William Bertani Torres

– Functional Modeling: Led functional analysis of SOX10 variants using patient-derived hiPSC differentiation (Neural Crest), establishing a new pipeline for disease modeling. – Molecular Discovery: Directed Whole-Exome Sequencing (WES) analysis for 16 unsolved cases, resulting in the identification of novel candidate genes for Waardenburg syndrome. – Methodological Expansion: Proactively integrated CRISPR/Gene-Editing in Xenopus models following targeted international training (UK - Porthsmouth and East Anglia). – Scientific Output: Authored and published 4 peer-reviewed papers; ensured successful communication to expert and lay audiences. – Mentorship & Representation: Supervised and trained one Master's student to completion while representing 10+ PhD researchers within the Marie-Curie European Network NEUcrest

– Dissertation: Next-generation sequencing and its application in the genetic study of Waardenburg syndrome. – Completed an advanced Master's program emphasizing the translation of complex genomic data into patient-centered clinical decisions and robust compliance. – My curriculum included over 200 hours of direct genetic counseling and clinical description appointments, sharpening my expertise in stakeholder communication, physician collaboration, and the ethical assessment of complex diagnostic cases. – The technical foundation centered on managing the full life cycle of WES data, from initial filtering and detailed BAM file analysis to the production of high-quality molecular clinical reports, ensuring regulatory and technical accuracy at the critical point of clinical communication.

– Executed a self-directed, complex genomics project within a high-volume Genetic Counseling Service environment. The core deliverable was a detailed technical report analyzing a rare, three-generation chromosomal abnormality (Trisomy 1q42-qter). This required end-to-end project management, including comprehensive scientific literature review (competitive/landscape analysis), meticulous clinical data collection (detailed patient history and dysmorphology assessment), and the execution of genetic tests to confirm breakpoints and pathogenic cause. – Simultaneously, I gained critical client-facing experience by shadowing consultations, reinforcing professional communication and ethical data handling in a clinical setting.

– Representative of the 48th Class of Biomedical Sciences in meetings with the Board of Directors of the Unesp Biosciences Institute - Campus Botucatu. – In charge of organization of the graduation ceremony.

– Joined the laboratory headed by Dr. Sainan Wei, at the Department of Pediatrics and Human Development, Michigan State University, East Lansing, United States. – Under the supervision of research assistant Nisachon Chaiwang, I learned to perform: – DNA extraction – Genetic tests for Fragile-X, cystic fibrosis, hereditary hemochromatosis, prader-willi and others; – Clinical report of molecular results.

Tutoring in the Comparative Embryology course, under the guidance of Professor Arielle Cristina Arena. 52 hours of activities with Biology majoring sophomore students

– The PET program is a federally funded Tutorial Education Program (PET), structured around student teams and faculty tutors, dedicated to a model of undergraduate training that unites the core missions of teaching, research, and extension activities. – Coordinated by Prof. Luciene Maura Mascarini Serra, I applied the principles of research and extension to a community health initiative focused on water conservation and epidemiological risk mitigation. My primary contribution was in data strategy and direct user interfacing. This involved designing and refining the primary data collection questionnaire to capture accurate behavioral and demographic information, and then personally conducting face-to-face interviews within the study population. This rigorous process provided the foundational data necessary to formulate targeted educational strategies aimed at changing population habits and improving public health quality of life.

– Acquisition of specific skills - Training (105 hours) in the Reproductive Toxicology Laboratory - REPROTOX, Morphology department under the guidance of Prof. Wilma Grava Kempinas and Cibele Santos Borges. – Dedicated 105 hours to the execution of specialized protocols critical for toxicology and reproductive physiology assessments. My responsibilities included performing surgeries and behavioral analyses, such as evaluating male/female sexual behavior and performing physical milestone checks (e.g., preputial separation). This practical training developed expertise in animal manipulation, rigorous data collection using established physiological tests (e.g., uterine contractility), and the preparation of tissue samples for downstream study. This direct project contribution confirmed my reliability in executing sensitive protocols and maintaining ethical standards in preclinical testing.

– Complementary Training Activities - Training (150 hours) at the Anatomy Department under the guidance of Prof. Dr. Wilson de Mello Júnior. – Project: "Alcoholism and maternal behavior: implications of maternal behavior on alcohol intake in voluntary ethanol drinking rats (UChA and UChB)" – Preclinical Research & Bioterium Management Training: GLP Compliance and Data Integrity – Completed 150 hours of complementary training, specializing in the Quality Control and maintenance of a certified animal facility. My duties included rigorous adherence to standard operating procedures (SOPs) for bioterium upkeep (climate control, sanitation, resource replenishment) essential for data integrity. I provided technical support for a complex project on alcoholism and maternal behavior, encompassing specialized procedures such as tissue collection, histological slide preparation, and behavioral phenotyping of specific rat lines (UChA/UChB). This confirms proficiency in maintaining high standards of preclinical laboratory operations and ethical animal handling protocols (e.g., using CO2 and liquid nitrogen euthanasia methods).