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The activity lasted three days and was organized by the Laboratory and Neurology of Garrahan. Genetic studies in neurological pathologies result in obtaining an early diagnosis and appropriate treatment for patients.
This week, Garrahan held the 2nd Conference on Genomic Medicine “Advances in Pediatric Neurogenetics,” a meeting where national and international experts presented the latest advancements in neurogenetics, a discipline that studies the genetic basis of neurological diseases.
The conference was divided into four modules: Neuromuscular, mitochondrial, epilepsy, and movement disorders. Each module presented clinical cases and discussed the diagnosis and algorithm used. Specialists in various pathologies from the United States, Canada, Spain, and other parts of the world delivered lectures.
“These conferences are very important and innovative. We showcase what we have learned since genetic studies were incorporated as routine to avoid unnecessary complementary studies and to consider timely and specific treatment for each patient,” said Soledad Monges, head of the Neurology service.
Genomic medicine allows us to understand the genetic cause of diseases that doctors have historically studied through signs and symptoms, and neurogenetics is characterized by applying genetic knowledge of neurological diseases to improve the classification of pathologies, guide the choice of treatments, and advise families on the possible recurrence of the disease.
Advancements in this field are reflected in the definition of new clinical entities useful for developing therapies aimed at compensating for genetic injury, in the choice of specific drugs, and in the use of ketogenic diets in certain pathologies.
“Garrahan is one of the reference centers for the diagnosis of genetically based neurological pathologies, notably neuromuscular and mitochondrial disorders,” detailed Cristina Alonso, head of the Specialized Laboratories area.
Some of the highlighted topics included tools for genetic diagnosis, nuclear and mitochondrial DNA, genetic counseling, and the interpretation of genomic data and new generation sequencing (NGS) result reports.
The Future of Genomic Medicine in Neurology
The landscape of neurology is changing, propelled by advancements in genomic medicine that promise earlier diagnoses and personalized treatments for pediatric patients.
Recent developments in neurogenetics, as showcased at the 2nd Genomic Medicine Conference at Garrahan, indicate a rising trend toward integrating genetic testing into routine clinical practice. This shift allows for a deeper understanding of neurological disorders, helping clinicians pinpoint genetic causes rather than relying solely on clinical symptoms.
Future trends are likely to focus on the further refinement of genetic testing methods, including next-generation sequencing (NGS), which enhances diagnostic accuracy and efficiency. The ability to swiftly analyze DNA from both nuclear and mitochondrial sources will provide clearer insights into complex disorders like neuromuscular and mitochondrial diseases.
Moreover, the application of precision medicine is set to grow. Tailoring treatments based on an individual’s genetic profile enables the development of targeted therapies, minimizing unnecessary interventions and optimizing outcomes. The exploration of ketogenic diets as a therapeutic intervention for certain genetic conditions illustrates this trend, reflecting a growing recognition of dietary impact alongside pharmacological treatments.
As genetic counseling becomes an integral part of patient care, families will receive crucial guidance regarding the implications of genetic testing. This will empower them to make informed decisions about treatment options and the potential recurrence of conditions in future generations.
International collaboration among experts from diverse regions, as highlighted during the Garrahan event, will continue to accelerate progress in this field. By sharing knowledge and cases, neurologists can enhance understanding and therapeutic strategies, ultimately improving patient care on a global scale.