ONCE UPON A GENE - EPISODE 193 - Claudia Gonzaga Jauregui

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Claudia Gonzaga Jauregui is a brilliant scientist who did her undergraduate studies in genomic sciences, received her PhD in molecular and human genetics and started her own research lab in Mexico where she focuses on rare disease and increasing access for genomic sequencing for patients living with rare disease in Mexico and Latin America.

EPISODE HIGHLIGHTS

What are the challenges of not having under-represented populations from Mexico and Latin America in genetic databases?

From an analysis standpoint, we know it's more challenging to analyze the data of individuals from under-represented populations. We don't have population frequency data so it's hard to interpret rare disease variants. It represents a challenge. A lot of the databases are made up of European ancestry individuals, which drowns out the information we have for other populations. The access to these technologies in Mexico and Latin America are about 10 years behind other countries in genomics. The cost of genetic sequencing here is three times as much as it is in the US and the cost restricts testing to people who can pay out of pocket. The exome is sent to the US or Europe, they get sequenced and send the report, but the data all stays in their private database. We don't have data coming back and forming population frequency for our populations.

Have the Hispanic and Latino communities been dismissed more than other populations?

It is the same for all under-represented populations. We have the technology to perform molecular diagnosis and in some ways, it's immoral to refuse access to people because of where they were born or where they live. People with a rare disease should get access and as a scientific community, we need to strive to provide that access.

Can you tell us about the Mexican registry for rare diseases that you helped create?

For many years, the Mexican government said they were going to start the registry. In 2021, they launched the census for rare diseases and then it was shut down after only a couple months. I believed it was needed, so I wrote the protocol, drafted branding, and launched the registry on Rare Disease Day 2022. Only 20 rare diseases are recognized in Mexico, so we are trying to highlight other rare diseases beyond those and also bring attention to the challenges patients face along their diagnostic journey.

LINKS & RESOURCES MENTIONED

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches

Mendelian Genomics & Precision Health Laboratory

Claudia Gonzaga Jauregui on Twitter

Mexican Network of Rare Diseases (ReMexER)

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