Erica Smith, Phd Email & Phone Number

Aliso Viejo, CA, US

Analysis of clinical Exome results, variant assessment for rare disease tests following internal classification schemes, management and curation of exome data, review of medical literature and writing gene summaries, and participation in clinical research (conference abstracts and peer-reviewed publications).

San Francisco, CA, US

• Critically analyze and interpret multi-omic data for undiagnosed exome cases from rare Mendelian conditions
• Analyzed whole genome sequencing results for more than 100 cases
• Develop SOP guidelines for multi-omic interpretation and workflow next steps for an NHGRI-funded grant to find the causes of Mendelian disease
• Participate in consortium meetings and present results to the community by attending conferences and supporting manuscript preparation
• Act as a technical project manager to build new software tooling to make variant interpretation and non-clinical reporting processes more efficient
• Collaborate closely with bioinformaticians, molecular biologists, and software engineers within and outside Invitae

San Francisco, CA, US

• Analyzed and interpreted more than 450 exome cases
• Served as point of contact for at least 45 Scientific Inquiries related to exome testing, and identified trends for use in improving policy and client-facing literature
• Worked cross functionally with other teams to move exome test off PCR-bait based assay to whole genome technology
• Collaborated with bioinformatics and software development teams to prioritize features essential for clinical interpretation and troubleshoot data pipeline challenges
• Wrote and gathered consensus on client-facing text for clinical reports, consent forms, and web pages to convey updated methods and limitations within CLIA regulations
• Volunteer epilepsy gene curator with ClinGen (https://www.clinicalgenome.org/)

Aliso Viejo, CA, US

• Analyzed more than 300 diagnostic exome sequencing cases
• Prepared manuscript on multiple diagnoses identified in Ambry’s patients via Diagnostic Exome Sequencing.
• Authored and presented featured platform presentation: Multiple Findings in Diagnostic Exome Sequencing: Separate or Intertwined Diagnoses? - American College of Medical Genetics and Genomics – Charlotte, NC.
• Curate gene-disease database with newly published findings in journal articles and conference abstracts, public databases, and internal patient database.
• Identify cases for reclassification due to newly diagnosed disease, initiate reclassification report process, and draft newly-characterized gene reviews for patient reports.
• Contribute to ClinGen Epilepsy group as biocurator to help standardize clinical validity evaluation of epilepsy genes: https://www.clinicalgenome.org/working-groups/clinical-domain/pediatric-neurology-clinical-domain-wo.

Aliso Viejo, CA, US

• Critically analyzed medical and scientific literature to curate gene-disease database with newly published findings in journal articles, public databases, and internal patient database, allowing rapid diagnosis of.
• Identified previously unsolved exome cases for reanalysis using newly published gene-disease evidence and draft newly-characterized gene reviews for patient reports, resulting in increased Positive diagnostic rate from.
• Developed a clinical validity scoring system based on published guidelines and feedback from the international Clinical Genome Resource, coordinated monthly meeting to discuss tough cases and optimize scoring system.
• Published manuscript on Ambry’s clinical validity scoring system and reclassification rates.
• Interface with IT, bioinformatics, disease-based panel creation, and reporting teams to help leverage internal gene-disease database in new product launches.
• Coordinated career event called Breaking into the Healthcare/Biotech industry for graduate students and post-docs, co-hosted by UCI GPS-biomed and the Healthcare BusinessWoman's Association.

Irvine, CA, US

• Researched the effects of repeated streptococcus pyogenes infections on the brain in the Agalliu lab, http://faculty.sites.uci.edu/agalliulab/
• Represented the Agalliu lab as primary technical contact and spokesperson for the PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus) project.
• Planned, sourced, implemented, and maintained Biohazard Level II+ room and optimized Streptococcus Pyogenes handling protocols for use by multiple laboratory personnel, requiring integration of UC Biosafety policies.
• Determined and persued course of action essential to obtain data needed for RO1 application and to address reviewer concerns with consultation from Dr Agalliu.
• Translated broadly-defined research challenges from RO1 grant application into actionable steps to solve highly complex biological questions. Balanced conflicting work requirements such as RO1 resubmission deadlines.
• Played leadership role by setting broad vision and strategy and helping attract and retain Agalliu lab personnel, specifically mentored one graduate student and three undergraduates students and directing technical.

Irvine, CA, US

• Thesis: BDNF and IL-1β regulate neuron survival through mTOR modulation of autophagy
• Acquired expert knowledge of highly advanced concepts spanning specific topics in neurobiology, psychiatry, and immunology to independently contribute to science through publications and presentations.
• Communicated research progress to academic experts, primary investigator, and funding agencies and advised on future research directions through formal and informal presentations, posters, and written reports.
• Submitted detailed reports for evaluation upon completion of each experiment.
• Used independent judgement in determining methods, techniques, and evaluation criteria for research project and allocated resources as necessary.
• Managed shared tissue culture room and was Radioactivity Safety Officer for lab.

La Jolla, CA, US

Prepare materials for subject testing, score neuropsychological and cognitive tests, and coordinate interns. Developed familiarity with theory of twin study method and various tests.

San Diego, CA, US

Conduct phone screens with subjects for Phase III clinical drug trials on depression, ADD, bipolar disorder, and schizophrenia, create flyers for specific studies and documents to record Clinical Trial Agreement changes and advertising contracts. Attend research staff meetings, organize financial binders.

Doctor Of Philosophy (Phd), Neurobiology And Behavior

Bachelor Of Science (Bs), Biology, General