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conferenceseries.com
October 26-27, 2016 Chicago, USA
Annual Congress on
Rare Diseases & Orphan Drugs
Volume 7, Issue 5 (Suppl) J Genet Syndr Gene Ther
ISSN: 2157-7412 JGSGT, an open access journal Rare Diseases 2016
October 26-27, 2016
The role of clinical genomic testing in treatment discovery for rare neurodevelopmental diseases
Karen S Ho
Lineagen Inc., USA
Genomic testing by high resolution chromosomal microarray (CMA) is the guideline-recommended first tier test for
neurodevelopmental disorders. Widely used in the clinical setting, accurate and informative interpretation of CMA results can
enhance not only the diagnostic understanding of, but also the medical management of, these often rare genetic conditions. We will
present the results of our efforts to bring the power of ultra-high resolution microarray analysis, combined with newly developed
tools and relational databases, to bear on the complex challenges of interpretation of genomic data. Using our custom microarray
optimized for the detection of known critical genomic changes associated with neurodevelopmental disorders, we have performed
over 10,000 consecutive CMAs on a US-based, neurodevelopmentally-affected pediatric population. We detected relevant copy
number variants (CNV) in approximately 30% of this population, a rate which depends on patient age and indication for testing.
A significant proportion (~20%) of these finding were classified as variants of unknown significance (VOUS). We have developed
novel technologies and approaches in partnership with patient support groups and members of the medical and academic research
communities to bring additional interpretative power to bear on these VOUS. As an example of the clinical utility of ultra-high
resolution CMA to map critical genes, we recently reported the identification of a seizure susceptibility candidate region/gene for
Wolf-Hirschhorn Syndrome (WHS). Subsequent work using novel analysis techniques has led to identification of additional genes
potentially related to congenital heart defects and other conditions associated with WHS. Using these strategies, we have correlated
fine-resolution genetic mapping with other rare conditions and predicted potential molecular mechanisms connecting various rare
diseases to one another. This in turn impacts the potential for common pharmacotherapeutic development strategies for previously
unrelated orphan disorders.
Biography
Karen S Ho is a Principal Scientist of Translational Research Initiatives at Lineagen, Inc., where she is working since five years. She holds MSc degree in Genetics
from Cambridge University where she was a Marshall Scholar after graduating summa cum laude from Washington University with a BSc in Biochemistry. She
holds a PhD in Developmental Biology from Stanford University and completed her Postdoctoral training as a Howard Hughes Medical Institute Fellow and National
Sleep Foundation Fellow in the Department of Neuroscience at the University of Pennsylvania. She is also an Assistant Adjunct Professor in the School of Medicine,
Department of Pediatrics at the University of Utah and serves on the Board of two non-profit foundations, and Rare and Undiagnosed Network, both of
which are dedicated to rare disease.
Karen S Ho, J Genet Syndr Gene Ther 2016, 7:5 (Suppl)