Problem Solver

Penelope Isabella

Areas Penelope Isabella is Knowledgeable in:

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:

  1. management of high-throughput SNP and microsatellite association studies
  2. pharmacogenetic assay design and validation
  3. molecular diagnostic assay design and validation
  4. high-complexity clinical laboratory director
  5. human molecular genetics

Penelope Isabella's Problem Solving Experience:

  1. 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.
  2. 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.
  3. I designed and validated over 300 SNP Taqman assays in pharmacogenetically relevant genes.
  4. 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.
  5. I found the first 75 mutations causing X-linked for chronic granulomatous disease.
  6. I worked on a team which developed a PCR instrument and assays for bio-warfare agents to be used in the battlefield.