Human genetic variation
SNP and microsatellite assay design and validation
I have considerable knowledge of GLP, CLIA and CAP regulatory requirements for clinical laboratories.
Techniques Penelope Isabella Uses:
Most of the ideas come from working in the lab, such as using current instrumentation and reagents for doing something new.
I use many online bioinformatics tools when designing assays.
I read the literature to see what others have done and sometimes combine ideas from different papers to solve a problem.
Penelope Isabella's Problem Solving Skills:
management of high-throughput SNP and microsatellite association studies
pharmacogenetic assay design and validation
molecular diagnostic assay design and validation
high-complexity clinical laboratory director
human molecular genetics
Penelope Isabella's Problem Solving Experience:
I am part of a group which has a patent on an assay to identify CYP2D6*10, a polymorphism for poor metabolizers in Asian populations.
I sequenced the Macaca nemestrina carbonic anhydrase I gene which turned out to be the first example of tissue-specific alternative first exons in a primate.
I designed and validated over 300 SNP Taqman assays in pharmacogenetically relevant genes.
I developed a prenatal diagnostic test for X-linked chronic granulomatous disease using ddSSCP, dideoxy single strand conformation polymorphism method. I developed the method myself but then someone else published first.
I found the first 75 mutations causing X-linked for chronic granulomatous disease.
I worked on a team which developed a PCR instrument and assays for bio-warfare agents to be used in the battlefield.