ONCE UPON A GENE - EPISODE 193
Claudia Gonzaga Jauregui
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
https://www.amazon.com/Genomics-Rare-Diseases-Understanding-Translational/dp/0128201401
Mendelian Genomics & Precision Health Laboratory
https://liigh.unam.mx/cgonzagaj/
Claudia Gonzaga Jauregui on Twitter
https://twitter.com/cgonzagaj
Mexican Network of Rare Diseases (ReMexER)
https://enfermedadesraras.liigh.unam.mx/
TUNE INTO THE ONCE UPON A GENE PODCAST
Spotify
https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7
Apple Podcasts
https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347
Stitcher
https://www.stitcher.com/podcast/once-upon-a-gene
Overcast
https://overcast.fm/itunes1485249347/once-upon-a-gene
CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
https://twitter.com/OnceUponAGene
https://www.instagram.com/onceuponagene.podcast/?hl=en
Built Ford Tough Facebook Group
https://www.facebook.com/groups/1877643259173346/
Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!
Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick
Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber
Episode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
Bringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska
From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio
Krabbe Disease with Kasey Feldt
BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action
Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini
James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child
More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade
Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell
A Rare Collection - Five Advocacy Aces Share Their Conference Commandments
Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay
Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford
A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
Finding Strength In Every Step
Create your
podcast in
minutes
It is Free
The Modern West
Every L Podcast
The Empty Rooms of Gorski Manor
Things Fell Apart
Uncanny
Jim Harold’s Campfire