Rita Genetica

Empowering organizations and professionals in the genomics and clinical genetics space to harness the full potential of data-driven, patient-centric solutions

SERVICES
- Conduct user research and develop strategies to implement innovative genomic solutions focused on the patient experience
- Provide full stack technical consulting, from UX research and strategic planning, to custom software development and technical writing
- Partner with healthcare and technology companies to drive transformative change through precision genomics and software

Chief Genomics Officer

Natera

PRODUCT DEVELOPMENT AND IMPLEMENTATION
- Main contributor to the development and implementation of a software based multi product variant management system working in collaboration with software development and product management
- Appropriately triaged groups of known negative variants to be excluded from the automated interpretation pipeline
- Drafted, guided and tested automation rules for ACMG guidelines that were integrated in the variant interpretation pipeline
- Carried out concordance studies to help automation of ACMG guidelines to aide implementation in the variant management system
BUSINESS DEVELOPMENT
- Performed due diligence of >15 medium and small companies assessing machine learning capabilities that speed up and enhance variant interpretation processes  
- Drafted technology evaluation agreements for 2 companies 
- Initiated a pilot with 2 companies involving assessment of machine learning technology to aide in automation of variant analysis and interpretation
MEDICAL GENETICS DATA ANALYSIS
- Evaluated and curated medical relevance and diagnostic potential of ~200 cancer related genes and diseases that resulted in the launch of a clinically responsible new gene panel offering
- Evaluated and curated clinical and scientific data of disease mechanism necessary for development and launch of a new clinically responsible RNAseq cancer related large gene panel offering
- Developed and maintained a scalable workflow and guidelines to properly curate clinical and genetic data related to disease mechanism to support RNA seq panel development
- Contributed to the development of marketing materials to support RNA seq panel launch

Senior Clinical Genomics Scientist, R&D

Nostos Genomics

- Clinical genomics subject matter expert providing a deep understanding of end user clinical variant interpretation needs to help create the best in class SAAS AI-driven variant interpretation platform
- Define, write, review and validate new feature requirements and user workflows in collaboration with UX design, software development and data science colleagues
- Identify new user needs to improve current software capabilities based on user experience and competitor analysis
- Owner and author of the product's technical user guidelines
- Provide technical user support during software demos for potential clients and partnerships
- Report bugs and perform candidate release testing in development, staging and production environments
- Mock-up creation and feature mapping development to facilitate adequate specification and implementation of new features

Product and User Researcher

Invitae

PRODUCT DEVELOPMENT AND IMPLEMENTATION
-Focal scientist supporting software engineers and project managers responsible for developing a proprietary clinical genomics data processing platform that supports over 150 scientists, genetic counselors and laboratory directors 
-Proposed, reviewed, prioritized and guided implementation of feature improvement requests
-Identified user needs and refined requirements through a deep understanding of clinical genomics interpretation workflows
-Guided implementation of new gene-condition curation user-interface, data versioning system and publication blacklist tooling
-Identified data model deficiencies, defined requirements in collaboration with software engineers and guided the implementation of data model changes allowing curation of clinical phenotypes
-Troubleshot implementation challenges and bugs working closely with stakeholders and engineers
-Drafted program proposals, developed mock-ups with Balsamiq and authored user stories in JIRA
-Reviewed prototypes with inVision, performed release candidate testing and wrote release notes
-Developed software demos, screencasts and technical user documentation to showcase software usability 
-Regular attendee to software stand-ups and sprint planning

MEDICAL GENETICS DATA INTERPRETATION 
-Led a team of 45 scientists and genetic counselors to evaluate and curate clinical and scientific data of ~1700 genes and diseases to launch new gene panel offerings and assist variant interpretation automation for high volume genetic testing
-Generated ~35+/day high-quality customized clinical diagnostic reports that delivered actionable genetic information to direct patient care using state of the art in house genomics software in a CLIA/CAP certified laboratory
-Acquired and analyzed clinical phenotypic data from medical records of 10+ exomes per month from Spain and Latin America accounts
-Pioneered the use of Confluence wiki pages to centralize clinical genomics knowledge and SOPs

Clinical Genomics Scientist

The Hospital for Sick Children

-  Performed independent research in breast cancer development and metastasis

- Worked in the generation and characterization of conditional mouse models that mimic pathological features of specific human breast cancer subtypes as a platform for drug discovery, targeted therapeutics and pre-clinical testing

Postdoctoral Scientist

The University of Chicago

- One of 40 PhDs selected to participate in the KGI Biosciences Management Boot Camp. Performed opportunity analysis for a predictive biomarker through scientific assessment, economic value and market research. 

- Studied the expression of oncogenic proteins in mice models and in primary keratinocytes carrying viral and non-viral oncogene constructions. 

- Identified HPV-oncogenic proteins that could act as possible predictive biomarkers of HPV-associated cancers.

- Drafted and edited more than 20 laboratory technical protocols and mentored a technician in IHC, IF and imaging techniques.

Research Fellow at the Department of Radiation Oncology

CIEMAT

- Researched and analyzed transposon-targeted gene mutations in transgenic mouse models of skin and breast cancer through the use of NGS. Performed functional genomics validation of the identified candidate cancer genes in clinical grade human samples.

- Drove two separate research projects from conception to publication; one independently and another one through a self-established collaboration with the University of Iowa.  Procured funding through preparation and presentation of grant proposals to the Spanish Ministry of Science and the EMBO organization.

- Responsible for conception, organization, writing and reviewing of manuscripts, fellowships and oral presentations working with a multidisciplinary team that included researchers, physicians, technicians and veterinary pathologists across different countries. Generated 4 high-impact peer-reviewed publications, 11 posters and 2 oral communications presented at national and international meetings in cancer research

- PhD Thesis: "Sleeping Beauty Transposon based analysis of new candidate cancer genes in skin and mammary gland carcinogenesis"

- PhD Thesis Dissertation: https://repositorio.uam.es/handle/10486/660272

PhD Graduate

University of Iowa

-Performed analysis of genetic events contributing to mammary gland carcinogenesis in a transposon transgenic mouse model, using high throughput sequencing techniques (Illumina)
-Keywords: Sleeping Beauty transposon, cancer genomics, breast cancer

EMBO Short Term Scholar

-Performed analysis of genetic events contributing to skin carcinogenesis in a transposon transgenic mouse model, using high throughput sequencing tecnquiques (454 Roche)

Short stay research grant

Centro de Investigación del Cáncer (IBMCC-FICUS)

Undergraduate Lab Training

- Clinical Genomics Scientist, PhD with impactful hands-on product development experience
- 8+ years of significant experience developing and launching clinical genomics interpretation software and tooling 
- Proven success working cross-functionally with stakeholders and engineers in a fast-growing company from ~200 employees at IPO to 1000+ today, a start up and a medium size company
- Detailed-oriented professional scientist with 10+ years domain expertise in clinical genetics and cancer genomics
- Bilingual Spanish and English, Dual US and EU (Spain) citizen, PhD


- Product management - Agile, Scrum, JIRA, LucidChart, Balsamiq, inVision, Confluence, Tableau, Slack, Asana, Notion
- Clinical Genomics - USCS Genome Browser, IGV, ClinVar, AlamutVisual, AlamutBatch, HGMD, VEP, OMIM, GeneReviews, dbSNP, gnomAD, HGVS, HPO, COSMIC, TCGA, cBioPortal, ICGC

- Bioinformatics - Sequence and Gene Expression Data Analysis, Cancer Gene Databases
- Molecular Biology: DNA/RNA/protein isolation, Vector design, N/S/W Blot, PCR, RT-PCR, QPCR, shRNA, NGS Library Preparation
- Cell Biology: Mammalian Cell Culture, 3D-models, Flow Cytometry, Histopathology, IHC, IF, Light and Fluorescence MO

-EndNote, Photoshop, Illustrator, InDesign, iMovie


--Interested in projects focused on Genomics | Preventive Medicine | Digital Health | Wellness | FitTech

-- Specialties: Product development, Genomics software development, Software implementation, User experience, Data analysis, Technical communications, Knowledge Management, Clinical Genomics, Variant interpretation, Cancer Genomics, Market research, Due diligence

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