Genomics for precision pediatric medicine: A longtime scientific collaborator and research partner to the GSC, Dr. Mardis is applying genomics to transform medicine. She is one of 16 speakers that will present at the GSC’s 20th Anniversary Symposium, November 21, 2019. 

Elaine MardisWith just two degrees of separation from Dr. Fred Sanger, Dr. Elaine Mardis has been contributing to the field of genomics essentially since it began, giving her a unique perspective on how far we have come. 

“I have really been a part of each stage of DNA sequencing technology evolution, from slab gel radiolabeled sequencing through to Next-Generation sequencing,” says Dr. Mardis, “but I think what people may not appreciate is how the field of bioinformatics has grown symbiotically alongside genomics.”

Dr. Mardis obtained her PhD in Chemistry and Biochemistry from the University of Oklahoma, working under the supervision of Dr. Bruce Roe (who himself learned Sanger sequencing at the MRC during a sabbatical in Sanger’s lab). There, she gained experience with DNA sequencing at a time when the Human Genome Project was just on the horizon. Following graduate school, Dr. Mardis joined BioRad Laboratories where she obtained skills and expertise that would prove to be extremely valuable for the role she later played as part of that endeavor.

In 1993, she joined the faculty of Washington University School of Medicine where she contributed significantly to the sequencing and analysis of the human genome and played a substantial role in the development of massively parallel sequencing technologies for cancer genomics. It was also where she first met Dr. Marco Marra, a post-doctoral fellow at the time, which was the beginning of what would become an over twenty year scientific association.

“Marco, Steve and their colleagues at the GSC have done a tremendous job of pushing the boundaries of genomics technology early,” says Dr. Mardis, “And a lot of the Next-Generation Sequencing computational tools that the community uses have come from GSC researchers.”  

Dr. Mardis is now the co-Executive Director of the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital and is the Rasmussen Endowed Chair of Genomic Medicine. She is also a Professor of Pediatrics at The Ohio State University College of Medicine. Her current research is focused on the genomics of pediatric diseases including cancer and epilepsy.

“We have a multitude of different ways to apply genomics to the care, diagnosis and treatment of pediatric patients. We are very much at the interface between research and medicine,” says Dr. Mardis.   

Dr. Mardis views this interface as a virtuous cycle: impacting the lives of individual patients while also opening up new areas of exploration. Having seen first-hand how far genomics has come since its beginnings, she is excited about the future of the field:  applying genomics to transform the way we practice medicine.

At the GSC 20th Anniversary Symposium, Dr. Mardis will speak about the progress her group has made using genomics as part of precision medicine in the pediatrics setting. She is looking forward to reuniting with many of the GSC scientists and alumni.

“I have been fortunate over the years to have had interactions with many faculty and trainees from the GSC,” says Dr. Mardis, “Looking back 20 years, it is not just cutting edge science, but also their training of the next generation of genomics researchers who go out and perpetuate the same kind of attitude and ambition embodied in the GSC leadership. To me, that is the legacy you want to leave as an institution.”      

Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks.  She serves as an associate editor for three peer-reviewed journals and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press.

The recipient of numerous awards, including the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016, Dr. Mardis has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters/Clarvate Analytics.

Dr. Mardis is the current President of the American Association for Cancer Research (AACR) and has been a member since 2007; she was the program committee chair for the 2018 AACR Annual Meeting and was elected a Fellow of the AACR Academy in 2019.

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