Shek Man Chim

Targeting the Alk4 pathway protects against age-related bone loss.

This study shows inhibiting the Alk4 pathway in aging mice prevents age-related bone loss and sarcopenia by reducing Activin signaling.

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

A Human Brain-Chip for modelling brain pathologies and screening of BBB crossing therapeutic strategies

The paper develops a human Brain-Chip model to study brain pathologies and test BBB-crossing therapies, showing in vitro/in vivo correlation for drug screening.

Rare coding variants in CHRNB2 reduce the likelihood of smoking

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity.

The paper investigates PRUNE1 variants causing NMIHBA, showing they disrupt exopolyphosphatase activity and lead to neurodevelopmental defects in mice.