Our work in collaboration with Dr. Joanna Kennedy and Dr. Ruth Newbury-Ecob is online in Genetics in Medicine. Its a fantastic international collaboration, with patient- , physician- and researcher-driven approach to studying rare disease. We find a genotype-phenotype correlation with disease severity, where late mutations (last two exons) have more significant symptoms. We identify rare missense mutations that cluster and cause the same clinical syndrome. Finally, our work provides clinical guidelines based on 76-patients with KAT6A syndrome based on systematic clinical evaluation. Access to full paper (no firewall) is here: https://rdcu.be/7zqR
Kate Elliot, a talented undergraduate has joined the lab as a research technician!
Maria is co-mentored by Dr. Keri Backus and will be exploring some novel work collaborative work bringing together genomics and chemical proteomics! A belated welcome to Maria!
See a new feature for our lab in The Scientist Magazine!
Check out new work done by Malika Kumar Freund in the Bogdan lab!
Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits
Check out the preprint here: https://www.biorxiv.org/content/early/2018/05/17/324558
See the lab's work featured on the NIH blog!
Its been a long time coming, but the lab is up and running and ready to start some exciting experiments! Stay tuned!