Featured Researcher – Elaine Mardis, PhD

Featured Researcher – Elaine Mardis, PhD 150 150 Alaina Doklovic

Elaine Mardis, PhD is co-Executive Director of the Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital and holds the Rasmussen Nationwide Foundation Endowed Chair in Genomic Medicine. She is also a Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis is an internationally recognized expert in cancer genomics and immunogenomics, with more than 550 published manuscripts.

Her early work contributed to the Human Genome Project, considered one of the greatest scientific feats in history. She co-led the effort to sequence and analyze the first cancer genome using massively parallel sequencing technology and was integral to large-scale cancer genomics discovery projects including The Cancer Genome Atlas, and the Pediatric Cancer Genome Project.

Her ongoing research interests pursue integrated molecular characterization of both pediatric and adult cancers with a focus on precision oncology. Most recently, her research has been oriented toward translational aspects of cancer genomics, specifically identifying how the cancer genome changes with treatment, including acquired resistance, the use of genomics in understanding immune therapy response, and the clinical benefit of cancer molecular profiling in the pediatric setting.

She leads an NCI-funded study that performs clinical molecular profiling of pediatric cancers which has tested more than 2500 cases to-date. Dr. Mardis serves as an advisor to international cancer centers including the DKFZ (Germany), Institute for Molecular Medicine (Portugal), Ontario Institute for Cancer Research (Canada), and four US NCI-designated cancer centers. In 2019, Dr. Mardis was elected a Fellow of the American Association for Cancer Research Academy and a member of the U.S. National Academy of Medicine. For International Women’s Day 2024, Dr. Mardis was recognized in Reuter Events’ Top 20 Trailblazing Women in Healthcare.

Read on to learn more about Dr. Mardis’s work and research career.

What was your path to your current role?

I was in graduate school with and have worked with Richard Wilson, PhD, the Executive Director of the Steve and Cindy Rasmussen Institute for Genomic Medicine, for nearly my entire career. Rick has always been a supportive and enthusiastic research partner and has helped me shape my career path at many junctures. I think he deserves much of the credit for providing such great advice, sponsorship and guidance over the years.

Why did you decide to pursue your work at Nationwide Children’s?

Nationwide Children’s had a strategic goal to include genomics into the care of pediatric patients, in areas where it made sense and would serve to further best outcomes. That goal overlapped well with my strong desire to move genomics from discovery to clinical application. So, it was a perfect match in many ways—there are numerous areas of our hospital’s broad practice portfolio where genomics can make a difference and it has been incredibly satisfying to work with providers across many of these areas, discovering how we can impact the lives of our patients and their families.

What is your favorite part of your job?

My favorite part is getting to work with the committed and highly capable group of individuals we have recruited into IGM. What we do really is team science, and the IGM team has such an amazingly diverse set of expertise, insights and the passion to make a difference – it’s inspiring every day. I also am continually encouraged and grateful for the engagement of our providers across multiple sub-specialties! We are all learning together, and the net result already has been transformational for many patients at our hospital and across the United States, but much more work is yet to be done.

Fun Facts About Dr. Mardis

What fictional character would you most like to meet and why?

I’m a child of the 70’s – Wonder Woman.

What would be your dream job if you could do anything (that wasn’t working in research)?

I would love to race Formula 1.

What’s your favorite food?

Bacon. I love to grocery shop at The Hills market on 315N, and their butchers make all the many types of bacon they offer in-house. It is extraordinary!

Favorite band?

The Who.

Favorite way to relax?

Walking my two mini Goldendoodles, Hannah and Harley, or playing golf.

How does your research serve our patients and our community?

Our clinical laboratory has been involved in patient testing for many years, providing information critical to the diagnosis and treatment of patients, including clinical trial enrollment, gene therapy indications and many other impactful results. With the expansion of genomic testing, we can similarly impact diagnosis and/or treatment for patients. For example, genomic evaluation of a patient and family (Mom and Dad) can uncover changes in the child’s DNA (genome) that identify the underlying reason for a specific diagnosis or syndrome. Identifying this underlying cause is very satisfying because often, parents and patients just need a “name” for what has caused the disease or syndrome, but increasingly the disease or syndrome can be addressed therapeutically with that genetic information in-hand. We also can determine whether the changes are inherited from Mom and/or Dad or have just spontaneously occurred during development. This information informs the parents about risks for future pregnancies and may indicate a need to test siblings.

About the author

Alaina Doklovic is a Marketing Specialist for Research Communications at Nationwide Children’s Hospital. She received her BS in medical anthropology and English from The Ohio State University. Her passions for science and health, combined with her desire to help others, motivated her to pursue a career in which she could actively help improve patient outcomes and scientific research through writing.