2014 Archived Content
2014 Speaker Biographies
Sarah Aerni, Ph.D., Senior Data Scientist, Pivotal
Sarah Aerni is a Senior Data Scientist at Pivotal. She joined Pivotal from Stanford University where she performed interdisciplinary research at the interface of biomedicine and computer science. She focused applying machine learning methods to address a broad range of biomedical questions. She holds a B.S. In Biology with a specialization in Bioinformatics and a minor in French Literature from UCSD, and an M.S. and Ph.D. in Biomedical Informatics from Stanford University. Sarah also cofounded a company offering expert services in informatics for both academic and industry settings. Beyond her interests in biomedical informatics, she is passionate about education and fostering interdisciplinary collaboration.
Mohammand Akbari, M.D., Ph.D., Assistant Professor , Dalla Lana School of Public Health, University of Toronto, Scientist, Women's College Research Institute
Dr. Mohammad R. Akbari is a scientist at Women’s College Research Institute who focuses on the study of genetic susceptibility to breast, ovarian, esophageal, pancreatic and prostate cancers. Dr. Akbari focuses on identifying new genes responsible for different hereditary cancers, and on defining both the role and impact that known cancer genes have on risk. Ultimately, Dr. Akbari is working to develop evidence-based cancer treatments that are personalized to patients who carry a mutation.
Dr. Akbari received his medical degree from Tehran University of Medical Sciences, Iran in 2001 and in 2004 he completed a research fellowship in gastroenterology in Digestive Disease Research Institute, Tehran University of Medical Sciences. In 2010, he obtained his PhD in molecular human genetics from the Institute of Medical Science, Faculty of Medicine at the University of Toronto.
Joshua N. Burton, Research
Scientist, Jay Shendure Laboratory, Genome Sciences, University of Washington
Burton is a Research Scientist in the lab of Jay Shendure in the Department of
Genome Sciences at the University of Washington. He has previously worked as a
computational biologist at the Broad Institute. He attended Princeton
University, where he majored in physics.
Atul Butte, M.D., Ph.D., Division Chief and
Associate Professor, Stanford University School of Medicine; Director, Center
for Pediatric Bioinformatics, Lucile Packard Children’s Hospital; Co-Founder,
Personalis and Numedii
Atul Butte, M.D., Ph.D., is Chief of the Division of Systems
Medicine and Associate Professor of Pediatrics, Medicine, and by courtesy,
Computer Science, at Stanford University and Lucile Packard Children's
Hospital. Dr. Butte trained in Computer Science at Brown University, worked as
a software engineer at Apple and Microsoft, received his M.D. at Brown
University, trained in Pediatrics and Pediatric Endocrinology at Children’s
Hospital Boston, then received his Ph.D. in Health Sciences and Technology from
Harvard Medical School and MIT. Dr. Butte’s lab at Stanford builds and
applies tools that convert more than 300 billion points of molecular, clinical
and epidemiological data—measured by researchers and clinicians over the past
decade—into diagnostics, therapeutics and new insights into disease. Dr.
Butte has authored more than 100 publications and delivered more than 120
invited presentations in personalized and systems medicine, biomedical
informatics and molecular diabetes.
Eithon Cadag, Ph.D., Principal Data Scientist, Ayasdi
Eithon Cadag is a Principal Data Scientist & Manager at Ayasdi, focusing on computation and analysis in the pharmaceutical and healthcare domain. Before joining Ayasdi, Eithon worked for variousUS government agencies as a statistician and researcher in the biological and chemical defense space. Eithon received a doctorate from the University of Washington, where his dissertation was on data integration and statistical techniquesfor pathogen characterization.
Michael Dahlweid, M.D., Ph.D., Vice President, GM Portfolio and Product Management, GE Healthcare and Professor for Medical Informatics, Applied Ernst-Abbé University Jena
Michael Dahlweid is a General Manager, Product Management for GE Healthcare IT. GE Healthcare IT supports healthcare organizations by delivering innovative and customer-focused information technology solutions that improve efficiency and enhance patient care. In this role, Michael partners with teams across our business, including Product and Solutions Management, Marketing, Technology and Business Development, to translate strategic objectives into comprehensive product and development roadmaps. As the leader of GE Healthcare IT’s Product Management function, he is responsible for driving strong product management competencies and process excellence across the function, and ensuring a successful and innovative solutions and portfolio strategy across the HCIT business. With a background as a registered nurse, a practicing physician, chief medical officer, strategy leader, CIO, teaching professor and product manager in the healthcare and healthcare IT arenas, Michael brings very broad and deep healthcare and technology domain expertise to the GE Healthcare IT leadership team. Before joining GE, Michael was the Global Chief Medical Officer and Head of Solution Strategy for CSC Healthcare Vertical. Prior to that, he held several roles with iSOFT Health including Chief Medical Officer, Head of Product and Solution strategy and Global Product Director. Michael has also held roles with AGFA including global Chief Medical Officer and Head of its Enterprise IT business unit. Michael studied medicine at the Universities of Magdeburg and Medical College Potsdam, and medical informatics at the Medical College of Cologne. Michael is board certified in Medical Informatics and Emergency Medicine, holding an M.D. and a Ph.D. degree, and finished his business education at University of Oxford SAID business school with a concentration in leadership and strategy. In addition to serving several national governments as an adviser for ehealth, he teaches Medical Informatics at the University of Oxford, UK, and the University of Jena, Germany. Michael practices in trauma surgery and emergency medicine and is fellow of the German Association of Trauma-Surgery, the German Association of Medical Informatics and member of the German chamber of Physicians.
Karen Eilbeck, Ph.D., Associate
Professor, Biomedical Informatics, University of Utah
Eilbeck earned both her MSc degree in Bioinformatics and her Ph.D. in
Biochemistry at the University of Manchester in England. She did postdoctoral
training in the Department of Computer Science and also at the University of
Manchester. She is currently an Associate Professor in the University of Utah’s
Biomedical Informatics Department. Her expertise is in understanding and
accessing biological data in order to understand diseases better. Her research
involves the annotation of genome sequence. Genomic annotation is the process
of adding further knowledge to the raw sequence data, such as the location of
genes, the functions of the gene products and the positions of known mutations.
Dr. Eilbeck maintains the Sequence Ontology, an open-source project for
organizing and naming the parts of genomic sequence and the relationships
between these parts. This project has unified the vocabulary used to annotate
genomes, enabling computational exploration of data from many sources. It forms
the terminology used by many genome software programs and model organism
communities. She is actively involved in the annotation of genomic variants
associated with disease and part of the NIH’s ClinGen Resource. She is also a
member of the CDC’s working group to standardize variant files for clinical
Erwin, Ph.D., Research Scientist, Fred H. Gage Laboratory, Genetics, The Salk
Institute for Biological Studies
Erwin is a geneticist and stem cell biologist investigating the role of somatic
mosaicism in neural development and disease. In the laboratory of Rusty Gage at
the Salk Institute, a major focus of her work involves developing single-cell
techniques to identify novel mechanisms contributing to neurological disorders.
Galas, Ph.D., Principal Scientist, Pacific Northwest Diabetes Research
is Principal Scientist at the Pacific Northwest Diabetes Research Institute.
Most recently he was Professor and Senior Vice President at the Institute for
Systems Biology, Chancellor and Norris Professor of Applied Life Science at the
Keck Graduate Institute, and Professor and Chairman of Molecular Biology at the
University of Southern California. He has been involved in translating science
into diagnostics and therapeutics in several biotechnology companies. His
research interests include human genetics of complex diseases and the
development and application of new technologies and computational methods. He
has served on many boards and committees, including the NRC Board on Life
Science, and is a lifetime Associate of the National Academy of Sciences.
Malachi Griffith, Ph.D., Research Faculty, Genetics, The Genome Institute, Washington University School of Medicine
Dr. Malachi Griffith is a Research Faculty member at Washington University Medical School and Genome Fellow at The Genome Institute. Dr. Griffith’s research is focused on the development of personalized medicine strategies for cancer using genomic technologies. He develops and uses bioinformatics and statistical methods for the analysis of high-throughput sequence data and identification of biomarkers for diagnostic, prognostic and drug response prediction. Before coming to Washington University, Dr. Griffith completed a bioinformatics postdoctoral fellowship at the BC Cancer Agency Genome Sciences Center in Vancouver, British Columbia. He received his Ph.D. (Medical Genetics, 2009) from the University of British Columbia and B.S. (Biochemistry and Biology with Honors, 2002) from the University of Winnipeg.
Jill Hagenkord, M.D., CMO, 23andMe, Inc.
Dr. Jill Hagenkord serves as chief medical officer for 23andMe, where she is responsible for all medical affairs activities, serving as the company liaison to physician, medical, genetics and research industry groups. Hagenkord also oversees laboratory, shipping and fulfillment operations for the company. Previously, Hagenkord served as senior vice president of medical strategy for InVitae Corporation, a genetics information company, where her role included serving as medical director, contributing to corporate strategy, acting as commercial liaison and leading the company’s physician education programs. Hagenkord is a board-certified molecular genetic pathologist. Prior to joining InVitae, Hagenkord served as chief medical officer and senior vice president at Complete Genomics, Inc. Her other prior experiences include founder and chief medical officer for iKaryos Diagnostics, associate professor of pathology at Creighton University School of Medicine, director of molecular pathology and clinical genomics at Creighton Medical Laboratories and pathologist at Deltagen, Inc. Hagenkord received her M.D. from Stanford University School of Medicine in 1999, did her residency training in pathology at the University of California at San Francisco and the University of Iowa, and completed fellowships in pathology/oncology informatics and molecular genetic pathology at the University of Pittsburgh Medical Center.
Jacqueline Huang, Senior Associate, Reimbursement Policy, Quorum Consulting, Inc.
Ms. Huang skillfully leads a variety of reimbursement policy initiatives in the medical device, pharmaceutical and diagnostics areas. By staying abreast of reimbursement policy updates relating to healthcare reform, coding revisions and payment policy changes, Ms. Huang establishes reimbursement strategies to support successful commercialization of new products entering today’s healthcare market. She has developed payer dossiers, evidence gap-analyses, payer interviews and reimbursement landscape analyses for a multitude of technologies. Her main area of expertise is in molecular diagnostic reimbursement. Ms. Huang created Quorum’s first publicized newsletter, the Diagnostics Reimbursement Quarterly, which she manages as editor-in-chief. In the dynamic and evolving molecular diagnostics space, she leads payment and rate-setting initiatives through stakeholder education, payer advocacy efforts and diligent monitoring of the latest events. She has also successfully developed and launched diagnostics reimbursement programs to support market access of emerging technologies. Ms. Huang has previous experience working in a biochemistry laboratory and at a medical device testing research facility. She received her Bachelor of Science degree in Chemical Biology from the University of California, Berkeley.
Gail P. Jarvik, M.D., Ph.D.,
Head, Division of Medical Genetics, Arno G. Motulsky Endowed Chair in Medicine
and Professor, Medicine and Genome Sciences, University of Washington Medical
Gail Jarvik, M.D., Ph.D., received her Ph.D. at the University of Michigan and
her M.D. at the University of Iowa in the Medical Scientist Training program.
She completed residency in internal medicine at the University of Pennsylvania
and fellowship in medical genetics at the University of Washington. Dr.
Jarvik holds the Arno G. Motulsky Endowed Chair in Medicine and heads the
Division of Medical Genetics and the Northwest Institute of Genetic Medicine.
She cares for adult medical genetics patients. Her research focuses on the
genetic basis of common diseases and the implementation of genomic medicine.
Additionally, she has active research in biomedical ethics, including returning
genomic research results to subjects. She is a PI in the Electronic Medical Records and Genomics (eMERGE) and
clinical sequencing exploratory research (CSER) consortia.
Alexander Kaplun, Ph.D., Field Applications Scientist, BIOBASE
Alexander Kaplun, PhD is a Field Application Scientist at BIOBASE. Dr. Kaplun’s expertise is in systematic computational analysis of high-throughput data including genomics, differential expression and gene regulation mechanisms. Dr. Kaplun received his MSc degree in Biotechnology and his PhD in Biochemistry and Molecular Biology from Ben Gurion University. He completed his postdoctoral work at Karmanos Cancer Institute, Wayne State University. He is an author and co-author of numerous peer-reviewed publications.
Kasowski, Ph.D., Research Scientist, Mike Snyder Laboratory, Genetics, Stanford
Kasowski is a postdoc in Dr. Mike Snyder’s Lab at Stanford University in the
Department of Genetics and a Vera Moulton Wall Center Young Investigator. She
joined the Snyder Lab as an HHMI Medical Fellow during her medical studies at
Yale University. She received her Ph.D. in Molecular, Cellular and
Developmental Biology from Yale in 2011. Her thesis work in the Snyder Lab was
on human variation in transcription factor binding. Maya has an M.S. in Medical
Physics and a B.S. in Biology from the University of Pennsylvania.
J. Keats, Ph.D., Assistant Professor, Integrated Cancer Genomics Division,
Translational Genomics Research Institute
Keats is an Assistant Professor at the Translational Genomics Research
Institute (TGen) in Phoenix, Arizona. He has authored over 30 papers and
received 15 awards in recognition of his work. The primary disease focus of his
lab is multiple myeloma with secondary interests in other hematological
malignancies and immunodeficiency syndromes. His lab uses novel methods to
interrogate the genomic features of these diseases, with the goal of
identifying genetic events that drive the development, progression, or mediate
therapeutic resistance. Dr. Keats completed his Bachelor’s of Science degree
with a major in genetics at the University of Alberta in 1998. He received his
Ph.D. in Oncology from the University of Alberta in 2005 for his studies on the
clinical and biological consequences of t(4;14)(p16;q32) in multiple myeloma.
Subsequently, he moved to the Mayo Clinic for his postdoctoral work on novel
genetic events underlying the pathogenesis of multiple myeloma. He is highly
involved in the ongoing Multiple Myeloma Genomics Initiative (MMGI) that aims
to characterize the genetic events underlying this disease and served as the
principal investigator in the myeloma cell line characterization project, which
has characterized 69 different myeloma cell lines using CGH, exome sequencing
and RNA sequencing. He is a co-investigator on the Multiple Myeloma
Research Foundation CoMMpass study that aims to genetically characterize 1000
newly diagnosed patients and subsequent relapses occurring in the 5-8 year
observation arm of the trial.
Nickolay A. Khazanov, Ph.D., Bioinformatics Scientist, Life Sciences Solutions, Thermo Fisher Scientific
Nickolay Khazanov is a Bioinformatics Scientist at Life Sciences Solutions Group, Thermo Fisher Scientific in Ann Arbor, Michigan. As part of Compendia Bioscience, Dr. Khazanov worked on the development of the Oncomine(R) NGS Power Tools, which integrate various sources of cancer genomics data to enable pharmaceutical and research scientists to characterize drug targets or probable relevant clinical population profiles in large sets of clinical and model systems tumor samples. Dr. Khazanov is currently part of the Compendia BioscienceTM Bioinformatics Services team, supporting translational scientists in analyses of the Oncomine(R) Knowledgebase to identify novel drug targets, characterize drug-response biomarkers and other customized bioinformatics projects. Dr. Khazanov received his Ph.D. from the Bioinformatics graduate program at University of Michigan, where he worked on structural bioinformatics methods for computational drug design.
Shannon Kieran, MS, LCGC, MBA, Clinical Programs Senior Manager, Life Sciences Solutions, Thermo Fisher Scientific
Shannon Kieran is the senior program manager for the Individualized Medical Pathways for Advanced Care and Treatment (IMPACT) program at Life Technologies. She earned Master’s degrees in Genetic Counseling and Business Administration from the University of Arizona. As a board-certified and licensed genetic counselor, Shannon’s career has focused on integrating advanced genomic technologies and cutting-edge molecular diagnostics into personalized medicine strategies. Her position in the field of personalized genomics as an innovative and established leader with expertise in oncology and pharmacogenomics has enabled her career to span both clinical and industry roles. Her efforts nurture the connection between business and clinical genetics, providing guidance on clinical product development, and supporting the implementation of advanced genomic tools in practice. Shannon’s niche expertise has allowed her the opportunity to contribute to numerous lectures and media activities. As a long-standing member of the National Society of Genetic Counselors, Shannon has held positions as Chair of the Personalized Medicine Special Interest Group and Co-Chair of the Online Education committee, in addition to being the recipient and Director of the Audrey Heimler Special Project Award, developing point-of-care counseling aids to assist in educating patients about genomic technologies.
Elissa Levin, MS, CGC, Head, Genomics
and Integrative Health Innovations; Assistant Professor, Genetics and Genomic
Sciences, Icahn Institute for Genomics and Multiscale Biology, Mount Sinai
School of Medicine
As a board-certified Genetic Counselor, she is nationally known for
developing novel approaches to responsibly realize the promise of personalized
medicine as genetic and genomic technologies enter clinical practice. Her
expertise has led her to participate in a diverse range of nationwide lectures,
workshops and media appearances. Ms. Levin is a nationally recognized leader in
developing innovative, responsible approaches to the delivery of genomic
medicine. She is currently the Head of Genomics and Integrative Health
Innovations at Mount Sinai Hospital in Manhattan, striving to develop programs
to enable the integration of complex genomic information into clinical
practice. Most recently, she developed and led the novel Clinical Support
Services department at Life Technologies, providing clinical genomics expertise
to a broad range of stakeholders. Previously at Navigenics, one of the first
broad-based genomic testing services for the general population, Ms. Levin
was Vice President of Genomic Services, where she managed the company’s
clinical services, science and operations departments and was a key leader of
the company’s strategic initiatives. Before joining Navigenics, she served as
the Director of Clinical Services at DNA Direct, where she helped pioneer the
first direct-to-consumer genetic counseling service, providing testing,
education and counseling services for specific medical conditions. Ms. Levin
began her career focused on the genetics of congenital heart disease, providing
genetic counseling and education to families and staff in the cardiology
division of the Children’s Hospital of Philadelphia. At the University of
California, San Francisco Medical Center, she counseled clients of all ages
about general and metabolic genetics and coordinated clinical trials for enzyme
Lin, M.D., Ph.D., President, Rare Genomics Institute
Jimmy Lin, M.D., Ph.D., MHS,
is a 2012 TED Fellow and Founder & President of Rare Genomics Institute,
the world’s first platform to enable any community to leverage cutting-edge
biotechnology to advance understanding of any rare disease. Partnering with 18
of the top medical institutions, such as Harvard, Yale, Johns Hopkins, and
Stanford, RGI helps custom design personalized research projects for diseases
so rare that no organization exists to help. Dr. Lin is also a medical school
faculty member at the Washington University in St. Louis and led the computational
analysis of the first-ever exome sequencing studies for any human disease at
Johns Hopkins. He has numerous publications in Science, Nature, Cell, Nature Genetics and Nature
Biotechnology, and has been featured in Forbes,
Bloomberg, Wall Street Journal, Washington
Post, and the Huffington Post.
Fred Lorey, Ph.D., Representative, North American Council, International Society for Neonatal Screening; Member, U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC); former Acting Director, California Genetic Disease Screening Program, California Department of Public Health
Dr. Lorey performed his doctoral research at the University of California, Davis and was previously the Director of the California Genetic Disease Screening Program (CDPH) until August of 2013. He is currently the North American Council Representative for the International Society of Neonatal Screening (ISNS), a member of the HHS Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, the nomination and prioritization and laboratory subcommittees and also a member of the Standing Committee for the Newborn Screening Translational Network (run by ACMG). He is active in the Society of Inherited Metabolic Diseases (SIMD), Association of Public Health Laboratories and consults with private industry in helping to improve and expand newborn screening in India and Mexico.
Magnus, Ph.D., Director, Stanford Center for Biomedical Ethics; Thomas A.
Raffin Professor, Medicine and Biomedical Ethics; Professor, Pediatrics,
Stanford University School of Medicine
Magnus, Ph.D., is Thomas A. Raffin Professor of Medicine and Biomedical Ethics
and Professor of Pediatrics at Stanford University, where he directs the
Stanford Center for Biomedical Ethics. Dr. Magnus received his Ph.D. in philosophy
from Stanford University and currently co-chairs Stanford Hospital and Clinic’s
Ethics Committee, which provides consultation to doctors, patients and families
on issues concerning surrogate decision making at the end of life and organ
donation. He is a member of Stanford’s End of Life Work Group, Palliative Care
Board and the newly formed Innovative Care Committee. In addition, Dr. Magnus
has spearheaded ethics training programs offered to medical students and
clinicians. Dr. Magnus serves as the Editor-in-Chief of the American Journal of Bioethics and is widely published on a range
of topics, including healthcare reform, research ethics end-of-life care and
genetic technology. His published journals include Science, Hastings Center Report, Cambridge Quarterly of Healthcare
Ethics and the Journal of Law,
Medicine and Ethics. Along with his scholarly work, he has written a number
of editorial pieces in prominent newspapers and has been quoted in TIME magazine, Newsweek, the Wall Street
Journal and New York Times. He
has also appeared on many television shows, including Good Morning America, CBS
This Morning, FOX News Sunday and
ABC World News. Dr. Magnus also
served as President of the American Bioethics Program Directors, representing
the leadership of 60 academic bioethics programs across North America. Led by
Dr. Magnus, the ABPD sent a clear message about myths that challenge the ethics
of reform proposals at this critical juncture in the national debate about
healthcare reform in the United States.
Marsolo, Ph.D., Associate Professor, Division of Biomedical Informatics,
Cincinnati Children’s Hospital Medical Center and Associate Professor,
Pediatrics, University of Cincinnati College of Medicine
Dr. Keith Marsolo is an
Associate Professor in the Division of Biomedical Informatics at the Cincinnati
Children’s Hospital Medical Center (CCHMC) and the Department of Pediatrics at
the University of Cincinnati College of Medicine. He led the implementation of
Cincinnati Children’s research data warehouse which utilizes a custom version
of the open-source i2b2 framework. The software allows users to perform
de-identified cohort queries, request datasets or biosamples for research
purposes, and in select cases, perform de-identified chart review. Dr. Marsolo
and his team have developed several other standalone applications
that interface with the EHR, including a tool that supports CCHMC’s
research biobank. At the time of registration, patients
are asked whether they would allow their residual clinical samples to
be kept for research purposes. The tool allows biobank personnel
to query a sample and then determine, based on the patient’s consent
decision and several other factors, whether it can be
kept for research. Dr. Marsolo is also heavily involved in the
creation of data collection and reporting systems to support multicenter
quality improvement and research networks, as well as query tools for a number
of other federated data sharing networks. Most recently, he led the design
and development of an EHR-linked “enhanced” registry for ImproveCareNow, a
58-center collaborative focused on improving care and outcomes for children with
Inflammatory Bowel Disease. The registry allows users to collect data directly
in the EHR, where it can then be uploaded to the registry and used in a number
of different automated reports. Dr. Marsolo earned a Bachelor’s in Computer
Science and Engineering, a Master’s in Biomedical Engineering and in
Computer and Information Science, and a Ph.D. in Computer and Information
Science from The Ohio State University.
Heather McLaughlin, Ph.D., MB(ASCP)CM, Clinical Molecular Genetics Fellow, Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Dr. McLaughlin received a B.S. in Diagnostic Molecular Science from Michigan State University, a Ph.D. in Human Genetics from the University of Michigan and has just completed a Clinical Molecular Genetics Fellowship at the Harvard Medical School Genetics Training Program. She has recently accepted a position at Partners HealthCare Personalized Medicine’s Laboratory for Molecular Medicine, where she will serve as an Assistant Laboratory Director. Dr. McLaughlin’s clinical interests focus on molecular diagnostic testing for inherited cardiomyopathies and pulmonary disorders and the implementation of exome and genome sequencing into the clinical laboratory. She is also interested in exploring incidental findings in individuals undergoing genomic sequencing and developing reporting formats that will aid in the integration of genomic sequencing into clinical medicine.
Mike M. Moradian, Ph.D., Director of Operations and Molecular Genetics Scientist, Kaiser Permanente Southern California Regional Genetics Laboratory
Mike Moradian received his BS degree in Microbiology and Medical Technology with honors from CSULA, his MS degree in Bioinformatics and his Ph.D. in Molecular Genetics from UCLA. Dr. Moradian is a board-certified Clinical Laboratory Bioanalyst with the State of California, a Molecular Genetics Scientist from American Board of Bioanalysis, a High Complexity Laboratory Director and Clinical Consultant from ABB. He has worked as research scientist and laboratory director for over a decade, developing genetics assays and setting up laboratories, with extensive training in LEAN operations. He is currently the Director of Operations at Kaiser Permanente Southern California Regional Medical Genetics Laboratories. Dr. Moradian also serves as a senior scientist and consultant for Morava, Inc. scientific and technology services, leading research on auto-inflammatory disorders, i.e., Familial Mediterranean Fever (FMF). His latest works on FMF were published in Nature’s Journal of Human Genetics and recently in Genetics in Medicine.
Lincoln D. Nadauld, M.D., Ph.D., Director, Cancer
Genomics, Intermountain Healthcare
Dr. Nadauld completed his M.D./Ph.D. training at the
University of Utah followed by medical and postdoctoral fellowships at Stanford
University. In addition to an extensive publication record, Dr. Nadauld
was previously awarded the prestigious Young Investigator Award by the American
Society of Clinical Oncology and a Career Development Award from the National
Cancer Institute. More recently, Dr. Nadauld was appointed Director of
Cancer Genomics at Intermountain Healthcare, an integrated healthcare system of
more than 20 hospitals and 150 clinics, where he is leading the clinical
implementation of genomic-based cancer medicine.
Julianne M. O’Daniel, MS, CGC,
Assistant Professor, Genetics, University of North Carolina at Chapel Hill
Julianne O’Daniel is an
assistant professor in the Department of Genetics at the University of North
Carolina. As a researcher and genetic counselor, Julianne’s career has centered
on the clinical impact of next-generation technologies and the individual
meaning(s) of genomic risk information. Her blended experiences span clinical
practice, social science and translational research and commercial laboratory
development. She recently joined the UNC Department of Genetics where she is
collaborating on several projects including the application of whole-exome
sequencing in clinical diagnosis, newborn screening and diagnosis and healthy
population screening. Building from her blended experiences, Julianne will
highlight salient issues in variant interpretation.
E Sasha Paegle, Senior Business Development Manager, Life Sciences, Isilon Storage Division, EMC²
In his current role as Sr. Business Development Manager at EMC Isilon, E. Sasha Paegle is responsible for EMC Isilon’s Life Science go-to-market planning, solution development, and partner engagements. Prior to EMC Isilon, Sasha has spent over 15 years in the Life Sciences industry as a product manager of life sciences software solutions at companies such as Microsoft Health Solutions Group, Rosetta Biosoftware (Merck & Co,) and DoubleTwist. He has also been responsible for building technology relationships with leading genomics companies such as Illumina, Affymetrix, Ingenuity Systems, Waters and Thermo-Fisher. Sasha has also worked at the Scripps Research Institute in the R&D Process Sciences Department at Genentech. Sasha holds a B.A. in Molecular Biology from UCSB, a M.S. in Biochemical Engineering from UCI, and a MBA from the University of Washington.
Peterson, M.D., MPH, Assistant Professor, Biomedical Informatics and Medicine,
Vanderbilt School of Medicine, Vanderbilt University
Peterson, M.D., MPH, is an Assistant Professor of the Department of Biomedical
Informatics and Medicine at Vanderbilt University Medical Center. He
received his M.D. from the Vanderbilt University School of Medicine in 1997 and
completed an Internal Medicine residency at Duke University Medical Center, a
fellowship in General Internal Medicine at Brigham and Women’s Hospital, and a
Master’s of Public Health degree at the Harvard School of Public Health. Since
joining the faculty at Vanderbilt, Dr. Peterson has developed programs in
personalized medicine to improve drug safety and efficacy and translate genomic
technologies to routine clinical care. He directs the evaluation a
large-scale pharmacogenomics quality improvement initiative – PREDICT
(Pharmacogenomic Resource for Enhanced Decisions In Care and Treatment). Dr.
Peterson’s work receives funding by the NHLBI, the Center for Disease Control,
the NIH Pharmacogenomics Research Network and NHGRI’s eMERGE program.
John Pfeifer, M.D., Ph.D., Vice Chair,
Clinical Affairs, Pathology; Professor, Pathology and Immunology; Professor,
Obstetrics and Gynecology, Washington University School of Medicine
is Vice Chair for Clinical Affairs in the Department of Pathology at Washington
University School of Medicine. He is board-certified in Anatomic Pathology
and also Molecular Genetic Pathology, and has been a practicing surgical
pathologist for over 20 years. As Vice Chairman for Clinical Affairs he is
responsible for managing the department’s high-volume, high-complexity Clinical
Pathology, Anatomic Pathology and Neuropathology Divisions. Over the last several years, Dr.
Pfeifer has helped lead the development of Genomics and Pathology Services at
Washington University in St. Louis (GPS@WUSTL), a joint venture between the
Department of Pathology and the Department of Genetics at Washington University
School of Medicine. GPS@WUSTL is a CLIA-licensed environment designed
around clinical next-generation sequencing (NGS) testing to support patient
care, clinical trials and translational research studies. Dr. Pfeifer
helps manage test design and validation (including gene panel-based versus
exome- or whole-genome-based sequencing), development of bioinformatics software,
faculty staffing models and reimbursement models required to support NGS for
clinical applications. He is also involved in the evaluation of different
platforms for clinical NGS. Dr. Pfeifer’s academic interests are primarily
focused on investigation of the role of molecular genetic testing in the
analysis of tissue specimens, specifically on the methods and clinical settings
in which molecular testing provides independent information that increases
diagnostic accuracy, can be used to guide therapy or provides more accurate
Jamie L. Platt, Ph.D., CGMBS, MB(ASCP), Vice President, Genomic Solutions, Molecular Pathology Laboratory Network, Inc.
Dr. Platt received her Ph.D. in Molecular & Cellular Biology from Oregon State University and completed postdoctoral training in population genetics at the University of California, Berkeley. She has extensive expertise in sequencing and molecular systematics, including population genetics. During her 12 years in clinical diagnostics, Dr. Platt has developed and validated numerous high-complexity sequencing assays in the clinical areas of Infectious Diseases, Oncology and Molecular Genetics and has introduced custom, industrial-grade automation to high-complexity sequencing assays. Dr. Platt has special interest in applying advanced sequencing technologies (NGS) to improve personalized healthcare.
John Quackenbush, Ph.D., Professor,
Dana-Farber Cancer Institute and Harvard School of Public Health; Co-Founder
and CEO, GenoSpace
John Quackenbush received his Ph.D. in 1990
in theoretical physics from UCLA working on string theory models. Following two
years as a postdoctoral fellow in physics, Dr. Quackenbush applied for and
received a Special Emphasis Research Career Award from the National Center for
Human Genome Research to work on the Human Genome Project. He spent two years
at the Salk Institute and two years at Stanford University working at the
interface of genomics and computational biology. In 1997 he joined the faculty
of The Institute for Genomic Research (TIGR) where his focus began to shift to
understanding what was encoded within the human genome. Since joining the
Faculties of the Dana-Farber Cancer Institute and the Harvard School of Public
Health in 2005, his work has focused on the use of genomic data to reconstruct
the networks of genes that drive the development of diseases such as cancer and
Erica Ramos, MS, CGC, Clinical Genomics Specialist, Certified Genetic Counselor, New and Emerging Opportunities, Illumina, Inc.
Erica Ramos received her Master’s degree in genetic counseling from the University of California, Irvine in 2001. After graduation, she worked as a prenatal and preconceptional genetic counselor for Genzyme Genetics in multiple Southern California clinics. In 2005, she moved to Las Vegas to help start Amigenics, a unique adult genetics specialty clinic. While at Amigenics, she helped to create an innovative breast cancer risk assessment program and was the first genetic counselor to focus on adult and cancer genetics in Las Vegas. In July 2012, Ms. Ramos joined Illumina as a Clinical Genomics Specialist, where she provides support and guidance to the Illumina Clinical Services Laboratory and its clients to advance the use of whole-genome sequencing in clinical care. Ms. Ramos is also active in the National Society of Genetic Counselors and was recently elected to the 2014 NSGC Board of Directors as a Director at Large. Additionally, she has served on the Education Committee, Cancer SIG Quality Initiative Task Force and Genetic Counseling Advanced Degree Task Force (GCADTF).
Mitch Raponi, Ph.D., Senior
Director and Head, Molecular Diagnostics, Clovis Oncology
Mitch Raponi, Ph.D., is Senior Director and Head of
Molecular Diagnostics at Clovis Oncology. Dr. Raponi is responsible for
designing and executing companion diagnostic strategies to support the development
and commercialization of effective cancer therapeutics. Clovis Oncology
currently has three compounds advancing in the clinic, each of which has a
companion diagnostic also under development. These include CO-1686 (an EGFR
mutant selective inhibitor) for the treatment of non-small cell lung cancer,
rucaparib (an inhibitor of PARP) for the treatment of cancers with deficiencies
in DNA repair, and lucitanib (an inhibitor of FGF and VEGF receptors) being
developed in advanced breast and squamous cell lung cancer. He previously spent
15 years at Johnson & Johnson, building biomarker and companion diagnostic
programs within the diagnostics (Veridex and Ortho-Clinical Diagnostics) and
pharmaceutical (Janssen) franchises. Dr. Raponi received his Ph.D. in Molecular
Genetics and Biochemistry from the University of New South Wales, Australia,
and has published in the fields of gene therapy, cancer genomics and
Stefan Roever, CEO & Founder, Genia Technologies
Stefan Roever has a broad entrepreneurial, software, and finance background. He was Co-Founder and CEO of Brokat Technologies, an encryption banking software company. Brokat reached a several billion dollar market cap and went public in 1998 on the Frankfurt Stock Exchange and on NASDAQ in 2000. Mr. Roever was honored with the Ernst and Young Entrepreneur of the Year Award in Germany. He is an active private equity investor and currently serves as Chairman of WRS Materials, a roll-up of wafer reclaim companies. Mr. Roever also is a two time award holder of Technology Pioneer by the World Economic Forum. He earned degrees in both economics and law from the University of Tuebingen.
Salit, Ph.D., Group Leader, Biochemical Science and Multiplexed Biomolecular
Science, National Institute of Standards and Technology (NIST)
Marc Salit is leading a
multidisciplinary team at the National Institute of Standards and Technology
(NIST) to develop tools for understanding measurement performance in
genomics. His research is focused on bringing experience from the chemical
metrology community to problems in bioscience, with an emphasis
on development of the reference materials, data and methods to support
translation of genomic science from research applications into clinical
practice. He is also the NIST leader for the Advances in Biological and
Medical Measurement Science at Stanford University, where NIST scientists are
collaborating with Stanford faculty groups and Silicon Valley companies on
measurement science to underpin advances in engineered biology and clinical
applications of genomic technology. He has worked in measurement science in
chemistry and physics, with emphasis on precision measurements, lab automation,
algorithm development, measurement uncertainty, metrological traceability
and standards development.
A. Schneider, Ph.D., Staff Scientist, National Center for Biotechnology
Information, National Library of Medicine, National Institutes of Health
A. Schneider received her Ph.D. from Harvard University in 2001 and did her
postdoctoral training at the University of Pennsylvania School of Medicine
(2001-2007). Since 2008, she has been a Staff Scientist at the National Center
for Biotechnology Information (NCBI). She leads the team responsible for data
management and curation for the Genome Reference Consortium (GRC), the group
responsible for the continued improvement of the human, mouse and zebrafish
reference assemblies. Dr. Schneider also oversees the groups responsible for
the NCBI Clone DB, a resource that integrates various forms of information
associated with genomic and cell-based clones to facilitate their use in a
laboratory setting, and for the development of tools and infrastructure used
for the visualization and analysis of genomes, including the NCBI MapViewer,
Remap Service and Variation Viewer.
Michael M. Segal, M.D., Ph.D., Founder, Chief Scientist, SimulConsult
Dr. Segal did his MD, PhD and pediatric neurology residency at Columbia, and then joined the faculty at Harvard Medical School. He founded SimulConsult to help in clinical diagnosis, using a detailed database of findings in diseases to achieve high diagnostic accuracy. When users of the software began to use it for manual triage and analysis in genomic diagnosis, he automated the process to create a genome-phenome analysis. The resulting ability to rank genes by their pertinence and do the analysis in a hypothesis-independent way resulted in a fast and accurate way to identify causal genes and the relevant underlying variants.
Martin Siaw, Ph.D., MB(ASCP)CM, Associate Scientific Director, Advanced Sequencing, Quest Diagnostics Nichols Institute
Martin Siaw is currently the Associate Director of Advanced Sequencing at Quest Diagnostics. He has many years of laboratory experience and technical expertise in assay development for the biotechnology and medical diagnostics industry. He was the technical co-lead for the development of the first NGS-based test for HIV-1 Tropism that is being offered by Quest Diagnostics. Currently, he is focused on advancing the use of next-generation sequencing technologies for molecular diagnostic testing geared towards improving patient care in Infectious Diseases, Genetics, Oncology and various other clinical sub-specialties.
Enakshi Singh, MSc, Product Manager, SAP HANA Platform for Healthcare, SAP Labs LLC
Enakshi Singh is the product manager of the SAP HANA Platform for Healthcare. She works with multidisciplinary teams at SAP and collaborates with renowned genomic researchers to develop software solutions for real-time analyses of large-scale biological, lifestyle and clinical data. Enakshi received her M.Sc. in Neuroscience at McMaster University in Ontario, Canada. Her Masters’ thesis focused on the developmental distribution of the NMDA receptor in the auditory brainstem of rat. She also earned a BSc. in Psychology, Neuroscience and Behavior at McMaster University.
Tynan, Ph.D., Business Development & Strategic Consulting for Diagnostics
Companies, Tynan Consulting LLC
Dr. Tynan is
a seasoned biotechnology entrepreneur with a focus on product development,
business planning and market entry strategies for clinical diagnostic
companies. She has a background in evidence development, pricing, reimbursement
and commercialization for a diversity of diagnostics ranging from whole-genome
sequencing to point-of-care devices. In her current role as a consultant she
works with a number of diagnostic companies and investors guiding them through
product development choices, market entry strategies, funding ($21M raised) and
a diverse range of business development transactions ($1M to >$600M). Prior
to consulting, Dr. Tynan was at Vitra Bioscience (VP of Strategic Marketing), a
venture-backed biotechnology tools company, where she managed a broad range of
functional areas including marketing, business development, operations,
finance, legal and IP, and participated in raising over $15M in capital. Previously,
she worked at Applied Biosystems in strategic planning (including Celera and
Celera Diagnostics), business development, research management and product
development roles. Prior to Applied Biosystems, Katherine directed the
Molecular Genetics Department for Oncogenetics / Datagenetics, a startup
esoteric diagnostic services company (acquired by Impath and subsequently by
Eckehart Urban, Ph.D., Assistant Professor, Department of Psychiatry and
Behavioral Sciences and Department of Genetics (secondary), Center for Genomics
and Personalized Medicine, Stanford University School of Medicine
Urban received a Ph.D. in Molecular, Cellular and Developmental Biology from
Yale University. He then carried out postdoctoral work in Genetics at Yale. He
has been an Assistant Professor of Psychiatry and Genetics and a member of the
Genome Center and the Program on the Genetics of Brain Function, respectively,
at Stanford University since 2010 and is a recipient of a NARSAD Young Investigator
Award and an NIH Director’s New Innovator Award.
Glen J. Weiss, M.D., MBA,
Director, Clinical Research, Cancer Treatment Centers of America
J. Weiss, M.D., MBA, serves as the Director of Clinical Research at Cancer
Treatment Centers of America (CTCA) at Western Regional Medical Center. Board
certified in internal medicine and medical oncology, Dr. Weiss has already
completed numerous clinical trials with investigational agents, a few of which
have already gone on to receive FDA approval for certain cancers. He also
serves as a Clinical Associate Professor and Co-Head of the Lung Cancer Unit of
the Cancer and Cell Biology Division at the Translational Genomics Research
Institute (TGen) in Phoenix and Clinical Associate Professor at the University
of Arizona College of Medicine-Phoenix. With his collaborators at TGen, he has
completed and published one of the first prospective clinical studies involving
whole-genome and whole-transcriptome sequencing in advanced cancer patients.
Colin Williams, Ph.D., Director, Product Strategy, Thomson Reuters
Colin graduated from the University of Sheffield with a PhD in Protein Crystallography. Following a Post-doctoral position, Colin spent a number of years as a founder member of a diagnostic start-up in Cambridge UK, developing a novel isothermal DNA amplification technology for Point of Care. Joining Thomson Reuters in 2005, Colin currently leads efforts in supporting the information needs for professionals involved in patient stratification and precision medicine.
Rina Wolf, Vice President of
Commercialization Strategies, Consulting and Industry Affairs, XIFIN
Rina Wolf is a nationally
recognized expert in the field of laboratory commercialization and reimbursement,
with over 20 years of experience in the diagnostic laboratory industry,
specializing in Molecular Diagnostic Laboratories. She lectures extensively on
these topics and has consulted for major laboratories and laboratory associations
throughout the U.S. She is a former president and board member of the
California Clinical Laboratory Association and is an active participant with
the ACLA (American Clinical Laboratory Association) and the Personalized
Medicine Coalition. Ms. Wolf also advises and presents to investor audiences;
recent speaking engagements include Piper Jaffray, Cowen Group and Bloomberg’s
G2 Intelligence Lab Investment Forum. Most recently Ms. Wolf held the position
of Vice President of Reimbursement and Regulatory Affairs at Axial Biotech,
Inc., where she was responsible for creating and implementing their successful
reimbursement strategies. Prior to joining Axial Biotech, Inc., Ms. Wolf held
executive positions in the area of commercialization and reimbursement at
RedPath Integrated Pathology, Inc., Genomic Health, Inc. and Esoterix (now
LabCorp). Ms. Wolf has a Bachelor of Arts degree from UCLA and a Masters of
Elizabeth Worthey, Ph.D., Assistant
Professor, Pediatrics & Bioinformatics Program, Human & Molecular
Genetics Center, Medical College of Wisconsin
Dr. Worthey is an Assistant Professor in
Pediatrics and the Director of Genomic Informatics at the Human and Molecular
Genetics Center at the Medical College of Wisconsin. She is an expert in the fields
of bioinformatics, genetics and genomics, with a focus on application of
genomics approaches to human health and disease. She was first author on a
landmark report where whole-exome sequencing and analysis of a child suffering
from a rare, devastating bowel disease identified a novel mutation leading to
diagnosis and subsequent successful treatment. She continues to develop
innovative tools and methodologies in support of clinical diagnostic and
clinical research WGS; these tools are being used to uncover causative
mutations and end diagnostic odysseys.
Kai Ye, Ph.D.,
Research Assistant Professor, Genetics, The Genome Institute, Washington
Kai Ye is a
research assistant professor in the Genome Institute at Washington University
in St Louis. He received his Ph.D. from Leiden University, the Netherlands in
2008. His thesis work was on novel algorithms on protein sequences. Kai has an
M.S. and B.S. in pharmacy from Wuhan University, China. He was an assistant
professor at Leiden University Medical Center.