Blizard Institute - Barts and The London

Dr Yung-Yao Lin, BSc; PhD



Centre: Centre for Genomics and Child Health

Telephone: Tel: +44 (0) 207 882 2339


Dr Yung-Yao Lin grew up in Taiwan and obtained his BSc degree from National Taiwan University. He conducted his PhD study in Prof Michael Ashburner’s laboratory (Department of Genetics, University of Cambridge), where he used fruit flies as the model organism to investigate molecular mechanisms governing planar cell polarity. During his postdoctoral training, he developed zebrafish models of muscular dystrophy in Dr Derek Stemple’s laboratory (Wellcome Trust Sanger Institute). He joined the Blizard Institute as a Lecturer in 2013.

Lab news:


Research in the Lin group is focused on muscular dystrophy and mechanisms regulating muscle regeneration. His work has brought novel insights into the pathological mechanisms underlying some types of muscular dystrophy, as demonstrated by several high-profile publications (Nature Genetics, American Journal of Human Genetics, eLife, etc). Recently, the Lin group has established essential expertise in generation, maintenance and differentiation of human induced pluripotent stem cells (iPSCs), as well as CRISPR-mediated genome editing technology. Dr Lin has been supported by the pharmaceutical industry and charities to further exploit CRISPR-engineered human iPSCs for disease modelling and regenerative medicine.

Funding bodies:

  • Barts and the London School of Medicine and Dentistry
  • Royal Society
  • Newlife Foundation for Disabled Children
  • Barts Charity
  • Action Duchenne
  • Pharmaceutical Industry


MSc Regenerative Medicine

Problem Based Learning


Research Interests:

Muscular dystrophies constitute a clinically and genetically heterogeneous group of hereditary neuromuscular disorders, characterized by progressive muscle weakness and wasting, which may be associated with central nervous system (CNS) and cardiac involvement. Currently there is no effective treatment. Different types of muscular dystrophy vary in the age of onset, severity and characteristic clinical features. Interestingly, a number of clinically similar conditions are mapped to distinct genomic loci. Conversely, allelic mutations in the same gene may give rise to a broad phenotypic spectrum, in which the severe and mild ends are clinically classified as different forms of muscular dystrophy.

 To date identified causative gene mutations for muscular dystrophies affect a functionally diverse set of proteins. One major focus is dystrophin and its associated proteins, termed the dystrophin-associated glycoprotein complex (DGC), which provides a mechanical linkage between subsarcolemmal proteins and basement membrane components. A central component of DGC is dystroglycan, which contains peripheral alpha and transmembrane beta subunits. Recent studies suggest that functional glycosylation of alpha-dystroglycan is critical for maintaining muscle integrity.

Current research projects in the Lin lab include:

  1. Molecular mechanisms underlying allelic variants of muscular dystrophies
  2. Disease modeling using model organisms or isogenic pairs of control and patient-specific iPSC
  3. High-content chemical and genetic screens using isogenic control and patient-specific iPSC
  4. Development of novel therapeutic approaches

Our major collaborators are Prof Francesco Muntoni (UCL Institute of Child Health), Dr Pentao Liu (Wellcome Trust Sanger Institute), Prof Paul Chapple (William Harvey Research Institute), Prof Silvia Marino (Blizard Institute), Dr Sue Brown (Royal Veterinary College) and Dr Derek Stemple (Wellcome Trust Sanger Institute).


Research Group Members

Dr Jihee Kim, Postdoctoral Research Assistant

Dr Adam Denny, Postdoctoral Research Assistant

Cristina Morera, Research Technician


1.   Roscioli, T., Kamsteeg, E.J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L.E., Schraders, M., Altunoglu, U., Buckley, M.F., Brunner, H.G., Grisart, B., Zhou, H., Veltman, J.A., Gilissen, C., Mancini, G.M., Delree, P., Willemsen, M.A., Ramadza, D.P., Chitayat, D., Bennett, C., Sheridan, E., Peeters, E.A., Tan-Sindhunata, G.M., de Die-Smulders, C.E., Devriendt, K., Kayserili, H., El-Hashash, O.A., Stemple, D.L., Lefeber, D.J., Lin, Y.Y.*, van Bokhoven, H.*, 2012. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genetics 44, 581-585. (*Joint senior corresponding author)

2.    Lin, Y.Y., White, R.J., Torelli, S., Cirak, S., Muntoni, F., Stemple, D.L., 2011. Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Human Molecular Genetics 20, 1763-1775.

3.    Lin, Y.Y., 2012. Muscle diseases in the zebrafish. Neuromuscular Disorders : NMD 22, 673-684. (Invited review)

View all Yung-Yao Lin's Research Publications at:


Amaia Paredes Redondo, PhD Student

Anna Kowala, PhD Student

Darren Wilson, PhD Student