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.
Large duplication in MTM1 associated with myotubular myopathy.
(Mar 2013) Neuromuscular disorders : NMD 23(3):214-8 PMID:23273872
Prenatal diagnostic conundrum involving a novel ATP7A duplication.
(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.
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
(Jul 2011) Journal of human genetics 56(7):516-23 PMID:21593745
Detection of clinically relevant exonic copy-number changes by array CGH.
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
(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.
(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.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
(Dec 2006) Genetics in medicine : official journal of the American College of Medical Genetics 8(12):784-92 PMID:17172942