Concurrent Session 1B: Rare and Undiagnosed Diseases

Wednesday, September 12
10:15 AM - 11:45 AM

Moderator :
Eric W. Klee, PhD

Senior Associate Consultant II
Center for Individualized Medicine; Department of Health Sciences Research; Department of Clinical Genomics, Mayo Clinic
Rochester, Minnesota

Eric W. Klee, PhD, is an Assistant Professor of Medical Informatics and Bioinformatics Program faculty member in the Department of Health Sciences Research, and has been at the Mayo Clinic since 2005. Dr. Klee is Director of Bioinformatics of Mayo Clinic’s Clinical Genome Sequencing Laboratory and member of the Department of Laboratory Medicine and Pathology, a position held since 2012. Dr. Klee is also the Associate Director of Mayo Clinic’s Center for Individualized Medicine Bioinformatics Program and has directed the Individualized Medicine Bioinformatics team since 2012.

Dr. Klee earned his Bachelors of Science degree in Electrical Engineering at Iowa State University in 1997, obtained a Master of Science degree in Health Informatics with focus in Bioinformatics at the University of Minnesota, Minneapolis. He went on to complete his PhD in Health Informatics and Bioinformatics in the University of Minnesota, Minneapolis, in 2005.

Dr. Klee’s research is focused on the application of next generation sequencing for clinical testing and diagnostics. His work includes the translation of emerging bioinformatics methods from the research domain into clinical practice. He is actively involved in the in development and implementation of systems to support sequence analysis and interpretation in the context of individualized, precision medicine. Dr. Klee also leads a functional validation program that uses experimental techniques to better characterize the putative role of variants of uncertain significance in the context of patient-specific disease state.

Presentation(s):

Send Email for Eric Klee

Concurrent Speaker :
Konstantinos Lazaridis, MD

Professor of Medicine, College of Medicine and Science
Center for Individualized Medicine
Mayo Clinic
Rochester, Minnesota

Konstantinos Lazaridis, MD is considered a leader in the area of the genomics of chronic cholestatic liver diseases, namely, Primary Biliary Cirrhosis (PBC) and Primary Sclerosing Cholangitis (PSC). Since 2003, he has established and is the principal investigator of the two national consortia for studying patients afflicted with these diseases. His research group applies the latest genomic and genetic epidemiology approaches to better understand the pathogenesis and improve the therapy of patients with PBC and PSC. This research effort is supported by the NIH. He was elected to the American Society of Clinical Investigation (ASCI) in 2015.

As associate director of the Center for Individualized Medicine in Rochester, Dr. Lazaridis has been instrumental in establishing and expanding the Individualized Medicine Clinic and in directing the Clinomics program that seeks to integrate the latest genomic discoveries into clinical care. Dr. Lazaridis is a physician in the Division of Gastroenterology and Hepatology and the Everett J. and Jane M. Hauck Associate Director, Center for Individualized Medicine, Mayo Clinic in Rochester. Dr. Lazaridis received his medical degree at the University of Ioannina in Greece. He completed his Internal Medicine and Gastroenterology fellowship training at Mayo Clinic and was a Mayo Clinic Scholar in Genomics in the laboratory of Dr. Francis Collins at the National Human Genome Research Institute.

Presentation(s):

Send Email for Konstantinos Lazaridis

Concurrent Speaker :
Erica Barnes, MA

Executive Director
Chloe's Fight Rare Disease Foundation

Erica Barnes, MA is a rare disease advocate and the Executive Director of Chloe’s Fight Rare Disease Foundation which she co-founded with her husband following the loss of her daughter Chloe to metachromatic leukodystrophy in 2010. She is also the volunteer State Ambassador in Minnesota leading the Rare Action Network for NORD (National Organization for Rare Disorders). Erica has written numerous articles for national publications on various rare disease topics and is a public speaker. She lives in Hopkins, Minnesota with her husband and two children.

Presentation(s):

Send Email for Erica Barnes

Moderator :
Matthew J. Ferber, PhD

Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic
Rochester, Minnesota

Matthew Ferber, PhD is an assistant professor and consultant in the Department of Laboratory Medicine and Pathology serving as a Co-Director for the Clinical Molecular Genetics Laboratory and the founder of the Clinical Genome Sequencing Laboratory at Mayo. He has worked very closely with Mayo Clinic's Center For Individualized Medicine over the years serving as a founding member of the Clinomics program, which created the Individualized Medicine Clinic and Mayo's Diagnostic Odyssey Services.

Presentation(s):

Send Email for Matthew Ferber

Concurrent Speaker :
Jane Juusola, PhD, FACMG

Director
Clinical Genomics
GeneDx
Gaithersburg, Maryland

Presentation(s):

Send Email for Jane Juusola


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