jpem-2015-0341/jpem-2015-0341.xml. doi: 10.1515/jpem-2015-0341. 26894574
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJ, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S
(2015 Feb) Clin Genet. 2015 Feb 19. doi: 10.1111/cge.12575. 25693842
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SA, del Gaudio D
(2014 Dec) Mol Genet Metab. 2014 Dec;113(4):315-20. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28. 25306193 (Full Text)
Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S
(2014 Apr) Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13. 23611254
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D
(2014 Mar) Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14. 24689074 (Full Text)
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D
(2014 Mar) Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27. 24378232
Prenatal diagnostic conundrum involving a novel ATP7A duplication.
Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG
(2013 Jul) Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14. 23151012 (Full Text)
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D
(2011 Jul) J Hum Genet. 2011 Jul;56(7):516-23. doi: 10.1038/jhg.2011.51. Epub 2011 May 19. 21593745
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D
(2009 Sep) Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16. 19449031
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM
(2008 Sep) Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841. 18752307
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL
(2008 Jun) Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25. 18500341 (Full Text)
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB
(2006 Dec) Genet Med. 2006 Dec;8(12):784-92. 17172942