When did you first decide you wanted to work with rare diseases? Please share what led to that decision.
Working in mouse genetics for as many years as I have, it would be impossible not to see the potential of single mutations that occur in mice and their application to rare disease patients. I also have seen the emphasis of our medical system and drug development companies on common diseases. I believe that every child/person has the right to the highest quality of life they can achieve, regardless of how rare their condition may be.

Tell us a little about any current/previous work with other rare diseases. For example, have you ever been a part of a team that has worked on gene therapy/other drug development initiatives before, or has brought a potential treatment to a clinical trial? What has been one of your most rewarding experiences?
I spent years working in Spinal Muscular Atrophy. There, I met the most talented, selfless, and wonderful group of scientists and clinicians, all focused on the same goal. It was an epiphany for me of the power of team science–what could be accomplished together as so much more powerful than any individual. Since then, I have worked on numerous rare diseases and have structured my program at The Jackson Laboratory to reach as many families as possible.

Why did you choose to work with the INADcure Foundation?
We think there is incredible potential to treat this disease and the mouse models match very well with the patient clinical manifestations.

What recent breakthroughs have gotten you most excited for the future of rare disease?
Gene-based therapies are disruptive technologies that have the potential to treat rare diseases and the source of the genetic mutation. This, combined with earlier diagnosis has the potential to treat rare disease patients in a meaningful way.

What is your favorite part of the work you do?
Working with patient communities

What do you do to relax (or have fun)?
I golf with good friends

If you could have a lifetime supply of anything, what would it be?
Time

Last (or Best) book read?
I’m a fan of any mystery

If you could have one superpower, what would it be?
The power to communicate with animals