91��ɫ

Jeff Green

�There it is!�

Camila Fuchs points to a monitor. A cluster of fluorescent green colours light up the screen.

Within seconds, there�s movement � beating heart cells.

She and her colleagues smile proudly. They have good reason.

The team, based in 91��ɫ�s Faculty of Medicine, is leading innovative studies turning patient skin cells into heart cells with the long-term goal of better understanding rare genetic disorders, including heart disease.

�Especially exciting�

Led by Dr. Jessica Esseltine, an associate professor in the Division of BioMedical Sciences, the group uses the latest in gene-editing technology to accomplish the feat.

Specifically, the researchers study patient-induced pluripotent stem cells (iPSCs), which are created by reprogramming patient skin or blood cells.

Once reprogrammed, iPSCs can become any cell type in the body � including heart cells.

�It is magical to watch cells change shape before your very eyes,� said Dr. Esseltine. �It is especially exciting to see beating heart cells in a dish.�

Ms. Fuchs (B.Sc.(Hons.)�23, M.Sc.�26), who works as a science technician with Dr. Esseltine, is quick to agree.

�There�s something incredible about watching cells that originated from a patient begin to contract in a dish,� said Ms. Fuchs, who grew up in China before coming to Newfoundland and Labrador to complete her studies at 91��ɫ with Dr. Esseltine.

Building on breakthroughs

Understanding heart disease is critical to saving lives; it has been the focus of 91��ɫ researchers for decades.

In fact, Dr. Esseltine and her team�s work builds on a 91��ɫ breakthrough on inherited heart disease in Newfoundland and Labrador patients.

�[This research] brings the prospect of true personalized medicine ever closer.�� Dr. Kathy Hodgkinson

Nearly two decades ago, colleagues from the Faculty of Medicine � including Drs. Terry-Lynn Young, Kathy Hodgkinson, Sean Connors and Daryl Pullman � made the  of a cardiac muscle disorder known as arrhythmogenic right ventricular cardiomyopathy (ARVC), often referred to as the Newfoundland Curse. The researchers even identified the gene responsible: TMEM43.

�I am so grateful that Dr. Esseltine has taken on the challenge of the pathophysiology underlying these complex cardiac families in Newfoundland and Labrador,� said Dr. Hodgkinson. �It brings the prospect of true personalized medicine ever closer.�

Making a difference in people�s lives is what drew PhD student Tayyebeh (Sareh) Khoshbakht to the group�s work.

Her research project focuses on a unique Newfoundland family. Some members carry two harmful mutations in heart muscle genes, but are completely healthy.

She says the genetic paradox got her thinking: How can two wrongs make a right?

�Using patient stem cells, I�m growing beating heart cells in a dish to uncover the molecular mechanism behind this natural protection,� said Ms. Khoshbakht, who is originally from Iran. �And knowing that this work could one day help develop better treatments for people with cardiomyopathy keeps me motivated.�

�Enthusiasm, hope and excitement�

Team member Ashley Baker�s (B.Sc.(Hons.)�22, M.Sc.�26) interest in genetics began in high school in Grand Falls-Windsor, N.L.

She originally joined the team as an undergraduate student under the supervision of Dr. Hodgkinson. Upon completion of her master�s degree, she became a research assistant.

�I always knew I wanted to stay in Newfoundland and Labrador for the long term, so learning about the unique genetic landscape of the province really drew me towards this path,� Ms. Baker said. �I became interested in this project specifically because I wanted to pursue research that involved working with patients directly.�

From researchers, students and patients, she says everyone involved has an infectious enthusiasm, hope and excitement surrounding the project.

�It�s hard not to feel inspired.�

And, the team�s work is receiving national praise, including a , a national not-for-profit organization that aims to power life-saving therapies and technologies through regenerative medicine research for the benefit of all.

The award enables the researchers to build and expand a world-class research program focusing on the people of Newfoundland and Labrador, says Dr. Esseltine.

�Importantly, we are also training the next generation of highly skilled researchers to continue innovating and exploring treatment options,� she said.

Dr. Hodgkinson concurs.

�Graduate students are the lifeblood of continuing research excellence in Newfoundland and Labrador.�