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

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

(Mar 2013) Neuromuscular disorders : NMD 23(3):214-8 PMID:23273872

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

Schoonveld C, Donsante A, Del Gaudio D, Waggoner D, Das S, Kaler S

(Nov 2012) Clinical genetics PMID:23151012

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 medical genetics 13:71 PMID: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

(Jul 2011) Journal of human genetics 56(7):516-23 PMID: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

(Dec 2010) Human mutation 31(12):1326-42 PMID: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, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T

(Mar 2010) American journal of medical genetics. Part A 152A(3):573-81 PMID: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

(Sep 2009) Human genetics 126(3):411-23 PMID: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

(Sep 2008) Human mutation 29(9):1100-7 PMID: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

(Jun 2008) Nature genetics 40(6):719-21 PMID: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

(Dec 2006) Genetics in medicine : official journal of the American College of Medical Genetics 8(12):784-92 PMID:17172942