SELF EXAM:

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.