Our long-awaited trip to NYC & Mt. Sinai finally arrived!
In July of this year, we reconnected with Dr. Eva Morava, a clinical geneticist specializing in Congenital Disorders of Glycosylation (CDG). Due to one of Nora’s gene variants, we have long suspected that she may have a type of CDG known as ALG13 CDG, but until recently, there was no way to test for it.
Over the past two years, Dr. Morava’s team has made groundbreaking advancements in demonstrating that ALG13 CDG can be detected in brain tissue. After several exciting conversations, Finding Nori officially funded our first research grant to create a mini brain/organoid study focused on understanding the effects of distal ALG13 variants on brain glycosylation.
To translate… Dr. Morava’s team will use Nora’s fibroblast cells to grow brain organoids (basically, manufactured brain tissue) to test glycosylation activity in her brain. This could confirm if Nora has a glycosylation disorder and help determine the relevance of her ALG13 gene variant to her neurodevelopmental disorder.
This past weekend, we took a whirlwind trip out to NYC to get the ball rolling! We arrived at Mt. Sinai and met with Dr. Morava-Kozicz, her genetic counselor, Georgia, and her PhD student, Rameen. Dr. Morava collected fibroblasts (skin biopsies) from Nora and her direct family members to use as controls.
Sam was the bravest 7 year old I know throughout the whole process, and as a reward, we were all treated to a VIP lab tour! Rameen showed us around the lab, complete with a beautiful view of the river from the 14th floor.
So, what happens next?
Now we wait about 8 months to allow the mini brains to grow, after which a variety of tests will be performed to check for normal or abnormal glycosylation.
The other REALLY exciting thing about this study is that the mini brains can also be utilized in future precision medicine studies to explore potential compounds or treatments that could help restore proper brain function for various brain disorders. I was told that each fibroblast can generate around 30 mini brains!
We are so incredibly excited to see the results of the study, and to see what doors it opens up for future research. As always, EVERYTHING that I have written about is happening because of our supporters and donors for which we remain eternally grateful.
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