Diagnosis of genetic diseases: a new golden age in medicine

Genetic diseases are caused by changes or mutations in a person's genes. Our genes are like instructions that tell our body how to grow and function. To understand the complexity of our genome, let's imagine that a gene is a book of hundreds of pages, and each page has thousands or millions of letters written on it; If we have 23 thousand genes, this means that in 23 thousand books we have to look for a book in which there is one error in a letter.

With the aim of learning more about new methods for detecting and diagnosing genetic diseases, the topic was presented by Dr. Juan Carlos Zenteno Ruiz, academician from the Department of Biochemistry at the UNAM Faculty of Medicine. “Diagnosis of genetic diseases: a new golden age in medicine” In the second session of the Basic Sciences Conferences organized by the College’s Social Communication Coordination.

Although the vast majority of genetic diseases appear during the first years of life, Most of these things are still not known even by medical professionals; Which may delay its diagnosis for up to eight years on average. “In our country we have rare diseases such as congenital ichthyosis in Veracruz and total sclerosis of the cornea in Tlaxcala,” the spokesman noted in the activity broadcast by Canal Facebook Live And Youtube.

A genetic study can analyze the human genome for changes that cause disease. In the words of Dr. Zentino Ruiz “There are different types of genetic studies, and they differ in their ability to read a certain amount of genetic information. Sanger's study, which has been used for 40 years, barely has the capacity to read 800 bases. Using the book analogy, analyze just 800 characters from one book.

However, next generation sequencing (NGS) technology has emerged, a genetic study capable of analyzing billions of bases simultaneously. This makes complete analysis possible, from hundreds of genes to the entire genetic material. “NGS helps provide accurate diagnoses and personalized treatments.” Dr. Zenentino Ruiz highlighted.

Finally, remember this “At the college, we have a Rare Disease Diagnostics Unit (UDER), which I am responsible for, and we are focused on using all the technology we have so that we can provide better care for the population. “We have achieved encouraging results and believe that this technology will become increasingly more accessible.”

If you would like to contact UDER, you can access the website: https://enfermedadesraras.facmed.unam.mx/.

Fernando Jacinto