Preprint for our newest #RareDisease gene discovery w/@mikebamshad UW-CMGTalbotLabDebnick. This has been the works for almost SIX years (glad we shared our initial cases on MyGene2 years ago!) 1/10
TalbotLab showed mylpf exclusively expressed in fast-twitch muscles. Zebrafish mutants had lower myosin activity => paralyzed pectoral fins (aka fish limbs). Muscle membrane structure disorganized too, but only among fast-twitch fibers 6/10
Muscles form at first in zebrafish mutants, then degenerate during development, actually breaking apart TalbotLab. mylpf needed for maintaining myofiber integrity but not formation or growth 7/10
Significant funding cuts for ZFIN are causing staff reductions in 2021. We will be losing three software developers, our systems administrator and administrative assistant. Additionally, two curators will reduce to half time. Further cuts may be needed in the next few years. 1/3
Things everyone can do to help: tell program officers for your grants how important ZFIN is to your research and encourage support for ZFIN from a variety of NIH institutes. When you publish, explicitly mention ZFIN.