Year 2024, Volume 2, Issue 1Published: April 30th, 2024 Editors and Reviewers The following team of…
Year: 2024
Awareness of rare genetic diseases in daily clinical practice
Author: Jorge D. Méndez-Ríos1 In this issue, we are pleased to present 4 multidisciplinary papers that…
Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic
Authores: atlin De La Rosa Poueriet1, Andrea Irina Servalle Mella2, Bary Bigay Mercedes3 This study analyzes…
Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report
Authors: Juan Manuel Sánchez-Vargas1, Lina Johanna Moreno Giraldo1 Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is a disease…
Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene
Authors: Enrique Daniel Austin-Ward1, Jean Villegas2 The study of patients with short stature is complex and…
Membranous nephropathy: genetics, antigens and antibodies
Authors: Karen Courville1, Norman Bustamante2 Membranous nephropathy is a kidney disorder that thickens the glomerular basement…
Editorial Team – Volume 1 Issue 3 – 2023
Author: Jorge David Mendez-Rios The following physicians and researchers contributed as Editors and Reviewers to the…
Unlocking the Molecular Secrets: The Transformative Role of Genetic Insights in Modern Medicine
Author: Jorge David Mendez-Rios In this editorial, we explore the pivotal role of genetics in revolutionizing…
Mother Genetics
Author: Enrique Daniel Austin-Ward While I was thinking about how to write this brief article, I…
Precision Personalized Medicine of Strategic Health Action in Niemann-Pick Disease type A/B
Authors: Juan Manuel Sánchez-Vargas, Lina Johanna Moreno Giraldo Introduction: Niemann-Pick A and B diseases (NPD), are…