at PerkinElmer Genomics, i developed semi-quantitative assays to detect the
presence of analytes (found to only be present in individuals with MPS I & II) from dried blood spots
using LC-MS/MS, which can be run simultaneously as a panel. these markers are virtually undetectable within
the normal population, yielding a larger minimum differential factor and higher confidence in results
compared to traditional tests for MPS. in addition, the tests also allowed for differentiation of psedodeficient
allele variants from pathogenic variants, reducing the number of false positives commonly seen in MPS I testing.
we then began to investigate trends between variant types and MPS marker concentrations, specifically for MPS I, as
we believe it could prove clincally useful in understanding variants of unknown significance, which currently
yield ambiguity in predicting clinical status.
pompe CRIM-status determination
at PerkinElmer Genomics, i developed a qualitative assay to detect the presence of
endogenous acid α-glucosidase (GAA) within human peripheral blood mononuclear cells (PBMCs) isolated from
whole blood using Western blotting. the assay allows for rapid CRIM-status determination in patients with
Pompe disease in order to more quickly initiate immune tolerance induction.
kdm6b 'bump-and-hole' research
as an undergraduate at the University of Pittsburgh, i utilized the ‘bump-and-hole’ method
to develop variants of KDM6B with ‘hole-modified’ active sites which were sensitive to selective inhibition by α-ketoglutarate
engineered with complementary steric ‘bumps’ to help elucidate KDM6B's specific epigenetic function.
