Jarred Lau Successful in Master’s Defense
The Lochmüller Lab would like to congratulate Master’s student Jarred Lau on successfully defending his thesis this month!
Jarred’s thesis looked at unsolved patients with congenital myasthenic syndromes (CMS), a rare inherited neuromuscular disease caused by disrupted signal transmission at the neuromuscular junction (NMJ). Analysis of these patients’ exome data revealed novel gene candidates for CMS. As an experimental model, Jarred knocked down genetic orthologues in zebrafish and used functional experiments to elicit their neuromuscular role. His study found that knockdown of one of the candidate genes is enough to cause significant decreases in key developmental motor behaviors and abnormal development of the zebrafish neuromuscular system. This evidence lends strong support that disruption of this gene candidate could cause CMS.
To solidify this claim, Jarred will continue work in the Lochmuller lab, investigating roles of candidate CMS genes at the NMJ using electrophysiology studies in zebrafish.
Read next...
Solve-RD flagship publication in Nature Medicine: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
New Lab Publication Identifies Novel ATP2A2 Variant as Genetic Cause of Dominant Rhabdomyolysis
New Publication: Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish
