Strengthening partnerships for an academic goal

Summary

In this edition, we present two original articles that address genetic variants of relevance associated with carbohydrate metabolism diseases and neuromuscular disorders in a specific region of Colombia. These findings underline the urgent need to train healthcare professionals for the early diagnosis of these pathologies and to involve the state in promoting and generating knowledge about neglected diseases.

We also include a report on an extraordinarily rare hemato-oncological case, documenting the massive accumulation of copy number variants. This report strikingly illustrates the clinical importance of copy variant studies in hemato-oncology, highlighting the first recorded case of Geroderma osteodysplastica in Panama.

Finally, we present a comprehensive literature review that explores the genes associated with prostate cancer, covering research published between 2019 and 2023. This review highlights the critical influence of the genes BRCA1, BRCA2, AR, and PTEN in the pathogenesis of prostate cancer, especially in its castration-resistant metastatic form (mCRPC). The identification of BRCA1 and BRCA2 as markers of aggressiveness, along with the relevance of PTEN in disease progression, reinforces the need to develop more specific therapies and explore additional biomarkers, given the complex landscape presented by cancer cells. These articles reflect the unwavering commitment of our researchers to generating knowledge from our Latin American region, significantly contributing to global science. We hope that this edition will be of great help and encouragement to your scientific work.

We want to take this opportunity to thank the editors, reviewers, and readers for their valuable contributions to the realization of this publication. The role of the editor is essential in the construction and maintenance of the scientific quality of our journal. Their vision and dedication ensure that each published article not only meets the highest academic standards but also reflects relevance and impact in the scientific community. Without their leadership and guidance, this rigorous process would not be possible. This type of partnership can only endure with a clear and honest vision of the long-term impact of education.
Reviewers, with their expert knowledge and meticulous analysis, represent the backbone of the peer review process. Their commitment to thoroughly examining each manuscript and providing constructive criticism is essential to ensuring the accuracy, reliability, and novelty of the research we share with our audience. Often working behind the scenes, reviewers significantly contribute to science, enhancing the quality of works and guiding authors towards excellence.

Finally, our readers play an essential role in the cycle of scientific communication. Their interest, curiosity, and practical application of the knowledge acquired bring the published research to life. Each article becomes a bridge between research and practice when it is read, discussed, and applied by you, our readers. Your feedback and active participation motivate us to continue improving and to remain a reliable source of scientific information. Together, editors, reviewers, and readers form an essential triangle that supports and strengthens the mission of our journal: to advance scientific knowledge and contribute to the improvement of health and well-being in society. To all of you, our deepest gratitude.

Sincerely,

Jorge D. Méndez-Ríos

Editor-in-Chief

Genetics and Clinical Genomics