Rare/Undiagnosed Disease; Patient Cases

4D - Undiagnosed and Rare Disease Studies
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5

Tuesday, October 10
1:20 PM - 2:50 PM

Millions of individuals world wide suffer from a rare genetic condition and, for many, traditional testing approaches are unable to resolve the genetic etiology of their disease. In recent years, genomic sequencing has enabled ~25-30% of patients to receive a genetic diagnoses to end their medical mystery. However, understanding and interpreting clinical exome sequencing results can cover such a broad field of phenotypes and is non-trivial, leading to the creation of both foci of expertise within academic medical centers and also world-wide collaborative networks specializing in discovery of gene-disease relationships leading to patient diagnoses. This session brings together leaders from these centers to highlight the challenges and successes experienced to-date, and discuss emerging opportunities, such as new technologies, additional omic-profiling, and data sharing, that may advance this field and improve diagnostic yield.

Learning Objectives:

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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Wendy A.G van Zelst-Stams

Clinical Geneticist, Head of Division Clinical Genetics; Dutch representative at Board of Member States for European Reference Networks
Radboud University Medical Center, Nijmegen, The Netherlands

Dr. Wendy van Zelst-Stams is a clinical geneticist and head of the clinical genetics section at the dept. of Human Genetics of the Radboud University Medical Center in Nijmegen, The Netherlands. She focuses on implementing new genetic diagnostic tools in daily clinical practice especially in the field of rare and undiagnosed diseases. She is the national coordinator for the designation of centers of expertise for rare diseases according to the Dutch national plan on rare diseases. She is one of the two Dutch representatives in the board of Member States of the European Reference Networks for rare diseases and member of the Undiagnosed Diseases International Network.


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Donald Basel

Associate Professor, Chief Medical Genetics
Medical College of Wisconsin

Donald Basel, MD, is currently the Medical Director for the clinical genetics services for Childrens Hospital of Wisconsin. He is an Associate Professor at the Medical College of Wisconsin and Chief of the Division of Genetics within the Department of Pediatrics. He is the Associate Director for the Rare and Undiagnosed Disease Program within the Genome Sciences and Precision Medicine Center and additionally is the Director of the Medical Genetics Fellowship program. He did his medical training in South Africa, moved to America in 2001 where he worked in a research laboratory studying connective tissue disorders with a focus on fibrillin and collagen 1 as well as exploring the genetic etiology of limb developmental disorders. He repeated his Genetic and Pediatric training in Portland Oregon prior to joining MCW in 2010.


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William A. Gahl

Clinical Director, National Human Genome Research Institute
National Institutes of Health

William A. Gahl, MD, PhD, earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), and his lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. Gahl has published more than 380 peer-reviewed papers and trained over 40 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served on the board of directors of the ABMG and American Society of Human Genetics, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, the RareVoice Award for a Government Agency Leader, and numerous other awards.


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4D - Undiagnosed and Rare Disease Studies
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5

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Send Email for Undiagnosed and Rare Disease Studies
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5