|Event Time:||Tuesday April 29, 2014 1:00 pm to 5:00 pm|
|Topic(s):||General Neurology, Research Methodology, Education, and History|
|Director(s):||Petra Kaufmann MD, FAAN, Mark Mehler MD, FAAN|
|Description:||This program will provide an integrative journey through the evolving revolution in molecular genetics and associated technologies and their immediate and more long-term applications, including a broad perspective on the promise genomic medicine holds, an introduction into the spectrum of genomic information that can be interrogated, different perspectives on the ethical challenges that will increasingly arise, and the practical perspective of a neurologist using such evolving genomic information. This will be followed by a panel discussion with audience participation.|
|Completion Message:||Participants should be more familiar with novel genetic tools, with the potential benefits and limitations of using the resulting datasets in neurological diagnosis, and with some of the associated ethical and practical issues.|
|1:00 PM - 1:25 PM||Advances in Epigenetics and its Implications for Understanding and Treating Neurological Disorders||Mark F. Mehler MD, FAAN|
|1:25 PM - 1:50 PM||How Gene Networks and Systems Biology Informs Our Understanding of Nervous System Disease||Daniel H. Geschwind MD, PhD|
|1:50 PM - 2:15 PM||New Genetic Tools and Their Impact on the Diagnosis of Neuromuscular Disorders||Kenneth H. Fischbeck MD, FAAN|
|2:15 PM - 2:40 PM||Clinical Whole-Exome Sequencing in the Diagnosis of Mendelian Disorders of the CNS||Arthur Beaudet MD|
|2:40 PM - 3:05 PM||Using Genomics in Routine Clinical Care||Teri Manolio MD, PhD|
|3:05 PM - 3:30 PM||Advances in Genetics and Impact on the Treatment of Neurological Disease||Beverly Davidson PhD|
|3:30 PM - 4:30 PM||Poster Rounds/Panel Discussion||None|
|4:30 PM - 5:00 PM||Data Blitz||None|
|Arthur Beaudet, MD||Third rock Ventures, consultation. Licensing knockout mice to various companies through academic office.. Libra Genetics, founder startup company studying noninvasive prenatal diagnosis.|
|Beverly Davidson, PhD||Dr. Davidson has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Intellia Therapeutics, Sarepta Therapeutics, Homology Medicines, Prevail Therapeutics. Dr. Davidson has received personal compensation in an editorial capacity for Molecular Therapy . Dr. Davidson has received royalty, license fees, or contractual rights payments from University of Iowa. Dr. Davidson holds stock and/or stock options in Spark Therapeutics, Intellia Therapeutics which sponsored research in which Dr. Davidson was involved as an investigator. Dr. Davidson holds stock and/or stock options in Spark Therapeutics, Intellia Therapeutics. Dr. Davidson has received research support from Spark Therapeutics, Intellia Therapeutics, Homology Medicines.|
|Kenneth H. Fischbeck, MD, FAAN||Dr. Fischbeck has nothing to disclose.|
|Daniel H. Geschwind, MD, PhD||Dr. Geschwind has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Ovid Therapeutics, Axial Biotherapeutics and Falcon Computing. Dr. Geschwind has received personal compensation in an editorial capacity for Biological Psychiatry as associate editor and NYAS (Editor, The year in neurology and psychiatry). Dr. Geschwind has received research support from Roche and Takeda Pharmaceutical.|
|Teri Manolio, MD, PhD||Dr. Manolio has nothing to disclose.|
|Mark F. Mehler, MD, FAAN||Dr. Mehler has nothing to disclose.|
|3:30 PM||001||Exome Sequencing Identifies PINCH2 Mutations in Early Onset Autosomal Recessive LGMD with Severe Cardiomyopathy and Triangular Tongues||
Jodi Warman Chardon, MD, MSc
Dr. Warman Chardon has nothing to disclose.
|3:30 PM||002||Genetic & Neuroanatomic Associations in Sporadic Frontotemporal Lobar Degeneration||
Corey McMillan, PHD
Dr. McMillan has nothing to disclose.
|3:30 PM||003||Transcript profiling analysis of Alzheimer's disease brains.||
Mariet Allen, PhD
Dr. Allen has nothing to disclose.
|3:30 PM||004||Novel Mutation in VCP Causes Charcot-Marie-Tooth Type 2 (CMT2) Phenotype||
Shawna Feely, MS, CGC
Dr. Feely has nothing to disclose.
|3:30 PM||005||GCH1 Heterozygous Mutation Identified by Whole-Exome-Sequencing as a Treatable Condition in a Patient Presenting with Progressive Spastic Paraplegia||
Zheng Fan, MD
Dr. Fan has nothing to disclose.
|3:30 PM||006||Structural and Functional Implications of Modeling Non Synonymous Mutations in Patients with SCN1A-related Seizure Disorders||
Mu Gao, PhD
Dr. Gao has received research support from Intellimedix.
|3:30 PM||007||The Dissection of High-Penetrance Variants in extended Late-Onset Alzheimer Disease Families by Whole-Exome Sequencing||
Martin Kohli, PhD
Dr. Kohli has nothing to disclose.
|3:30 PM||008||TMEM106B is a Genetic Modifier of Frontotemporal Lobar Degeneration with C9orf72 Hexanucleotide Repeat Expansions||
Alice Chen-Plotkin, MD
Dr. Chen-Plotkin has nothing to disclose.
|3:30 PM||009||Expression QTL studies in LOAD and PSP brains by next-generation RNA sequencing||
Nilufer Taner, MD, PhD
Dr. Taner has nothing to disclose.
|4:30 PM||001||Late-onset Alzheimer disease neuropathology genomic screen identifies novel loci for neuritic plaque and other AD neuropathology features||
Gary Beecham, PhD
Dr. Beecham has nothing to disclose.
|4:35 PM||002||The TREM2 Variant p.R47H is a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis||
Matthew Harms, MD
Dr. Harms has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Biogen, Sanofi, and Maze Therapeutics.. Dr. Harms has received research support from Biogen.
|4:40 PM||003||TIGAR Inhibition Rescues Dopaminergic Neurons in Common Forms of Early Onset Parkinson's' Disease||
Oliver Bandmann, MD, PhD
Dr. Bandmann has nothing to disclose.
|4:45 PM||004||Investigation of transcriptional regulation at the Alzheimer's disease risk loci.||
Dr. Kachadoorian has nothing to disclose.
|4:50 PM||005||Spinal muscular atrophy phenotype is ameliorated either by SMN increase or modulation of secondary cell death events with RNA therapy||
Dr. Riboldi has nothing to disclose.