Research Associate Manager

Cristina Amat di San Filippo, MS.

**** ********* ***, **** **** City, Utah 84106, 801-***-****, acsx68@r.postjobfree.com Qualifications Summary

Dedicated and hardworking Scientist with over 10 years of laboratory experience in molecular biology. Very resourceful and creative in solving a wide range of problems, working independently as well as in a dynamic team environment. High level of expertise and functional skills that allow me to switch between diverse assignments easily and efficiently. Skills

RNA, RT-PCR, Northern blot, multiplexed qRT-PCR

analysis, TaqMan® and SYBR® chemistry

Western Blot, ELISA

Genetic polymorphisms identification and expression Developed, modified and performed new and established experimental protocols and techniques in the laboratory. Analyzed experimental data, interpreted results,

troubleshoot, and implemented the design of follow-up experiments.

Calculated and Graphed Statistical Data

Proficient in the isolation, production, maintenance and cryopreservation of numerous cell lines (primary and immortalized

Responsible for all aspects of bacteria cultures

Molecular cloning; vector/insert restriction enzyme digest; ligation; transformation;

Laboratory safety BL2/BL3 and radioactive material Performed data analyses and maintenance of a detailed laboratory notebook

Created graphical representations and written reports Drafted and submitted scientific manuscripts for publication and seminar presentations.

Experience

2009 to Present: Sr.Research Associate, University of Utah-Moran Eye Center, Gregory Hageman Lab Studied the role of HTRA1 in age-related macular degeneration (AMD). Performed qRT-PCR analysis on human donor tissue to examine the expression levels of HTRA1 in donors with or without genetic risk for AMD

Processed human donor eye tissue for gene expression and imaging studies. Treated several cells lines with chemical agents to examine the effect on gene expression in multiple genes Developed a PCR-based assay to measure allele-specific gene expression. 2001 to 2009: Research Associate, University of Utah Department of Pediatrics. Nicola Longo Lab Led research to study the role of the carnitine transporter in human disease Accomplished all the Aims required for the NIH/NIDDK Type: RO1 DK 53824 and allowed the laboratory to apply for the renewal of the grant

Led research project involving the role of OCTN: in human heart disease Identified OCTN2 polymorphisms in association with cardiomyopathy and correlation with loss of function of carnitine transporter OCTN2.

Developed a test to identify OCTN2 variants using High Resolution Melter HR-1 in collaboration with Idaho Technology,Inc

Developed a clinical test to diagnose CACT deficiency and primary carnitine deficiency in human fibroblast in human fibroblast (those tests are now offered commercially ARUP Laboratories.) Identified, expressed and validated polymorphisms in OCTN2 causing primary carnitine deficiency. Solely responsible for all the research aspects of: Project: The carnitine transporter in human disease. Identified more than 50 novel mutations in OCTN2, those were validated identifying protein domains and protein functionality including kinetics of substrates and using microscopy imaging Funding from: AHA Grant and. NIH/NIDDK

2000-2001 Post-Doctoral Fellow, Emory University Department of Pediatrics. Raymond F. Schinazi Lab. Generated a panel of HIV variants by site-directed mutagenesis in pNL4-3 background HIV MDR variants that were tested for growth fitness, drug susceptibility also HIV MDR variants from clinical isolates, and the processivity of altered RT. (R01 AI47726-02)

Expressed and purified recombinant HIV-1 viral Reverse Transcriptase protein, such as and Integrase. Optimized and validated viral enzymatic assays

Project: Analysis of mutations in HBV clinical isolates after therapy failure Selected drug-resistant viruses: HIV and HBV in presence of novel antiviral drugs 1996-2000 Research Scholar Internship University of Cagliari Division Microbiology Paolo La Colla Lab. Developed optimization and validation of viral and antitumor assays for activity of novel non-nucleoside reverse transcriptase

inhibitors, Structure-based design, synthesis, and biological evaluation of novel compounds: HIV-1 nonnucleoside reverse transcriptase inhibitors active at nanomolar concentrations. Education

Degree in Biological Science, University of Cagliari, graduate 110/110 Summa Cum Laude. Thesis: Correlation between cell growth, cholesterol esterification and expression of MDR1 gene in normal and MDR KB cell lines.

(The above studies are equivalent in level and purpose to a Master of Science in Biology awarded by regionally accredited colleges and universities in the United States. DS in Medical Genetics, University of Cagliari, graduated 50/50 Summa Cum Laude. Thesis: Characterization of OCTN2 in primary carnitine disease

(This title does not have a direct USA equivalent where Residency program are usually reserved for MDs.) The title is issued upon completion of the course of studies (5 years) at the third university level and a thesis consisting of a suitable body of original academic research. Computer Knowledge

S.O.: Windows; Macintosh

Software: Sequencer

GeneSnap

Prism

Sigma Plot

MacVector

Proficient using: Ensembl; USSC Genome Browser; PubMed; NCBI Microsoft Word

Microsoft Excel

Microsoft Power Point

Basic HTML

BioEdit sequence alignment editor (Open Source)

Photoshop (ADOBE)

Indesign (ADOBE)

Publications

Rose EC, Amat di San Filippo C, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat. 2012 Jan;33(1):118-23.

Amat di San Filippo C, Ardon O, Longo N. Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.Biochim Biophys Acta. 2011 Mar;1812(3):312-20 Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Cardiomyopathy and carnitine deficiency. Mol Genet Metab. 2008 Jun 16. Amat di San Filippo C, Pasquali M, Longo N. Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat. 2006 Jun;27(6):513-23 9.

Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15; 142(2):77-85. Review.

Dobrowolski SF, McKinney JT, Amat di San Filippo C, Sim KG, Wilcken B, Longo N. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat 25(3):306-313(2005) Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LTK, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N. Carnitine Uptake Disorder due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. J Inherit Metab Dis ;27(6):778-80. (2004) Amat di San Filippo C, Longo N. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem 279: 7247-7253. (2004)

Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Response to Therapy in Carnitine/Acylcarnitine Translocase (CACT) Deficiency due to a Novel Missense Mutation. Am J Med Genet 126A (2):150-155. (2004) Sharma PL, Nurpeisov V, Lee K, Skaggs S, Amat di San Filippo C, Schinazi RF. Replication-dependent 65R-->K reversion in human immunodeficiency virus type 1 reverse transcriptase double mutant K65R + L74V. Virology. 2004; 321(2):222-34. Amat di San Filippo C, Wang Y, Longo N. Functional domains in the carnitine transporter OCTN2 defective in primary carnitine deficiency. J Biol Chem 278: 477**-*****. (2003)

Books Chapters

N. Longo, C. Amat di San Filippo, E. Schwarz, M. Pasquali. Primary carnitine deficiency (OMIM 212140) Springer's Encyclopedia of Molecular Mechanisms of Disease, Heidelberg, Germany. (2009) Longo N, Amat di San Filippo C, Pasquali M The OCTN2 carnitine transporter and fatty acyd oxidation. In Membrane Transport Disease: The Molecular Basis of Inherited Transport Defects. (Broer S, Wagner CA Eds), Kluwer Academic Plenum Publishers, Chapter 11, 161-174. (2003)

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