Rare/Undiagnosed Diseases; Patient Care

Rare Disease - Beyond Diagnoses and Moving From Hope to Help
In Collaboration with the Lysosomal Disease Symposium Supported by the Katie & Allie Buryk Fund at Mayo Clinic
CME (AMA PRA Category 1 Credits™) 3.5; Attendance CEU 3.5

Wednesday, October 11
8:00 AM - 12:00 PM

In aggregate, rare disease patients represent a significant unmet need in healthcare. Personalized medicine and related approaches have yielded new methods for diagnoses. However, limited therapeutic options are currently available for many patients with rare disease.

This session represents a series of researchers conducting innovative new approaches to novel therapeutics that can be personalized and potentially scaled for addressing patients with rare disease. In addition, active discussion focused on dynamic business models to address this major bottleneck in therapeutic development for those wit rare disease.

Learning Objectives:

Karl J. Clark

Assistant Professor of Biochemistry and Molecular Biology
Mayo Clinic

Karl Clark, PhD, is an Assistant Professor at the Mayo Clinic in Rochester, MN. Â Dr. Clark's research laboratory uses genome engineering and zebrafish to study the vertebrate stress response system, a diverse suite of neuronal, endocrine and autonomic response mechanisms that play key roles in environmental interactions. Dr. Clark's research goals are to contribute to better understanding of the development of the stress response system, how it impacts patient health, and how it can be modulated for the benefit of patients. Dr. Clark is also the director of the Functional Validation Lab, a component of the Individualized Medicine Investigative and Functional Genomic Research Program. Dr. Clark earned his Bachelor of Science from the University of Wisconsin- Eau Claire in Biochemistry and Molecular Biology. He attended graduate school at the University of Minnesota, where he trained with Dr. Perry Hackett and helped develop the Sleeping Beauty transposon system, earning his Ph.D. from the Molecular, Cellular, Developmental Biology, and Genetics program. Dr. Clark worked at Discovery Genomics, Inc., a gene therapy startup in Minneapolis, MN, before returning to the University of Minnesota for post-doctoral training in Dr. Scott Fahrenkrug's laboratory. There he helped improve genome engineering applications in livestock that contributed to starting Recombinetics, Inc., a livestock genome-editing company. He moved to Mayo Clinic to work and train with Dr. Stephen Ekker before starting his own laboratory.


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Eric W. Klee

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

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.


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Agustin J. Lopez Marquez

VP, Business Development and Marketing
nference and Qrativ

Agustin J. Lopez-Marquez recently served as Head of the Innovation and Advanced Analytics team and Head of Market Intelligence and Insights for the Global Oncology and Internal Medicine franchises at Shire.

Before Shire, Agustin co-founded and served as CEO/President of the cell immunotherapy start-up SQZ Biotech from 2013 to 2015. SQZ Biotech commercializes the CellSqueeze technology that was invented at MIT by Dr. Armon Sharei in the labs of biotech pioneer Professor Bob Langer and Professor Klavs Jensen. SQZ Biotech won the first prize in MassChallenge 2014 (out of 1,600+ start-ups) and it was selected as a FierceBiotech's Fierce 15 company as one of the 15 most promising biotech startups in 2015. Its technology CellSqueeze was selected as one of the 10 world changing ideas by Scientific American in 2014. SQZ Biotech signed in 2015 a $500M deal with Roche to jointly develop cancer immunotherapies.

From 2010 until 2013, Agustin worked for Novartis Vaccines as part of the Global Leadership Program with international assignments in UK, Germany, Italy and US. He was the Global Value Chain Manager for the Novartis' meningitis vaccines portfolio ($300m in annual sales).

Agustin started his career in P&G in 2005 as an R&D engineer where he led the development of a new product in Latin America. Both final product and marketing campaign obtained best results ever when tested among target consumers. Product was later introduced in Asia and Europe. Then, he completed his MS in Chemical Engineering at MIT in 2009. Agustin has a BS in Chemical Engineering from Universidad Simon Bolivar (Caracas, Venezuela).


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Allan Dietz

Director, IMPACT (Immune, Progenitor, and Cellular Therapeutics)
Mayo Clinic

Allan B. Dietz, PhD, is the Director of IMPACT (Immune, Progenitor, and Cellular Therapeutics) a GMP facility at Mayo Clinic, Rochester, Minnesota. This facility is the equivalent of a Mayo Clinic Drug Company charged with identifying, translating, and implementing the use of cells as drugs. Dr. Dietz has established multiple cell therapy platforms that offer physicians across multiple disciplines an opportunity to treat patients with investigational cell therapies. The cancer vaccine (immunotherapy) platform is currently treating patients in clinical trials for NHL, GBM, Melanoma, and Ovarian cancer. The stem cell (MSC) platform is currently being evaluated in multiple indications across thirteen independent trials. Across the entire effort, we are approaching treating our 500th patient manufacturing approximately 1000 doses of cells for some of the most difficult to treat diseases. Technology from the lab has resulted in more than 100 papers published as well as multiple patent applications and technology licenses to cell therapy companies.


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Michael A. Barry

Mayo Clinic

Michael Barry, PhD, received his Ph.D. from Dartmouth College for work in the early days of apoptosis analyzing how anticancer agents activate this program in Dr. Alan Eastman's laboratory. He then performed a post-doctoral fellowship with Dr. Stephen Johnston working on gene gun, genetic immunization, and adenovirus vector targeting. Dr. Barry was on the faculty for 10 years at Baylor College of Medicine and Rice University and moved in 1996 to Mayo Clinic. His current work involves using genes and viruses as drugs for gene therapy, genetic vaccines, and oncolytic virotherapy. This work involves cell targeting technologies including targeting and detargeting viral vectors, imaging and pharmacologic assessment of virus distribution, and evaluation of humoral and cellular immune responses against viral and vaccine antigens.


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Saad Kenderian

Assistant Professor of Immunology and Medicine and Oncology
Mayo Clinic

Saad Kenderian, MB, ChB, is a Mayo Clinic scholar in the Department of Hematology in Rochester. He holds the rank of Assistant Professor of Medicine in Oncology, Mayo Clinic College of Medicine. Dr. Kenderian earned his medical degree at University of Baghdad College of Medicine. He completed his internal medicine residency and chief residency at Michigan State University, McLaren Hospital, and a fellowship in hematology/oncology at the Mayo School of Graduate Medical Education in Rochester, MN. Dr. Kenderian's research interests are in allogeneic stem cell transplantation and adoptive cellular therapies in hematological malignancies. He is currently working as a Mayo Clinic scholar and postdoctoral fellow at the translational research programs (laboratory of Carl H. June, MD) of the University of Pennsylvania. He is studying the development and activity of novel chimeric antigen receptor (CAR) T cell therapy in leukemia and lymphoma. Dr. Kenderian's goal is to help establish an immunotherapy program within at the Mayo Clinic in collaboration with the group at the University of Pennsylvania.

Dr. Kenderian's work has resulted in several publications and multiple national and international presentations. He holds memberships with the American Society of Hematology, American Society of Bone and Marrow Transplantation, European Hematology Association, American Association for Cancer Research, and the American Society of Gene and Cell Therapy

Throughout his training, Dr. Kenderian has received numerous honors and awards, including: the Resident Investigator award, the Team Leader award, the Consummate Physician award, awarded by Michigan State University and the outstanding Hematology/Oncology Achievement award, conferred by the Hematology Oncology Fellowship program of Mayo School of Graduate Medical Education.


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Margot Cousin

Research Fellow
Center for Individualized Medicine, Mayo Clinic

Margot A. Cousin, Ph.D. is a postdoctoral research fellow in the Department of Health Sciences Research and in the Center for Individualized Medicine at Mayo Clinic.

Dr. Cousin earned her B.S. degree in diagnostic genetics and mathematics from Northern Michigan University. She worked for the Genomics Laboratory in the Department of Laboratory Medicine and Pathology at Mayo Clinic and maintains certifications as a Medical Laboratory Technician and Cytogenetic Technologist through the American Society for Clinical Pathology.

Dr. Cousin then earned her Ph.D. in Clinical and Translational Science from Mayo Graduate School. Her thesis research focused on elucidating the genetic contribution to tobacco dependence and treatment response and identifying novel treatments through drug repurposing using a zebrafish model. In support of her graduate training, Dr. Cousin obtained an Individual Predoctoral Fellowship (F31) Ruth L. Kirschstein National Research Service Award from the National Institute on Drug Abuse.

Dr. Cousin's current research focuses on increasing the diagnostic rate for rare undiagnosed disease through the use of novel -omic testing methodologies and functional studies of candidate genetic alterations. A current interest of hers centers on the use of whole transcriptome sequencing to identify and functionally assess genetic variation that may cause disease. Dr. Cousin aims to translate such methodological developments into clinical use to systematically improve the practice and delivery of precision medicine. She has authored many journal articles, abstracts, and presented at national and international meetings.

In addition to her research pursuits, Dr. Cousin has mentored middle school, high school, and undergraduate students on original research projects in the laboratory, and mentored rotating clinical laboratory fellows on the Diagnostic Odyssey Service Line within the Center for Individualized Medicine. She has also contributed to developing and teaching a graduate course titled: Case Studies in Precision Medicine within Mayo Graduate School.


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Marc C. Patterson

Neurology, Professor of Medical Genetics, Neurology, and Pediatrics
Mayo Clinic

Marc Patterson was born and educated in Australia, and trained in neurology, child neurology and neurometabolic disease at the University of Queensland, at Mayo Clinic, and at NINDS/NIH, the last mentioned under the guidance of Roscoe Brady, MD. He is currently Professor of Neurology, Pediatrics and Medical Genetics. He was Director of the Child Neurology Training program at Mayo 2008-2016), and Chair of the Division of Child and Adolescent Neurology (2008-2017); he had previously served as Professor and Director of Pediatric Neurology at Columbia University in New York (2001-2007). He has served as a member of the Neurology topic advisory group for revision of the ICD-10 of the World Health Organization, the Committee on Adverse Effects of Vaccines for the Institute of Medicine, and leads the Education Core of the NIH-funded Lysosomal Disease Network.

He has served in a number of positions in the Child Neurology Society, American Academy of Neurology, American Board of Psychiatry and Neurology and American Neurological Association. Professor Patterson has served on the editorial board of Neurology, on the oversight committee of Annals of Neurology and is currently an Editor for the Journal of Inherited Metabolic Disease. He became Editor-in Chief of the Journal of Child Neurology on January 1st, 2014, and subsequently Editor-in-Chief of its open-access sister journal, Child Neurology Open.

His research and practice has focused on rare diseases in children, including multiple sclerosis and neurometabolic disorders in general, with special interests in Niemann-Pick disease, type C, other lysosomal diseases (including glycoproteinoses), mitochondrial cytopathies and congenital disorders of glycosylation, areas in which he has published more than 200 peer-reviewed papers and book chapters. He has presented widely through the United States and internationally, both to professional and lay organizations. Dr Patterson has received funding support from NIH, industry and private foundations.


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Rare Disease - Beyond Diagnoses and Moving From Hope to Help
In Collaboration with the Lysosomal Disease Symposium Supported by the Katie & Allie Buryk Fund at Mayo Clinic
CME (AMA PRA Category 1 Credits™) 3.5; Attendance CEU 3.5

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Send Email for Rare Disease - Beyond Diagnoses and Moving From Hope to Help
In Collaboration with the Lysosomal Disease Symposium Supported by the Katie & Allie Buryk Fund at Mayo Clinic
CME (AMA PRA Category 1 Credits™) 3.5; Attendance CEU 3.5