Jeff Juapen Ruan, Gaucher Disease Specialist

Jeff Jiapeng Ruan PhD, MSc

Associate Research Scientist in Medicine
(Digestive Diseases)

My research uses medical genetics, clinical biomarkers, and animal models of Gaucher disease (GD) to uncover the genetic roots of GD and other lysosomal storage disorder (LSD) related diseases, such as neurodegenerative diseases like Parkinson’s (PD). We have developed WES and PacBio techniques to

  • conduct genetic analyses of GD and determine disease type,

  • predict pathogenicity, and

  • work toward improving the clinical outcomes of GD/LSDs.

Our goal is to adapt advanced methods of diagnosis, therapy, and reagent delivery to speed up the next generations of curative genetic therapy.

Education and training

●  PhD - Shanghai Institute of Biochemistry, Chinese Academy of Science (1998)

●  MSc - Nanjing University (1991)

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