Daniela Del Gaudio, Ph.D.
Assistant Professor, Department of Human Genetics
Associate Director, Clinical Molecular Genetics Laboratory
Ph.D. University Naples, Italy, 2004
B.Sc. University Naples, Italy, 1999
Phone: (773) 834-0555
Fax: (773) 834-5337

Research Description

My interests are primarily focused towards translational medicine, specifically the application of novel molecular approaches to the diagnosis of genetic disorders. To this end, my past interest at Baylor College of Medicine has been mainly focused toward the development of exon-targeted microarrays for the detection of copy number variations (CNVs) in genes specifically involved in neurodevelopmental disorders or known to infer a higher risk of inherited cancers.  Here at the University of Chicago Genetics Services Laboratory, I contributed to the implementation and validation of an exon-targeted oligo-microarray to identify CNVs in genes involved in orphan genetic diseases. The availability of this platform, along with traditional sequence analysis, provides patients with comprehensive mutation analysis and also helps us elucidating the frequency of CNVs in these diseases. The use of high resolution microarrays also enables to precisely define the size of an imbalance allowing the sequences at the breakpoints to be investigated and ultimately infer mechanism through which CNVs arise.

In the future, I plan to explore the molecular diagnosis of monogenic diabetes using next-generation sequencing (NGS). Mutations in approximately 20 different genes are now known to cause monogenic diabetes, including maturity-onset diabetes of the young, neonatal diabetes and mitochondrial diabetes. Unlike other types of diabetes, monogenic diabetes is caused by a defect in a single gene and can often be treated with oral medications rather than life-long insulin therapy, making it a model of personalized medicine.  Developing a NGS protocol for genetic testing for monogenic forms of diabetes will allow a more comprehensive, cost-efficient and rapid method of diagnosis leading to quicker and more effective treatment.

Selected Publications

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA
(2014 Apr) Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23. 24458983

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)

Large duplication in MTM1 associated with myotubular myopathy.
Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ
(2013 Mar) Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28. 23273872 (Full Text)

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW
(2012) BMC Med Genet. 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71. 22883432 (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

Detection of clinically relevant exonic copy-number changes by array CGH.
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P
(2010 Dec) Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. 20848651 (Full Text)

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T
(2010 Mar) Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253. 20186804 (Full Text)

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