In the twenty-sixth installment of the PhenoTips Speaker Series, Principal Investigator at the International Laboratory for Human Genome Research (LIIGH), UNAM, Dr. Claudia Gonzaga-Jauregui addresses methods to improve equitable access to rare disease care.
Individuals affected by rare diseases deserve accessible, appropriate care to achieve the highest possible physical, mental, and social well-being. Though advancements in rare disease diagnosis and care have accelerated over the past decade, several challenges still hinder access to equitable, life-changing care for patients and their families. Limited public health awareness, difficulties accessing trained medical experts, treatment costs, and disjointed healthcare systems all contribute to the burden patients and their families must navigate during the diagnostic odyssey.
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Dr. Claudia Gonzaga-Jauregui did her undergraduate studies in Genomic Sciences at the National Autonomous University of Mexico (UNAM). She obtained her PhD in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses. Since then her research has focused on the investigation of human pathogenic and polymorphic genomic variation that contributes to human traits and diseases, with a particular focus on family-based analyses of rare and common genetic disorders to identify pathogenic variation and novel genes associated with disease. Dr. Gonzaga-Jauregui believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine. Because the beginning of precision medicine is an accurate genetic diagnosis, Dr. Gonzaga-Jauregui has dedicated a great part of her career to the study and identification of novel genes responsible for rare genetic disorders to provide molecular answers to patients with undiagnosed diseases, and has co-authored and co-edited the first textbook focused on the application of genomic approaches to the study of rare genetic diseases.
In this discussion, Dr. Gonzaga-Jauregui addresses:
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