By Erin Horan

From a series on researchers and innovators at Boston Children’s Hospital.

With all of the recent buzz about precision medicine, it’s no wonder that William Pu, MD is gaining recognition for his innovative application of stem cell science and gene therapy to study Barth syndrome, a type of heart disease that severely weakens heart muscle. Pu’s research was recently recognizedby the American Heart Association as one of the top ten cardiovascular disease research advances of 2014.

Can you describe your work and its potential impact on patient care?

We modeled a form of heart-muscle disease in a dish. To do this, we converted skin cells from patients with a genetic heart muscle disease into stem cells, which we then instructed to turned into cardiomyocytes (heart-muscle cells) that have the genetic defect. We then worked closely with bioengineers to fashion the cells into contracting tissues, a “heart-on-a-chip.”

How was the idea that sparked this innovation born?

This innovation combined the fantastic, ground-breaking advances from many other scientists. It is always best to stand on the shoulders of giants.

In 2007, researchers discovered a way to take any cell and re-program it into a stem cell. These stem cells could then be turned into any kind of cell and then re-cultured indefinitely, opening the door for a whole host of new studies.

Another advance we incorporated is the use of bioengineered heart tissues to model disease in a dish. I saw a talk by Kevin Kit Parker, PhD, of the Wyss Institute for Biologically Inspired Engineering, who was building hearts on a chip with cells from rats. We were excited to join forces to model human heart muscle diseases on a chip.

Through personal contacts, we also learned early on about exciting work in the lab of George Church, PhD, also of the Wyss Institute. We were able to adopt this technology to precisely change the genetic material of cultured cells.

If you weren’t innovating at Boston Children’s, what would your dream job be?

An inventor. I would like to learn how things work and then use the information to improve lives. (That description is very much like my job now; but in a dream world, it would come with unlimited funding!)

Which innovator or scientist (current or historic) would you most like to have dinner with?

Thomas Edison. He was an original thinker who was able to take new ideas and make them a reality for everyone’s benefit. I’d like to learn how he came up with his ideas and prioritized which ones to invest in.

If you were CEO for one day, what would you do?

Increase investment in research.

Stem cell research has advanced rapidly within the last decade. What is your dream discovery?

There are two “holy grails.” First, we’d like to make models of human heart disease on a dish that could be used to individualize and optimize patient therapy. Our “heart-on-a-chip” study was a step in this direction, but there is a long way to go before it can be used to inform patient care.

Second, we’d like to be able to cure patients by replacing their damaged heart muscle cells with their own genetically corrected cardiomyocytes derived from stem cells. Further studies will reveal whether this kind of targeted, “precision” medicine will effectively personalize treatment.

What innovation could you not live without?

The computer. It is a key productivity engine, as well as a social and entertainment hub.

What’s your most unconventional skill?

I enjoy computer gaming. As a teen, I loved to write computer games, but now I just like playing. Unfortunately, I am not very good; my 14 year-old son regularly schools me in our current favorite, StarCraft II.