YEAR 2024 VOLUME 2 ISSUE 3
A Genomic Revolution: Advancing Health and Knowledge in Latin America
Editorial: Pioneering Genetics and Genomics Research for Regional Progress
As we enter the second year of the Genetics and Clinical Genomics Journal, there is much anticipation for the future of...
Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene
Introduction: congenital hypotonia, a rare condition that encompasses various neuromuscular disorders, can have a genetic origin, such as infantile neuroaxonal dystrophy (inad), an ultra-rare neurodegenerative disorder of unkno...
De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I
Introduction: Osteogenesis Imperfecta (OI), is known as a disorder characterized by bone weakness and high risk of fractures, of genetic origin, known as brittle bone disease. It has a high burden of morbidity and mortality, as...
De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis
Introduction: Early infantile epileptic encephalopathies (EIEE) are rare syndromes that affect neurological development. The etiology has been uncertain for a long time, but advances in genetics have identified numerous associa...
Detection of a genetic variant of Apert syndrome
Introduction: Apert syndrome (AS), or acrocephalosyndactyly type I, is an autosomal dominant congenital disorder caused by a mutation in the FGFR2 gene, essential during embryonic development. It is characterized by craniosynos...
Advances and Perspectives of Genetic Pathologies in the 21st century.
Introduction: The discovery of deoxyribonucleic acid in 1953 marks the difference between classical genetics that was based on clinical observation to make diagnoses and perform genomic modifications empirically, which triggere...