Translational Genetics and Duchenne Muscular Dystrophy: Enhancing Healthcare Quality and Access in Mexico

Abstract

Introduction

Translational genetics aims for the effective transfer of knowledge derived from the human genome into clinical applications for the prevention, diagnosis, and treatment of diseases. Despite the development of institutional infrastructure and genomic diversity projects in Mexico, the rate of translation from basic science into medical practice remains inefficient, failing to realize the potential benefits for public health. This issue is critical in monogenic diseases such as Duchenne muscular dystrophy (DMD), where the lack of success in patient management highlights the structural and institutional barriers to achieving precision medicine in resource-limited settings.

Objective

To present the experience of a translational approach applied to Duchenne muscular dystrophy through a pilot project in Mexico, and to propose specific strategies to promote the development and implementation of translational genetics in the Latin American region.

Methodology

A pilot program was designed and executed, focusing on the search for serum biomarkers as surrogate endpoints for the diagnosis and carrier detection of DMD. As a translational bridging strategy, integrative and interdisciplinary workshops were conducted, involving the patient community, civil associations (such as the Sociedad Mexicana de la Distrofia Muscular A.C. and the Asociación de Distrofia Muscular de Occidente A.C.), and academic institutions (INRLGII, UAG, and IPN). The goal was to foster bidirectional communication between researchers and society to address urgent health needs and to train professionals in diagnostic algorithms, genetic panels, and next-generation sequencing (NGS) technologies.

Results

From the project, the serum biomarker MMP-9 was identified and confirmed, and serum myostatin was proposed as a new biomarker for DMD. Likewise, the utility of MiR-206 (obtained via liquid biopsy) and mini-STR assays for carrier detection in complex cases was demonstrated. The workshops allowed for the delineation of the main obstacles faced by families in Mexico, such as an average delay of two years in symptom recognition and the fact that only 30% of patients obtain a definitive diagnosis. Furthermore, the use of the Mexican Node of the Human Variome Project (HVP) was promoted for the collection and open sharing of genetic variation data under the standard HGVS nomenclature.

Conclusions

The successful implementation of translational genetics in resource-limited settings requires targeted programs that optimize existing infrastructure in the short term. It is imperative for decision-makers to commit to closing the gap in healthcare access and quality by establishing rational policies and bioethical frameworks that protect vulnerable populations from therapeutic fraud. Finally, academic and health institutions must coordinate the integration of highly trained human resources into institutional labor networks, enabling genomic innovation and knowledge to fulfill their primary objective: reducing the burden of disease and alleviating human suffering.