Gustavo H.B. Maegawa, MD, PhD, FACMG

Columbia University Medical Center

Comprehensive Treatment Center

Specialty: Genetics, Physician

Number of years treating Gaucher patients (information provided by specialist)
11 – 15 years

Does the physician participate in the ICGG/Registry?
Yes

Does the physician have an active clinical or lab research interest?
Yes

Please describe:
My lab is devoted to the identification of small molecule therapies based on the pathogenetic mechanisms of different lysosomal diseases. In addition, we aim to identify and characterize molecules that can tackle the disease process in the central nervous system and arrest and/or prevent the neurodegeneration associated with several lysosomal storage diseases.

Is the physician involved with patient advocacy?
Yes

Please describe:
Collaborating with different foundation initiatives and also participating in patient and physician's awareness groups.