Updated: May 18, 2021
Zebrafish: The MOSC ((Model Organism Sequencing Team) at the UDN created two rounds of zebra fish using two different methods to knock out the function of the FAM177A1 gene. Unfortunately, none of the fish in these two rounds have showed any overt differences. Digging deeper, the MOSC team discovered that zebrafish have a previously unknown ‘paralogue’ – kind if like a sister gene with very similar function – that they think may be compensating for the loss of the FAM177a1 gene they created in their zebrafish. This might explain why there were no overt differences seen in those fish. So now they are creating fish with knock-out of both genes. The MOSC team estimates 3-5 months or so for these fish to develop of be studied. Stay tuned and fins crossed these little fishies teach us about the function of FAM177A1!
Case matching: A couple weeks ago, the Stanford UDN connected with a provider in the UK who has a couple families with FAM177A1 variants, and another provider in the US with one FAM177A1 family. The UDN is working on gathering all the details but it seems like they have a similar clinical picture. These additional matches are exciting because, assuming the incoming clinical details match, we have a more solid foundation on which to base this gene-disease association. These new cases would be added to the 4 we have now (Charlotte, Cooper and 2 others). We have not personally connected with any of these families but are very eager to!