Institute for Genomic Medicine :: Nationwide Children's Hospital

Institute for Genomic Medicine

The Institute for Genomic Medicine (IGM) at Nationwide Children's Hospital was created in 2016 as one of the first ventures into pediatric personalized genomic medicine for children's hospitals.

About the IGM

Recognizing that the root cause of many childhood diseases can be traced directly to the genome, the vision for IGM – optimizing patient care through translational genomics – began taking shape just a few years ago. This vision reached fruition in 2016 with the recruitment of preeminent scientists Elaine Mardis, PhD, and Richard Wilson, PhD from Washington University-St. Louis and the expertise of Nationwide Children's faculty, including Julie Gastier-Foster, PhD , and Peter White, PhD .

The IGM combines a robust clinical laboratory with genome scientists and clinical geneticists to optimized patient care. Collaborative interactions between clinicians, physician-scientists, and basic science investigators are emphasized to quickly transition novel research results into advanced diagnostics, using state-of-the-art technology platforms.

With the Institute's world-renowned experts, genome-based testing is moving into the mainstream of pediatric diagnosis and treatment, making the results accessible and meaningful for patients and families.

Areas of Research

At Nationwide Children's, some current examples of genomic research include the following topics:

  • Heart Disease
  • Neonatal Medicine
  • Cancer Diagnosis and Treatment

Congenital Heart Disease

Congenital heart disease (CHD) is the most common type of birth defect, affecting approximately 40,000 births per year in the United States. While some types of CHD arise in conjunction with other birth defects as part of a genetic syndrome, such as trisomy 21, the majority of cases occur as isolated birth defects, with their causes unknown.

A study at Nationwide Children's has used whole exome sequencing (WES) to identify the genetic cause of CHD in patients with a family history of CHD. It is the first study to demonstrate that date from WES can be applied to clinical testing of CHD.

Learn more using WES to find the cause of CHD in at-risk patients .

Neonatal Medicine

Nationwide Children's, in collaboration with The Ohio State University, formed the Ohio Perinatal Research Network (OPRN) in an effort to better understand preterm birth and why it happens. A key component of the network is the Perinatal Research Repository (PRR), where clinical data and specimens are stored, as well as specimens from the infant's mother and/or father, for current and future research.

Through the combined efforts of the PRR and the IGM, perinatal research is thriving at Nationwide Children's. One project involves the genomic sequencing of a cohort of patients to identify the genetic composition of preterm infants with good outcomes versus those who developed significant complications. Another program is designed to better understand predisposing genetic factors in preterm infants with bronchopulmonary dysplasia .

Cancer Diagnosis and Treatment

Pediatric acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, comprising 75% of pediatric leukemia cases. Although the cure rate is 80-90 percent, hundreds of children with ALL still relapse every year, and a subset of genotypes with ALL have very poor outcomes.

The IGM Clinical Laboratory serves as the Children's Oncology Group (COG) ALL molecular reference laboratory and tests ALL patients from around the globe. A recent study by the COG is using sequencing and screening technologies to identify a subset of patients who have drastically poor outcomes, leading to a more targeted, precise treatment for children with this specific form of ALL.

The goal of pediatric cancer treatment includes risk stratification, early intervention and targeted therapy. This study demonstrates the power of genomic medicine to have a positive, precise impact on cancer patients.

Recent Institute News

Richard Wilson, PhD and Elaine Mardis, PhD

Dr. Wilson and Dr. Mardis joined Nationwide Children's Hospital as executive director and co-executive director of the Institute for Genomic Medicine in October 2016.

Collectively, they have played key roles in notable federally funded genomics research initiatives, including the Human Genome Project, The Cancer Genome Atlas, the Human Microbiome Project and the 1,000 Genomes Project.

Richard Wilson
Elaine Mardis

Dr. Wilson was named the world's most cited researcher in 2013 by Thomson Reuters' ScienceWatch with 15 significantly cited papers. Among numerous honors, awards and notable positions, he is a fellow of the American Association for the Advancement of Science (AAAS), a member of the International Cancer Genomics Consortium, and former co-chair of the executive committee for The Cancer Genome Atlas of the National Cancer Institute, where he remains a member of the Steering Committee.

Dr. Mardis is an internationally recognized expert in cancer genomics who received the 2016 Morton K. Schwartz award from the American Association for Clinical Chemistry. She also was included on the 2013 Thomson Reuters' list of most cited researchers, one of only two women listed. Among her several prominent roles, Dr. Mardis is a member of the Board of Directors for the American Association for Cancer Research and a member of the Supervisory Board of Qiagen N.V. She is editor-in-chief of Molecular Case Studies and an associate editor of Molecular Cancer Research, Disease Models and Mechanisms and Annals of Oncology. In 2013 she was featured in Discover magazine's "The Year in Science." In 2017 she will be awarded the Luminary Award from the Precision Medicine World Conference.

Previously Drs. Wilson and Mardis led the McDonnell Genome Institute at Washington University, as one of only four genomics centers funded by the National Human Genome Research Institute. In 2008, their team became the first to use new DNA sequencing technology to compare the tumor DNA of a cancer patient with that same patient's normal tissue DNA, demonstrating that genetic differences between tumor and normal gene sequences could identify mutations driving cancer growth. This foundational work resulted in an international effort to decode cancer genomes and unlock their secrets to improve treatments and outcomes.

Their foundational contributions to discovery research in pediatric genomics have been significant. Drs. Wilson and Mardis co-led the Pediatric Cancer Genome Project, designed to sequence the genomes of more than 750 children with some of the most devastating cancers. Their work has already led to a number of key findings including changing the course of therapy for a deadly form of leukemia, known as Ph-like ALL.

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Dr. Elaine Mardis has played a key role in research initiatives, including the Human Genome Project, The Cancer Genome Atlas, the Human Microbiome Project and the 1,000 Genomes Project.
Dr. Richard Wilson is one of the most respected and prolific names in science today. He serves as the co-director of our Institute for Genomic Medicine at Nationwide Children's Hospital.
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