Etiological investigation through genomic techniques in isolated microtia

• Grant number: 25/25606-6
• Support Opportunities: Scholarships abroad - Research Internship - Master's degree
• Start date: February 01, 2026
• End date: July 31, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Vera Lúcia Gil da Silva Lopes
• Grantee: Laís Bernardo Lopes
• Supervisor: Joris Vermeesch
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Institution abroad: University of Leuven, Leuven (KU Leuven), Belgium
• Associated to the scholarship: 24/13599-2 - Clinically guided genomic investigation of otomandibular defects registered in the Brazilian Craniofacial Anomalies Database., BP.MS

Abstract

Craniofacial anomalies (CFA) constitute a diverse group of congenital defects, with microtia representing one of the most frequent CFA worldwide. Microtia arises from disturbances in the development of the first and second pharyngeal arches, involving abnormal formation or fusion of the auricular hillocks. Clinically, it may present aesthetic and functional consequences, including conductive hearing loss and psychosocial difficulties. About 30% of cases occur as part of a syndrome, such as Treacher Collins and branchio-oto-renal syndromes, which are linked to known loci such as TCOF1 and EYA1. However, many isolated forms remain without an identified molecular cause, reflecting marked genetic heterogeneity. Studies suggest a role for both coding and non-coding variants, highlighting the need for genome-wide approaches. Whole-genome sequencing (WGS) enables the identification of sequence and structural variants in coding and regulatory regions, contributing to the discovery of new disease genes and mechanisms. Applying WGS to isolated microtia offers a promising strategy to uncover molecular mechanisms involved in auricular development. Understanding these mechanisms may clarify key developmental pathways and regulatory networks that shape craniofacial morphogenesis. This project will investigate individuals with isolated microtia through genomic sequencing, using DNA samples from the Brazilian Database of Craniofacial Anomalies (BBAC/UNICAMP). Integrative bioinformatic analyses of coding and non-coding variants will be performed at KU Leuven (Belgium), supporting the identification of pathogenic variants and regulatory mechanisms associated with the condition. (AU)