Dr. Emil Kakkis
Emil Kakkis, MD, PhD
Kakkis EveryLife Foundation, President
“No disease is too rare to deserve treatment”
Dr. Kakkis is best known for his work over the last 18 years to develop novel treatments for neglected rare disorders. He began his work in a research bungalow at Harbor-UCLA working with minimal funding and support to develop an enzyme replacement therapy (Aldurazyme®) for the rare disorder MPS I. The struggle to get the therapy translated from a successful canine model to patients succeeded due to the critical financial support of a new patient organization formed by Mark and Jeanne Dant for their son Ryan, called the Ryan Foundation.
Kakkis’ collaboration with the Ryan Foundation in the early development of Aldurazyme was highlighted in a 60 Minutes II segment aired in April 2001 (“Saving Ryan”), and Reader's Digest article in May 2001. Aldurazyme development was later supported by BioMarin™ and eventually their partner Genzyme™ leading to FDA approval in 2003. Dr. Kakkis’ talk at the NORD Summit recounted the challenges encountered in the Aldurazyme development story and the critical lessons learned that can guide the changes needed in the development process to accelerate new innovation in treatments for rare disorders.
During his tenure at BioMarin, Dr. Kakkis guided the development and approval of two more treatments for rare disorders, MPS VI and PKU and has contributed to the initiation of 7 other treatment programs for rare disorders, three of which are now in clinical development. Dr. Kakkis has left his position as Chief Medical Officer of BioMarin to pursue changes in the drug development and regulatory system. His focus will be on improving the diagnosis and treatment of rare disorders; specifically the process by which treatments for rare disorders are tested and approved.
Dr. Kakkis graduated from Pomona College, magna cum laude and received the Vaile Prize in Biology for his thesis research in 1982. He received a combined MD and PhD degrees from the UCLA Medical Scientist Program in 1989 and received the Bogen prize for his research on c-myc oncogene regulation. He completed a Pediatrics residency at Harbor-UCLA Medical Center in Torrance, CA and completed his fellowship training there in the UCLA Intercampus Medical Genetics Training Program in 1993. He became an assistant professor of Pediatrics at Harbor-UCLA Medical Center from 1993-1998 where he initiated the enzyme therapy program for MPS I. He is board certified in both Pediatrics and Medical Genetics. He joined BioMarin in 1998 and held various positions including Chief Medical Officer from 2006 to 2009. He received the Lifetime Achievement Award from the National MPS Society for his work on Aldurazyme. He has authored numerous scientific articles on MPS I, immune tolerance during enzyme therapy, intrathecal enzyme therapy and studies on treatments for MPS VI and PKU.