Scott Younger #ASHG22: Genomic Answers for Kids (GA4K). Currently have >10k subjects enrolled and have returned ~1k diagnoses.
Focus here is large scale assays, specifically establishing a protocol to do patient-derived iPSC reprogramming at scale. Have generated 250 iPSC lines
Focus here is large scale assays, specifically establishing a protocol to do patient-derived iPSC reprogramming at scale. Have generated 250 iPSC lines
Scott Younger #ASHG22: Using antisense oligonucleotides (ASOs) to modulate gene expression. Proof of their use in TNNT2 gene.
Scott Younger #ASHG22: Robust restoration of dystrophin expression in DMD-patient organoids when applying a DMD-targeting ASO. Phenotypes restored as well (beating cells in dish).
Scott Younger #ASHG22: Going from PBMCs to ASO lead identification is taking ~8 weeks for these DMD patients.
Now generalizing to other phenotypes. One of the most common phenotypes in GA4K dataset is seizure.
Now generalizing to other phenotypes. One of the most common phenotypes in GA4K dataset is seizure.
Scott Younger #ASHG22: Assaying the seizure phenotype in brain organoids. Patient organioids show hyperactive calcium uptake. Use a GFP minigene to identify splice-disrupting intronic variants (which can then be targeted with an ASO).
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