This post is a long time coming. One thing I've unfortunately come to realize over the past 4 years is that scientific research on a previously undiscovered gene variant takes a loooong time.
That frustration aside, I wanted to provide a quick update on the various workstreams we have in flight.
Warning - scientific jargon incoming
UDN Updates:
After a long wait, we finally received the results of Nora's mRNA sequencing. Unfortunately, her mRNA sequencing was "nondiagnostic", meaning it didn't tell us much more about PAX5 as the potential cause of her disorder, nor did it reveal anything particularly interesting that would indicate another cause.
Their next step is to pursue long read DNA sequencing, which sequences longer strands of DNA, and can reveal information on some of the more complex structural variants vs short read. She is also on the list of candidates for a multiomics study. My understanding is this is a special type of testing that combined long read DNA and RNA sequencing along with special markers put on the DNA to help understand more complicated things like Methylation (which genes get turned on and off)
PAX5 Collaboration:
PAX5 is currently our leading candidate gene, and where the focus is currently for the funds we raise through Finding Nori. With the help of genetic counselors from UDN and Rare Genomes Project, we have engaged in partnership discussions between a team of researchers at Erasmus University in the Netherlands and the team of researchers at Baylor that published the initial paper on PAX5, linking it to a novel neurodevelopmental syndrome.
The exciting thing is that these teams are actively collaborating with one another, sharing deidentified data, and working to create unique assays to test PAX5 function. Our ultimate goal with the team is to get a genetic mouse model funded with Nora's specific PAX5 variant to determine if the mice show any similar neurological phenotypes.
Additionally we have applied to the consultation study at the Precision Medicine Institute at the University of Alabama at Birmingham. This is another set of eyes and another potential candidate to find a motivated research team to dig further into PAX5.
In Short, Nora remains undiagnosed, and our short term goal continues to be confirming the gene responsible (be it PAX5 or otherwise). If we can identify the cause, we can better understand the disease mechanism, and start to look into precision medicine candidates!
Science Rules :)
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