Ponto cerebellar hypoplasia ( PCH ) is a nervous system disease related to brain development. The disease will cause serious damage to the pontine and cerebellar functions. Patients usually have an onset when they are young, and the disease will become more and more serious as it progresses. So far, more than ten genes have been found to be related to the genesis and development of PCH, most of which are related to RNA processing.

The research team of Professor Da Jia of West China Second University Hospital has recently published in PNAS ( IF=9.58 )  ( Proceedings of the National Academy of Sciences of the United States of America ) a research paper titled “Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.” In this study, zebrafish model, structural biology and cell biology are used to explain the important role of the C-terminal domain of TBC1D23 in vesicle transport and nerve development. It is confirmed that the lack of vesicle transport is an important reason for PCH, which represents an important progress in exploring the molecular mechanism of PCH.

Being a professor of West China Second University Hospital/State Key Laboratory of Biotherapy and doctoral student advisor, Da Jia is primarilyengaged in the study of the molecular mechanism of vesicular transport and related diseases ( including neurological diseases, tumors, etc. ).  He has published 27 research papers in international journals including Nature. His papers have been cited for over 3,100 times. Since joining Sichuan University at the end of 2015, he has published in the capacity of a corresponding author many research papers or reviews in PNAS ( 2018, 2019 ), Nature Communications ( 201 6), STTT ( 2016, 2017 ), JBC ( 2019 ), Traffic ( 2018 ) and so on. The research results of the research team were selected into "top 10 basic scientific progress" of Sichuan University in 2018.