Rare Disease Research
- Occupation: Physician Scientist that develops treatments for rare genetic diseases and currently President, Kakkis EveryLife Foundation
- Alternative career choice: Pianist-songwriter. The personal power of writing music and performing was experienced early but too bad, I did not practice enough.
- What do rock stars and scienctists have in common: Both rock stars and scientists start a project with a blank slate, and take a new idea, flesh it out with everything they know, and try to make a statement about some truth in life.
- Musical Instrument I Play: Piano
- I tend to approach life: There's no time to waste. Someone is waiting to get treated so hurry up and get there.
- Biggest misconceptions about me or my work: Sometimes the desire to get it right can feel like I am being negative, but in reality it is an intense and precious affection for the ultimate beauty in getting it right.
- Worst part-time job ever: Veterinary assistant holding cats during exams and shots and I was allergic to cats.
- Longest med school study session: This has to be studying for either anatomy lab or the National Board examinations, which was probably about 12 hours or so.
- Best moment in medicine/research: Standing at the bedside of Ryan Dant, a kid with the disease MPS I, and helping his parents push the infusion pump button sending an enzyme we made that his body was missing, into his bloodstream. His parents had raised money over several years any way they could to give to me to save their son, and we made it.
About My Research
Disease Area: Rare genetic diseases that affect the body's chemistry are my focus. Many of these diseases may be treatable.
Research Area: Discovering compounds that can alter a genetic disease and figuring out how to make them, and use them.
Science Impact/Accomplishments or Goal: When I started in 1991, there was little hope that diseases as rare as MPS diseases would ever have a chance to be treated because they were too rare and few cared. The tragedy was that we finally had the science to do the treatments and after 30 years, we couldn't figure out how to get these kids treated because of our system. I could not accept that and was determined to get the treatment to patients anyway I could. I did all the work in a small lab, and families helped fund us, and then it happened, we saved some patients. Now, no one is doubting that very rare patients deserve treatment and many treatments for MPS and other diseases have been developed.
Research Description: I look at the fundamental problems in rare genetic diseases and figure out if there is way to fix the problem. Sometimes there is a special tool called an enzyme missing, that we can make in the lab and give back to the patient. Sometimes, there is a vitamin-like molecule or other chemical we can give that enhances or increases the action of a mutant enzyme. One way or another, we search for solution to the genetic defect and then figure out how to turn this science into medicine."
Dr. Kakkis is best known for his work over the last 18 years to develop novel treatments for 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 patient organization formed by Mark and Jeanne Dant for their son Ryan, called the Ryan Foundation.
Aldurazyme development was later supported by BioMarin™ and eventually their partner Genzyme™ leading to FDA approval in 2003. During his tenure at BioMarin, Kakkis guided the development and approval of two more treatments for rare disorders, MPS VI and PKU and has contributed to the initiation of seven other treatment programs for rare disorders, three of which are now in clinical development.
However after 11 years at BioMarin, Kakkis became frustrated that many potential treatments would not ever get developed because the costs and difficulties in development were too great for these ultra-rare diseases. As a physician, this was unacceptable, so Kakkis left industry to fund an effort to change the system. In early 2009, Kakkis founded the Kakkis EveryLife Foundation to accelerate biotech innovation for rare diseases. The Foundation initiated the CureTheProcess Campaign dedicated to improving the regulatory and clinical development process for rare diseases. In just over a year, 158 patient organization and physician society partners have endorsed the Campaign.
Kakkis spent the last year working closely with the Food and Drug Administration (FDA) and Congress to improve the regulatory process for rare diseases. His efforts and goals were recognized in the passing of the Brownback Brown Amendment to the 2010 and 2011 FDA appropriation bills. The bills require the FDA to review their rare disease regulatory policies and look for ways to improve. The FDA is supportive of the bills’ intent and is working on a report to Congress and a plan for improvements by the deadline of September 2011. Over the next 12 months the Foundation is sponsoring a five workshop series to build some of the new science needed to help the FDA draft the new guidances or policy to improve the regulatory process for rare diseases.
The Kakkis Family and the Foundation are major supporters of projects that build the rare disease community such as RareArtist.org, the EveryLife Art Contest, Global Genes Project, National MPS Society, National Organization for Rare Diseases (NORD), Rare Disease Legislative Advocates and the Society for Inherited Metabolic Disorders (SIMD)’s North American Metabolic Academy (NAMA). Dr. Kakkis sits on NORD’s Board and the National PKU Alliance’s Scientific Advisory Committee.
Kakkis is board certified in both Pediatrics and Medical Genetics. He graduated from Pomona College, magna cum laude and received combined MD and PhD degrees from the UCLA Medical Scientist Program and received the Bogen prize for his research. He completed a Pediatrics residency and Medical Genetics Training Fellowship at Harbor-UCLA Medical Center. 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.
Kakkis lives with his wife Jenny, and three children, Albert, Joseph and Katerina in Marin, CA.