Penelope H. Isabella, Ph.D., HCLD (ABB)

CONTACT INFORMATION

Office 402-***-**** Cell 913-***-**** penelope_isabella@

yahoo.com

SIGNIFICANT ACCOMPLISHMENTS

-Discovered the first 75 mutations causing X-linked chronic granulomatous

disease (CGD)

-Discovered a new pseudogene for p47-phox, one of the autosomal CGD

subunit genes

-Developed a prenatal diagnosis assay for X-linked CGD

-Invented more sensitive single-strand conformation polymorphism method,

dideoxy SSCP

-Designed and validated over 300 SNP, STR and indel assays for clinical

trial use

-Patent for CYP2D6*10 tandem duplication copy number sequencing-based

assay

AREAS OF EXPERTISE

-Design and validation of human molecular genetics diagnostic assays:

RT-PCR, qPCR, capillary sequencing and Taqman as well as many IVD

platforms

-Management of high-throughput microsatellite and Taqman genotyping

facilities

-Management of genome scans and disease association study DNA collections

and data

-Set-up and management of GLP, CLIA and CAP laboratories for clinical

genotyping

-CAP Molecular Diagnostics laboratory inspector

-Population screening for mutation and SNP discovery by ddSSCP and

sequencing

-Genetic testing instrument and software assessment and design

AREAS OF INTEREST

-Pharmacogenetics of oncologic chemotherapeutic efficacy

-Bioinformatics - next generation sequence and microarray data analyses

PROFESSIONAL POSITIONS IN INDUSTRY

Since 2007 Technical Director of Molecular Diagnostics Laboratory

Nebraska Methodist Health System, Methodist Hospital, Omaha, NE

2004 - 2006 Director of Molecular Diagnostics, Clinical Reference

Laboratory, Lenexa, KS

2002 - 2003 Senior Staff Scientist, Advanced Technologies, Nanogen,

Inc., San Diego, CA

1996 - 2001 Associate Director, Research Genotyping, DNA Sciences

Laboratories,

Inc., La Jolla, CA

EDUCATION

Postdoctoral Fellow, Gene Therapy, San Diego Regional Cancer Center, San

Diego, CA.

Postdoctoral Fellow, Department of Molecular and Experimental Medicine

The Scripps Research Institute, La Jolla, CA.

Postdoctoral Fellow, Center for Molecular Genetics

University of California - San Diego, La Jolla, CA.

Ph.D. in Human Molecular Genetics, University of Michigan, Ann Arbor, MI

M.S. in Human Genetics, University of Michigan, Ann Arbor, MI

M.A. in Physical Anthropology, University of Michigan, Ann Arbor, MI

B.S. in Biology, Oakland University; Departmental Honors and Commendation

B.A. in Chemistry, Oakland University, Rochester, MI

MILITARY VETERAN

PUBLICATIONS

Over 30 publications in peer-reviewed journals. PubMed search hopkins

pj[auth].

Contact this candidate