Seng H Cheng, Ph.D.

Senior Vice President & Chief Scientific Officer, Rare Disease

I joined Pfizer in 2018 and am a Senior Vice President & Chief Scientific Officer in the Pfizer Rare Disease Research and Development Unit. I am responsible for setting the strategy to build a leading rare disease franchise by developing solutions that profoundly improve the health of patients.

I obtained my BSc and PhD in Biochemistry at the University of London and trained as a postdoctoral fellow at the National Institute of Medical Research, U.K., in the field of tumor biology.

Prior to joining Pfizer, I was a Group Vice President of Genetic Diseases Science at Genzyme for 25 years researching solutions for patients with rare diseases, notably lysosomal storage disorders and cystic fibrosis. Most recently, I was the Global Head of Research of Rare Diseases at Sanofi leading researchers in the pursuit of transformative treatments for patients living with metabolic, neurological, neuromuscular, renal, pulmonary and hematological diseases. During my tenure at these organizations, I gained experience in bringing projects from discovery through to clinical development and approval.

Notable scientific contributions include demonstrating the role of phosphorylation in regulating the tyrosine kinase activity of proto-oncogenes and elucidating the underlying molecular basis for the most common form of cystic fibrosis. I have co-authored 274 research articles and reviews, and is a named co-inventor on 46 issued US patents in the area of biotechnology.


As the Chief Scientific Officer at Pfizer, I am charged with building upon the foundation of rare disease-associated initiatives at Pfizer, with emphasis on gene therapy as an emerging therapeutic paradigm. We aspire to consolidate our leadership in non-malignant hematological and inherited metabolic diseases and expand our presence in rare neuromuscular and neurological diseases. In addition to these core areas of focus, the Rare Disease Research Unit will explore opportunities that afford solutions for patients with rare nephrological, pulmonary and cardiovascular diseases.


  1. Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.
    Proc. Natl. Acad. Sci. USA 2017, 114:2699-2704
    Sardi, SP, Viel, C, Clarke, J, Treleaven, CM, Richards, AM, Park, H, Olszewski, MA, Dodge, JC, Marshall, J, Makino, E, Wang, B, Sidman, RL, Cheng, SH, and Shihabuddin, LS.
  2. Intravitreous injection of AAV2.sFLT01 in patients with advanced neovascular age-related macular degeneration: a phase 1 open-label trial.,
    Lancet 2017; 390:50-61.
    Heier, JS, Kherani, S, Desai, S., Dugel, P, Kaushal, S, Cheng, SH, Delacono, C, Purvis, A, Richards, S, Le-Halpere, A, Connelly, J, Wadsworth, SC, Varona, R, Buggage, R, Scaria, A, Campochiaro, PA.
  3. Heparan sulfate binding influences AAV2 transduction of the retina and brain.
    Gene Ther. 2018, 25:205-219.
    Sullivan, J, Stanek, L, Lukason, M, Bu, J, Russell, S, Barry, E, O’Riordan, C, Shihabuddin, L, Cheng, SH, and Scaria, A. (2018).
  4. Fetal gene therapy for neurodegenerative disease of infants.
    Nature Med. 2018; 24:1317-1323.
    Rahim, AA, Mattar, CN, Wong, AMS, Massaro, G, Sirka, E, Buckley, SMK, Herbert, BR, Karlsson, S, Perocheau, DP, Burke, D, Heales, S, Richard-Londt, A, Brandner, S, Hubecker, M, Priestman, DM, Platt, FM, Mills, K, Biswas, A, Cooper, JD, Chan, JKY, Cheng, SH, and Waddington, SN.
  5. Inhibiting neutral amino acid transporter for the treatment of phenylketonuria.
    JCI Insight 2018; 3:e121762
    Belanger, AM, Przybylska, M, Gefteas, E, Furgerson, M, Geller, S, Kloss, A, Cheng, SH, and Zhu, Y, and Yew, NS.


University of London, UK, Biochemistry, BSc, 1979
University of London, UK, Biochemistry, PhD, 1983
National Institute of Medical Research, London, Biochemistry, Postdoctoral Fellow, 1985


College Scholarship from the University of London, UK, 1979
Postdoctoral Fellowship from the Medical Research Council, London, UK, 1983
Genzyme Vice-President's Achievement Award, 1994
Genzyme President's Eagle Achievement Award, 1996

The mission of the RDRU is to build a leading rare disease franchise by developing solutions that profoundly improve the health of patients