Senior Leadership Richard K. Wilson, PhD Executive Director Elaine R. Mardis, PhD Co-Executive Director Catherine E. Cottrell, PhD, FACMG Senior Director, Clinical Laboratory Peter White, PhD Senior Director, Computational Genomics Elena Chiappinelli, MSW, MHA Administrative Director Research Faculty
Christopher W. Bartlett, PhD Tracy A. Bedrosian, PhD Bimal P. Chaudhari, MD, PhD Jayajit Das, PhD David A. Greenberg, PhD Mark E. Hester, PhD Andrzej Kloczkowski, PhD Daniel C. Koboldt, MS Christian L. Lauber, PhD Paola Malerba, PhD Katie E. Miller, PhD Prajwal Rajappa, MD, MS William C. Ray, PhD Rolf W. Stottmann, PhD Alex H. Wagner, PhD Clinical Laboratory Directors Melanie Babcock, PhD Jesse M. Hunter, PhD Marco L. Leung, PhD, FACMG Mariam T. Mathew, PhD, FACMG Shalini C. Reshmi, PhD, FACMG Kathleen M. Schieffer, PhD, MLS (ASCP)
Managers
Adam C. French, MHA - Business and Financial Operations Jason P. Garee, PhD - Clinical Lab Operations Ben J. Kelly, MS - Translational Bioinformatics Ashley L. Kubatko, MS, PMP - Data Operations Grant E. Lammi - Computational Solutions & Cloud Infrastructure Aimee E. McKinney, CG, ASCP - Program Manager, Next Generation Sequencing Anthony R. Miller, PhD - Technology Development Operations Nissa L. Rodgers, MB(ASCP)CM - Program Manager, Molecular Genetics and Microarray Jessica L. Scholl, MS, MB(ASCP)cm – Quality Assurance and Accessioning Elizabeth A. Varga, MS, CGC - Clinical Genomics Research and Development Amy N. Wetzel, PhD - Genomic Services Operations Genetic Counselors
Samantha S. Choi, MS, LGC Maggie E. Humphrey, MS, LGC Theodora Jacobson Matthews, MS, LGC Danielle E. Mouhlas, MS, LGC Taylor A. Porter, MS, CGC Amy Siemon, MS, CGC Rachel Supinger, MS, CGC Elizabeth A. Varga, MS, CGC
Meet the Senior Leadership of the IGM 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, the Genome Reference Consortium, and the 1,000 Genomes Project.
Richard Wilson, PhD Dr. Wilson is an internationally recognized expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans (1990-98) – and contributed substantially to the sequencing and analysis of the human genome (1988-2003). He has published over 400 peer-reviewed manuscripts. In 2013, he was named the world’s most cited researcher 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), and has received Distinguished Alumni awards from Miami University and the University of Oklahoma. VIDEO: Meet Richard Wilson, PhD
Elaine Mardis, PhD 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 was awarded the Luminary Award from the Precision Medicine World Conference.
Previously Drs. Wilson and Mardis led the McDonnell Genome Institute at Washington University, which was one of only three genome centers funded by the NIH following completion of the Human Genome Project. 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 whole genome sequencing (WGS) could identify the 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, which sequenced the genomes of more than 750 children with some of the most devastating cancers. VIDEO: Meet Elaine Mardis, PhD
Peter White, PhD Peter White, PhD is a principal investigator in The Institute for Genomic Medicine at Nationwide Children’s Hospital and an Associate Professor of Pediatrics at The Ohio State University. He is Senior Director of the Computational Genomics Group, leading a team of bioinformaticians, computer scientists and developers that support the translational bioinformatics, data management, clinical informatics and cloud computing needs of the Institute. His team is developing disruptive technologies to rapidly analyze and interpret genomic data produced by the Institute and collaborators. Dr. White has established multiple genomics initiatives as part of Nationwide Children’s strategic goal to develop a cutting edge genomic medicine program.
Dr. White’s research program at Nationwide Children’s Hospital focuses on developing high performance computing solutions for “big data”, utilizing disruptive technologies to rapidly analyze and interpret genomic data sets. Through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, autism spectrum disorders and rare genetic diseases. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White is a co-founder and Chief Scientific Advisor of GenomeNext LLC.
Dr. White received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 60 peer reviewed publications.
Catherine Cottrell, PhD Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio.
Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis. Presentations
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Senior Leadership Richard K. Wilson, PhD Executive Director Elaine R. Mardis, PhD Co-Executive Director Catherine E. Cottrell, PhD, FACMG Senior Director, Clinical Laboratory Peter White, PhD Senior Director, Computational Genomics Elena Chiappinelli, MSW, MHA Administrative Director Research Faculty
Christopher W. Bartlett, PhD Tracy A. Bedrosian, PhD Bimal P. Chaudhari, MD, PhD Jayajit Das, PhD David A. Greenberg, PhD Mark E. Hester, PhD Andrzej Kloczkowski, PhD Daniel C. Koboldt, MS Christian L. Lauber, PhD Paola Malerba, PhD Katie E. Miller, PhD Prajwal Rajappa, MD, MS William C. Ray, PhD Rolf W. Stottmann, PhD Alex H. Wagner, PhD Clinical Laboratory Directors Melanie Babcock, PhD Jesse M. Hunter, PhD Marco L. Leung, PhD, FACMG Mariam T. Mathew, PhD, FACMG Shalini C. Reshmi, PhD, FACMG Kathleen M. Schieffer, PhD, MLS (ASCP)
Managers
Adam C. French, MHA - Business and Financial Operations Jason P. Garee, PhD - Clinical Lab Operations Ben J. Kelly, MS - Translational Bioinformatics Ashley L. Kubatko, MS, PMP - Data Operations Grant E. Lammi - Computational Solutions & Cloud Infrastructure Aimee E. McKinney, CG, ASCP - Program Manager, Next Generation Sequencing Anthony R. Miller, PhD - Technology Development Operations Nissa L. Rodgers, MB(ASCP)CM - Program Manager, Molecular Genetics and Microarray Jessica L. Scholl, MS, MB(ASCP)cm – Quality Assurance and Accessioning Elizabeth A. Varga, MS, CGC - Clinical Genomics Research and Development Amy N. Wetzel, PhD - Genomic Services Operations Genetic Counselors
Samantha S. Choi, MS, LGC Maggie E. Humphrey, MS, LGC Theodora Jacobson Matthews, MS, LGC Danielle E. Mouhlas, MS, LGC Taylor A. Porter, MS, CGC Amy Siemon, MS, CGC Rachel Supinger, MS, CGC Elizabeth A. Varga, MS, CGC
Meet the Senior Leadership of the IGM 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, the Genome Reference Consortium, and the 1,000 Genomes Project.
Richard Wilson, PhD Dr. Wilson is an internationally recognized expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans (1990-98) – and contributed substantially to the sequencing and analysis of the human genome (1988-2003). He has published over 400 peer-reviewed manuscripts. In 2013, he was named the world’s most cited researcher 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), and has received Distinguished Alumni awards from Miami University and the University of Oklahoma. VIDEO: Meet Richard Wilson, PhD
Elaine Mardis, PhD 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 was awarded the Luminary Award from the Precision Medicine World Conference.
Previously Drs. Wilson and Mardis led the McDonnell Genome Institute at Washington University, which was one of only three genome centers funded by the NIH following completion of the Human Genome Project. 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 whole genome sequencing (WGS) could identify the 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, which sequenced the genomes of more than 750 children with some of the most devastating cancers. VIDEO: Meet Elaine Mardis, PhD
Peter White, PhD Peter White, PhD is a principal investigator in The Institute for Genomic Medicine at Nationwide Children’s Hospital and an Associate Professor of Pediatrics at The Ohio State University. He is Senior Director of the Computational Genomics Group, leading a team of bioinformaticians, computer scientists and developers that support the translational bioinformatics, data management, clinical informatics and cloud computing needs of the Institute. His team is developing disruptive technologies to rapidly analyze and interpret genomic data produced by the Institute and collaborators. Dr. White has established multiple genomics initiatives as part of Nationwide Children’s strategic goal to develop a cutting edge genomic medicine program.
Dr. White’s research program at Nationwide Children’s Hospital focuses on developing high performance computing solutions for “big data”, utilizing disruptive technologies to rapidly analyze and interpret genomic data sets. Through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, autism spectrum disorders and rare genetic diseases. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White is a co-founder and Chief Scientific Advisor of GenomeNext LLC.
Dr. White received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 60 peer reviewed publications.
Catherine Cottrell, PhD Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio.
Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis. Presentations
browser does not support iframe
Senior Leadership Richard K. Wilson, PhD Executive Director Elaine R. Mardis, PhD Co-Executive Director Catherine E. Cottrell, PhD, FACMG Senior Director, Clinical Laboratory Peter White, PhD Senior Director, Computational Genomics Elena Chiappinelli, MSW, MHA Administrative Director Research Faculty
Christopher W. Bartlett, PhD Tracy A. Bedrosian, PhD Bimal P. Chaudhari, MD, PhD Jayajit Das, PhD David A. Greenberg, PhD Mark E. Hester, PhD Andrzej Kloczkowski, PhD Daniel C. Koboldt, MS Christian L. Lauber, PhD Paola Malerba, PhD Katie E. Miller, PhD Prajwal Rajappa, MD, MS William C. Ray, PhD Rolf W. Stottmann, PhD Alex H. Wagner, PhD Clinical Laboratory Directors Melanie Babcock, PhD Jesse M. Hunter, PhD Marco L. Leung, PhD, FACMG Mariam T. Mathew, PhD, FACMG Shalini C. Reshmi, PhD, FACMG Kathleen M. Schieffer, PhD, MLS (ASCP)
Managers
Adam C. French, MHA - Business and Financial Operations Jason P. Garee, PhD - Clinical Lab Operations Ben J. Kelly, MS - Translational Bioinformatics Ashley L. Kubatko, MS, PMP - Data Operations Grant E. Lammi - Computational Solutions & Cloud Infrastructure Aimee E. McKinney, CG, ASCP - Program Manager, Next Generation Sequencing Anthony R. Miller, PhD - Technology Development Operations Nissa L. Rodgers, MB(ASCP)CM - Program Manager, Molecular Genetics and Microarray Jessica L. Scholl, MS, MB(ASCP)cm – Quality Assurance and Accessioning Elizabeth A. Varga, MS, CGC - Clinical Genomics Research and Development Amy N. Wetzel, PhD - Genomic Services Operations Genetic Counselors
Samantha S. Choi, MS, LGC Maggie E. Humphrey, MS, LGC Theodora Jacobson Matthews, MS, LGC Danielle E. Mouhlas, MS, LGC Taylor A. Porter, MS, CGC Amy Siemon, MS, CGC Rachel Supinger, MS, CGC Elizabeth A. Varga, MS, CGC
Meet the Senior Leadership of the IGM 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, the Genome Reference Consortium, and the 1,000 Genomes Project.
Richard Wilson, PhD Dr. Wilson is an internationally recognized expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans (1990-98) – and contributed substantially to the sequencing and analysis of the human genome (1988-2003). He has published over 400 peer-reviewed manuscripts. In 2013, he was named the world’s most cited researcher 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), and has received Distinguished Alumni awards from Miami University and the University of Oklahoma. VIDEO: Meet Richard Wilson, PhD
Elaine Mardis, PhD 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 was awarded the Luminary Award from the Precision Medicine World Conference.
Previously Drs. Wilson and Mardis led the McDonnell Genome Institute at Washington University, which was one of only three genome centers funded by the NIH following completion of the Human Genome Project. 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 whole genome sequencing (WGS) could identify the 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, which sequenced the genomes of more than 750 children with some of the most devastating cancers. VIDEO: Meet Elaine Mardis, PhD
Peter White, PhD Peter White, PhD is a principal investigator in The Institute for Genomic Medicine at Nationwide Children’s Hospital and an Associate Professor of Pediatrics at The Ohio State University. He is Senior Director of the Computational Genomics Group, leading a team of bioinformaticians, computer scientists and developers that support the translational bioinformatics, data management, clinical informatics and cloud computing needs of the Institute. His team is developing disruptive technologies to rapidly analyze and interpret genomic data produced by the Institute and collaborators. Dr. White has established multiple genomics initiatives as part of Nationwide Children’s strategic goal to develop a cutting edge genomic medicine program.
Dr. White’s research program at Nationwide Children’s Hospital focuses on developing high performance computing solutions for “big data”, utilizing disruptive technologies to rapidly analyze and interpret genomic data sets. Through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, autism spectrum disorders and rare genetic diseases. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White is a co-founder and Chief Scientific Advisor of GenomeNext LLC.
Dr. White received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 60 peer reviewed publications.
Catherine Cottrell, PhD Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio.
Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis. Presentations
browser does not support iframe
Senior Leadership Richard K. Wilson, PhD Executive Director Elaine R. Mardis, PhD Co-Executive Director Catherine E. Cottrell, PhD, FACMG Senior Director, Clinical Laboratory Peter White, PhD Senior Director, Computational Genomics Elena Chiappinelli, MSW, MHA Administrative Director Research Faculty
Christopher W. Bartlett, PhD Tracy A. Bedrosian, PhD Bimal P. Chaudhari, MD, PhD Jayajit Das, PhD David A. Greenberg, PhD Mark E. Hester, PhD Andrzej Kloczkowski, PhD Daniel C. Koboldt, MS Christian L. Lauber, PhD Paola Malerba, PhD Katie E. Miller, PhD Prajwal Rajappa, MD, MS William C. Ray, PhD Rolf W. Stottmann, PhD Alex H. Wagner, PhD Clinical Laboratory Directors Melanie Babcock, PhD Jesse M. Hunter, PhD Marco L. Leung, PhD, FACMG Mariam T. Mathew, PhD, FACMG Shalini C. Reshmi, PhD, FACMG Kathleen M. Schieffer, PhD, MLS (ASCP)
Managers
Adam C. French, MHA - Business and Financial Operations Jason P. Garee, PhD - Clinical Lab Operations Ben J. Kelly, MS - Translational Bioinformatics Ashley L. Kubatko, MS, PMP - Data Operations Grant E. Lammi - Computational Solutions & Cloud Infrastructure Aimee E. McKinney, CG, ASCP - Program Manager, Next Generation Sequencing Anthony R. Miller, PhD - Technology Development Operations Nissa L. Rodgers, MB(ASCP)CM - Program Manager, Molecular Genetics and Microarray Jessica L. Scholl, MS, MB(ASCP)cm – Quality Assurance and Accessioning Elizabeth A. Varga, MS, CGC - Clinical Genomics Research and Development Amy N. Wetzel, PhD - Genomic Services Operations Genetic Counselors
Samantha S. Choi, MS, LGC Maggie E. Humphrey, MS, LGC Theodora Jacobson Matthews, MS, LGC Danielle E. Mouhlas, MS, LGC Taylor A. Porter, MS, CGC Amy Siemon, MS, CGC Rachel Supinger, MS, CGC Elizabeth A. Varga, MS, CGC
Senior Leadership
Richard K. Wilson, PhD Executive Director
Elaine R. Mardis, PhD Co-Executive Director
Catherine E. Cottrell, PhD, FACMG Senior Director, Clinical Laboratory
Peter White, PhD Senior Director, Computational Genomics
Elena Chiappinelli, MSW, MHA Administrative Director
Research Faculty
Christopher W. Bartlett, PhD Tracy A. Bedrosian, PhD Bimal P. Chaudhari, MD, PhD Jayajit Das, PhD David A. Greenberg, PhD Mark E. Hester, PhD Andrzej Kloczkowski, PhD Daniel C. Koboldt, MS Christian L. Lauber, PhD Paola Malerba, PhD Katie E. Miller, PhD Prajwal Rajappa, MD, MS William C. Ray, PhD Rolf W. Stottmann, PhD Alex H. Wagner, PhD
Clinical Laboratory Directors
Melanie Babcock, PhD Jesse M. Hunter, PhD Marco L. Leung, PhD, FACMG Mariam T. Mathew, PhD, FACMG Shalini C. Reshmi, PhD, FACMG Kathleen M. Schieffer, PhD, MLS (ASCP)
Managers
Adam C. French, MHA - Business and Financial Operations Jason P. Garee, PhD - Clinical Lab Operations Ben J. Kelly, MS - Translational Bioinformatics Ashley L. Kubatko, MS, PMP - Data Operations Grant E. Lammi - Computational Solutions & Cloud Infrastructure Aimee E. McKinney, CG, ASCP - Program Manager, Next Generation Sequencing Anthony R. Miller, PhD - Technology Development Operations Nissa L. Rodgers, MB(ASCP)CM - Program Manager, Molecular Genetics and Microarray Jessica L. Scholl, MS, MB(ASCP)cm – Quality Assurance and Accessioning Elizabeth A. Varga, MS, CGC - Clinical Genomics Research and Development Amy N. Wetzel, PhD - Genomic Services Operations
Genetic Counselors
Samantha S. Choi, MS, LGC Maggie E. Humphrey, MS, LGC Theodora Jacobson Matthews, MS, LGC Danielle E. Mouhlas, MS, LGC Taylor A. Porter, MS, CGC Amy Siemon, MS, CGC Rachel Supinger, MS, CGC Elizabeth A. Varga, MS, CGC
Meet the Senior Leadership of the IGM
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, the Genome Reference Consortium, and the 1,000 Genomes Project.
Richard Wilson, PhD Dr. Wilson is an internationally recognized expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans (1990-98) – and contributed substantially to the sequencing and analysis of the human genome (1988-2003). He has published over 400 peer-reviewed manuscripts. In 2013, he was named the world’s most cited researcher 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), and has received Distinguished Alumni awards from Miami University and the University of Oklahoma. VIDEO: Meet Richard Wilson, PhD
Elaine Mardis, PhD 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 was awarded the Luminary Award from the Precision Medicine World Conference.
Previously Drs. Wilson and Mardis led the McDonnell Genome Institute at Washington University, which was one of only three genome centers funded by the NIH following completion of the Human Genome Project. 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 whole genome sequencing (WGS) could identify the 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.
Richard Wilson, PhD Dr. Wilson is an internationally recognized expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans (1990-98) – and contributed substantially to the sequencing and analysis of the human genome (1988-2003). He has published over 400 peer-reviewed manuscripts. In 2013, he was named the world’s most cited researcher 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), and has received Distinguished Alumni awards from Miami University and the University of Oklahoma. VIDEO: Meet Richard Wilson, PhD
Richard Wilson, PhD Dr. Wilson is an internationally recognized expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans (1990-98) – and contributed substantially to the sequencing and analysis of the human genome (1988-2003). He has published over 400 peer-reviewed manuscripts. In 2013, he was named the world’s most cited researcher 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), and has received Distinguished Alumni awards from Miami University and the University of Oklahoma.
VIDEO: Meet Richard Wilson, PhD
Elaine Mardis, PhD 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 was awarded the Luminary Award from the Precision Medicine World Conference.
Elaine Mardis, PhD 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 was awarded the Luminary Award from the Precision Medicine World Conference.
Their foundational contributions to discovery research in pediatric genomics have been significant. Drs. Wilson and Mardis co-led the Pediatric Cancer Genome Project, which sequenced the genomes of more than 750 children with some of the most devastating cancers.
VIDEO: Meet Elaine Mardis, PhD
Peter White, PhD Peter White, PhD is a principal investigator in The Institute for Genomic Medicine at Nationwide Children’s Hospital and an Associate Professor of Pediatrics at The Ohio State University. He is Senior Director of the Computational Genomics Group, leading a team of bioinformaticians, computer scientists and developers that support the translational bioinformatics, data management, clinical informatics and cloud computing needs of the Institute. His team is developing disruptive technologies to rapidly analyze and interpret genomic data produced by the Institute and collaborators. Dr. White has established multiple genomics initiatives as part of Nationwide Children’s strategic goal to develop a cutting edge genomic medicine program.
Dr. White’s research program at Nationwide Children’s Hospital focuses on developing high performance computing solutions for “big data”, utilizing disruptive technologies to rapidly analyze and interpret genomic data sets. Through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, autism spectrum disorders and rare genetic diseases. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White is a co-founder and Chief Scientific Advisor of GenomeNext LLC.
Dr. White received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 60 peer reviewed publications.
Peter White, PhD Peter White, PhD is a principal investigator in The Institute for Genomic Medicine at Nationwide Children’s Hospital and an Associate Professor of Pediatrics at The Ohio State University. He is Senior Director of the Computational Genomics Group, leading a team of bioinformaticians, computer scientists and developers that support the translational bioinformatics, data management, clinical informatics and cloud computing needs of the Institute. His team is developing disruptive technologies to rapidly analyze and interpret genomic data produced by the Institute and collaborators. Dr. White has established multiple genomics initiatives as part of Nationwide Children’s strategic goal to develop a cutting edge genomic medicine program.
Peter White, PhD Peter White, PhD is a principal investigator in The Institute for Genomic Medicine at Nationwide Children’s Hospital and an Associate Professor of Pediatrics at The Ohio State University. He is Senior Director of the Computational Genomics Group, leading a team of bioinformaticians, computer scientists and developers that support the translational bioinformatics, data management, clinical informatics and cloud computing needs of the Institute. His team is developing disruptive technologies to rapidly analyze and interpret genomic data produced by the Institute and collaborators. Dr. White has established multiple genomics initiatives as part of Nationwide Children’s strategic goal to develop a cutting edge genomic medicine program.
Catherine Cottrell, PhD Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio.
Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.
Catherine Cottrell, PhD Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio.
Catherine Cottrell, PhD Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio.
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