Genetic diseases are caused by changes or mutations in a person’s genes. Our genes act as instructions that dictate how our bodies grow and function. To put the complexity of our genome into perspective, imagine that a gene is like a book with hundreds of pages, each filled with thousands or millions of letters. With approximately 23 thousand genes in the human body, it would be like searching through 23 thousand books to find just one with a single letter error.
In an effort to shed light on new methods for detecting and diagnosing genetic diseases, Dr. Juan Carlos Zenteno Ruiz, an academic at the UNAM Faculty of Medicine, recently presented a talk titled “Diagnosis of genetic diseases: A new golden age in Medicine” as part of the Cycle of Conferences on Basic Sciences organized by the Social Communication Coordination of the Faculty.
Despite the fact that most genetic diseases typically present themselves in early childhood, many of these conditions remain largely unknown even to medical specialists. This lack of understanding can lead to significant delays in diagnosis, averaging up to eight years in some cases. Dr. Zenteno Ruiz pointed out rare diseases such as congenital ichthyosis in Veracruz and total sclerocornea in Tlaxcala during the broadcast of the talk on Facebook Live and YouTube.
Genetic studies play a crucial role in analyzing a person’s genome to identify alterations that may be responsible for a disease. While traditional methods like the Sanger study have limitations in reading genetic information, newer approaches like Next Generation Sequencing (NGS) are capable of analyzing billions of bases simultaneously, providing a more comprehensive analysis of genetic material. Dr. Zenteno Ruiz emphasized the benefits of NGS in enabling accurate diagnoses and personalized treatments.
Highlighting the efforts at the UNAM Faculty of Medicine’s Rare Disease Diagnostic Unit (UDER), Dr. Zenteno Ruiz mentioned the unit’s focus on utilizing the latest technology to improve patient care. Encouraging results have been observed, with the belief that this technology will become increasingly accessible in the future.
For those interested in contacting the UDER, additional information can be found on the unit’s website.
By Fernando Jacinto