Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 A brief history of my career journey. I followed my passion after a successful business career and obtained a graduate degree in the biomedical sciences. My skills in project management aided and enhanced my science career as I brought organization, analytical thinking and the ability to develop and deliver initiatives. Furthering my education from a BA in Business Administration, I acquired postbaccalaureate science courses prior to acceptance into a graduate program in Molecular and Cellular Biology. My undergraduate research included subcloning of cDNA for the full-length Blm protein and determining protein-protein binding interactions, specifically residues that contact Rad51. My graduate research was conducted at Harvard Medical School/Brigham and Women’s Translational Medicine where I focused on cancer genetics using Next Generation technologies. After graduating, I accepted my current position at Memorial Sloan Kettering Cancer Center. I have developed and implemented multiple genetic tests for the Diagnostics Molecular Genetics laboratory that increased their profitability. I written and established SOPs, trained observers and summer students, and investigated technologies that enhanced our methodologies. I’m a leader, a team player and still a ‘student’ learning as the world of science continues to change with novel findings. My colleagues would agree that I contributed to their success by being well-organized, managing projects independently and resolving issues, whether technical or otherwise, in a prompt manner. The journey in following my passion for science has been personally rewarding. Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 Licenses/Certificates NYSDOH Molecular Diagnosis/Genetic Testing, License #000176 ASCP MB(ASCP)CM Certificate #2533 PMI (Project Management Institute) former Chicago chapter member Collaborative Institutional Training Initiative (CITI) certified, human subjects Education M.S. Molecular and Cellular Biology University of Massachusetts, Boston MA, 2011 Post-baccalaureate science coursework Rhode Island College, Providence RI, 2007-2009 University of Connecticut, Storrs, CT, summer, 2009 B.A. Business Administration Roosevelt University, Chicago IL 2000 Nominated Member to the Franklin D. Roosevelt Society Skill-Sets: Next Generation Technology: Library prep and indexing; both manual and robotic, Illumina HighSeq, MiSeq, Ion Torrent, Covaris, QIAgility, QIAexcel, Raindance (Thunderstorm), ABI3730x, Pyroseqencing. Bioinformatics: Healthcare Information Technology, Laboratory Information Management Systems (LIMS), Nexus Bio-discovery CNV, Integrated Genome Viewer (IGV), Unix, GATK, SAM-tools, BWA, Mutation Surveyor, GeneMapper, Softgenetics, MAC and PC MS office suite. Standard Assays: RT-qPCR, Molecular Inversion Probe Assay, DNA extraction (FFPE, Tissue/Blood, Cells), Protein/DNA purification, PCR (Sanger Sequencing), Pyrosequencing, SNaPshot, Whole Genome Amplification (WGA), Multiplex-Ligation Probe Amplification (MLPA), Methylation, Microsatellite, Primer Design, Cell Culture techniques. Honors/Retreats Honorary Medal of Graduation, Kitasato Medical University, Kanagawa, Japan. 2011 Guest Presenter at the Kitasato School of Medicine exchange program, Japan, 2011 Harvard Medical School Hematology Awarded Grant, 2010-2011 Sigma Xi Society, Rhode Island College, 2009 Franklin D. Roosevelt Scholastic Society, 2000 Annual International Lymphangioleiomyomatosis Research Conference Harvard Medical School Genetics Retreat Broad Institute Annual Scientific Retreat Dana Farber Cancer Genetics Retreat Experience and Positions Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 Clinical Molecular Genetics Technologist, Next Generation Sequencing, Molecular Oncology, Memorial Sloan-Kettering Cancer Center, July 2014 – Present My work continues at MSK as a Clinical Molecular Genetics Technologist using Next "Gen" Technologies to investigate, understand and diagnose patient samples of various cancers. Using amplicon-based methods for targeted resequencing of cancer genes for molecular diagnostic testing, I work with MiSeq technologies that includes a 847-amplicon panel designed with the RainDance DeepSeq system, covering most exons of 28 genes of known mutations in JAK2, NPM1, DNMT3A, MPL, IDH1, IDH2, CEBPA, and FLT3. In addition, I continue to work with the Diagnostic Molecular Genetics department supporting their germ line validation to obtain NY State approval using MSK-IMPACT (Integrated Mutation Profiling of Actionable Cancer Targets) panel. This assay is a Hybridization-Capture Based Next Generation Sequencing Assay for the Detection of Mutations of the coding exons of 341 genes, including 47 exons from 19 genes. I'm very excited to be part of MSK personalized medicine's future through use of Next "Gen" Technologies. By combining my development and clinical skills, I gladly welcome the challenges and seek to improve and validate genetic testing for our cancer patients. Clinical Molecular Genetics Developer Molecular Oncology, Memorial Sloan-Kettering Cancer Center, November 2012 – July 2014 Develop and implement patient specific molecular assays in concordance with New York State Department of Health approval including Next “Gen” Sequencing using a 341 cancer panel submitted for NY State validation. Clinical Genetic Tests include but not limited to; BAP1, EPCAM, MLH1, MSH2, APC, PAX5, TERT, CDH1, BRCA1, BRCA2 Establish written SOPs adhering to CLIA regulations. Review and document procedures leading to translate the work into clinical applications. Supervise/mentor Observers and Interns, and Clinical Technologist in genetic techniques, trouble-shooting assays, and investigating data as they apply to clinical results. Provide leadership and guidance to MSK Cancer initiative by sharing ‘expertise’ experience with Next Generation technologies. Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 Graduate Studies Dr. David Kwiatkowksi, Principal Investigator Harvard Medical School, BWH Translational Medicine, November 2009 - November 2012 Established in-house Library Prep for Next ‘gen’ sequencing by working with PCPGM experts on procedure. Designed method and a set of command procedures by working with PI and Software Developer to manipulate raw data from Illumina Highseq 2000 providing end-user friendly data analysis. I enhanced the Unix script run time by using an Amazon Cloud environment, hence reducing processing time. By working directly with bioinformatics experts, I acquired knowledge of ‘novice’ commands in Unix. Transitional Cell Carcinomas (Human) study correlated findings with T-stage with findings to be used in development of clinical assays for targeted therapies. Obtaining patient FFPE samples from MGH and BWH, I applied Affymetrix 330k SNP array technology with MIP methods. Given the technology was novel at the time, I investigated multiple software companies would manipulate raw data received from Affymetrix. My decision of purchasing Nexus Software by Bioinformatics provided me GISTIC stats tools to understand copy number events. As of today, my publication has contributed to establishing the partnership between Next Software and Affymetrix for computational studies; and MRC Holland developing a probemix to study CNV in bladder cancer. Through my study of Renal Angiomyolipomas and Lymphangioleiomyomatosis, I brought new technology to Dr. Kwiatkowski’s lab, this being the designed an in-house library assay for Next 'gen' sequencing and data analysis using Illumina’s HighSeq 2000. The skills I gained in my career in business contributed greatly to the bioinformatics work I developed. Working with a Unix Developer, created Unix Script used on Amazon Server in the Cloud environment to import/export my data. I established a user-friendly vcf/excel file that quantified point mutations and indels. Trained post-docs on procedures. Undergraduate Research Dr. Karen Almeida, Principal Investigator Rhode Island College, December 2007 – April 2009 Research: Investigated Bloom Syndrome by studying the role of BLM in genome stability through bloom syndrome helicase and Rad51 complex interactions. Developed new protocols i.e. GST-Magnetic Agarose Beads with BLM and Rad51-GST, NiNTA Agarose Beads with BLM and Rad51-GST and Streptavidin MagnaBind Beads with DNA and BLM. Volunteered to setup the LP Biologic System and LP Data View software for our lab. I learned procedures and trained fellow lab researchers on use for protein purification. Supervised summer students on protein investigation studies and understanding results. Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 HR Project Manager, Analyst Hewitt Associates, Lincolnshire IL December 1998 - October 2006 Provided project coordination for components of Hewitt's Vision Track, a high-visibility business intelligence application. Drove the requirements-definition process and tracked ongoing changes to those requirements. Created and implemented organizational processes for all phases of the application development life cycle. Coordinated the interaction between various stakeholder communities: application developers, vendors, customers, operations, and help desk. Oversaw a key firm-wide Java applet push to over 10,000 user workstations. Created project timeline, test requirements, and pilot test scenarios for multiple PC environments. Involved substantial coordination between multiple internal and external technical organizations [IS, Peoplesoft Portal, BITech, Change Management]. Project Leader for PeopleSoft upgrade v7.5 to v8.4. Under a Senior IT Project Manager, lead quality testing, tracked team updates on project and coordinated “hot-line’ status during actually upgrade. This called for an after hour shut down on the current version while upgrading to the new, calling Developers on scheduled phases for their deployment, even during very early A.M. hours. Led development and ongoing maintenance of an employee recognition program and associated software application. Developed scope document, requirements definition, implementation project plan and milestones. Oversaw the activities of a four-person core development team. Managed vendor relationships and contracts for content vendors. Oversaw testing and training activities. The initial development effort lasted six months, with ongoing maintenance versions released roughly every eight months thereafter. # Led development of an e-delivery mechanism for sensitive compensation data, replacing paper-based delivery. HRIS Analyst Square D Company April 1993 - December 1998 Smartstream Implementation (Year 2000 Project) -- Security Administrator: Assisted in planning, installation, sub-system interface development & documentation of the new HRIS Client-Server based software for Human Resources, Payroll and Benefits. Attended training for new system implementation. Tested processes, designed and implemented security structure firm-wide (10,000+ employees). Developed training methodology for end-users using Internet and hard copy manuals. Designed strategy to upgrade computers, video equipment and furniture for new training center. Managed temporary help for year 2000 project. Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 Interests and Community Engagements: Science Lectures, Hiking, Biking Fossil Preparation, Geology Lab, Chicago’s Field Museum Citizen Scientist, EcoWatch Network, emphasis in Forestry Humane Society Volunteer Hand-Bell Choir: favorite note, C Publications American Society of Human Genetics Conference, 2014 Molecular pathogenesis of Tuberous Sclerosis Complex (TSC) in patients with no mutation identified in TSC1 or TSC2 Magdalena E Tyburczy1, Yvonne Chekaluk1, Kira Dies2, Mustafa Sahin2, Jennifer Glass3, David Franz3, Susana Camposano4, Elizabeth Thiele4, David J Kwiatkowski1 1 Brigham and Women’s Hospital, Harvard Medical School, Boston 2 Children’s Hospital, Boston, 3Cincinnati Children's Hospital Medical Center 4 Massachusetts General Hospital, Boston Association of American Pathology Conference, 2014 Robust detection of whole and partial gene copy number aberrations (CNA) in targeted capture-based sequence data Donavan T. Cheng, Ronak H. Shah, Ahmet Zehir, A. Rose Brannon, Talia Mitchell, Yvonne Chekaluk, Ryma Benayed, Khedoudja Nafa, Dara Ross, Meera Hameed, Liying Zhang, Maria E. Arcila, Lu Wang, Marc Ladanyi, Michael F. Berger Associate of American Pathology Conference, 2014 BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Activation of Cryptic Splicing Sites Arianne Morrison1, Yvonne Chekaluk2, Ruben Bacares2, Marc Ladanyi2, Liying Zhang2 1 School of Medicine, Wake Forest University, Winston Salem, NC 27157 2 Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065 Integrative analysis of 1q23.3 copy number gain in metastatic urothelial carcinoma Clinical Cancer Research, January 27, 2014 Identification of nine genomic regions of amplification in bladder cancer, correlation with stage, and potential prognostic and therapeutic value PLoS One, April 4, 2013 Sun exposure causes somatic second hit mutations and angiofibroma development in Tuberous Sclerosis Complex Human Molecular Genetics, November 23, 2013 TSC1 involvement in bladder cancer: therapeutic implications Journal of Pathology, February 2013 Yvonne I. Chekaluk email: hunt4redbean@yahoo.com cell: 781-664-8225 Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary Lymphangioleiomyomatosis (LAM) American Journal of Respiratory and Critical Care Medicine, February 2013 LAM genome analysis reveals that TSC2 mutations appear universal while other mutation events are rare, suggesting that TSC2 mutation is the only pathogenic event needed for LAM development 2013 LAM Conference, February 2013 A shower of second hit events as the cause of multifocal renal carcinoma in TSC. 2013 LAM Conference April 20, 2013 BAP1 homozygous missense mutation A>T c.2054 (p.E685V) disrupts normal splicing in an MPM cell line Memorial Sloan-Kettering Cancer Center, New York, NY August 2013 Arianne Morrison, Yvonne Chekaluk, Ruben Bacares, Marc Ladanyi, Liying Zhang (POSTER) A new brain model of tuberous sclerosis with giant cells, multiple-organelle dysfunction, and seizures PNAS, October 21, 2011 Bladder Cancer Genomics: Mutations, Deletions, and Amplifications Graduate Thesis, Havard Medical School / University of Massachusetts December 20, 2011 Advisory Committee: David Kwiatkowski, Harvard Medical School/BWH, Rick Kessli, Program Director, Linda Huang, Ken Kleene, Steve Ackerman, Professors, University of Massachusetts Next "Gen" Sequencing; The Role of TSC2 in LAM Presenter/Guest Speaker, Kitasato School of Medicine, Japan August 2011 Bloom Syndrome Protein: Production and Purification of Fragments to Study Protein Partnerships RI-INBRE, Washington DC August 5, 2008 Yvonne Chekaluk, Krystal L. Bergeron, Priscila B. Falcao, Eileen L. Murphy, Karen H. Almeida (POSTER)