Investigation of patients with phenotypic features suggestive of cytogenomic alterations

• Grant number: 23/10217-9
• Support Opportunities: Scholarships in Brazil - Master
• Start date: April 01, 2024
• End date: August 31, 2025
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Maria Isabel de Souza Aranha Melaragno
• Grantee: Giovana Manilli Toccoli
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated research grant: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype, AP.TEM

Abstract

The investigation of cytogenomic and molecular alterations, through more powerful and precise methodologies and research techniques, has allowed the characterization of genetic variants with a higher degree of resolution. Establishing a correlation between the patient's phenotype and their genetic alterations is one of the main goals of research in clinical genetics. Therefore, in the project "Investigation of patients with phenotypic signs suggestive of cytogenomic rearrangements", patients referred for investigation of the diagnosis will be studied for the determination of their pathogenic mechanisms and their relationship with the phenotype. Karyotype examination, genomic array, and in cases with negative results, whole exome sequencing will be performed, and in some cases, optical genome mapping. In this way, this project will contribute to a better understanding of the human genome and its variants, in addition to the possibility of correlating the genetic variants with the phenotype of the studied patients, in order to provide a better diagnosis, prognosis, and follow-up of the patients and provide genetic counseling for the family.