Overview of NINDS Essential Tremor Workshop
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1 Overview of NINDS Essential Tremor Workshop Ashlee Van t Veer, PhD National Institute of Neurological Disorders and Stroke, NIH September 19, 2015
2 The National Institutes of Health NIH s mission is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability.
3 Content Slide Title Place Holder This is a paragraph placeholder content. Lorem ipsum dolor sit amet, consectetur adipisicing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation. Bullet Content A Bullet Content B Bullet Content C
4 National Institute of Neurological Disorders and Stroke (NINDS) NINDS Mission The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.
5 Extramural Research Program Staff Administer scientific programs Oversee grant portfolios Act as an advocate for a scientific area Dr. Katrina Gwinn, Program Director Oversees Essential Tremor Grants at NINDS
6 Types of Research NIH Funds in ET (some examples) Basic Treatment Imaging Genetics
7 NIH RePORTER (projectreporter.nih.gov)
8 NIH RePORTER (projectreporter.nih.gov)
9 Essential Tremor May be the Most common Movement Disorder Treatment: medications or deep brain stimulation Estimates that 30-50% not responsive Burden of Illness Can last 40 years or more Impairs handwriting, typing, eating Can impair voice Stigma: person seems nervous Many report disability in activities of daily living, some quit profession
10 ET Research Essential Tremor has many features that should make it scientifically tractable Familial Can be measured objectively Prevalence should help recruitment goals for trials However Genetics not straightforward Confounders (medical) Medications, medical conditions No Pathological signature
11
12 Planning Team Leaders NINDS: Dr. Katrina Gwinn Dr. Wendy Galpern Academia: Meeting Co-Chairs Dr. Günther Deuschl Dr. Rodger Elble
13 Workshop Planning Calls with chairs about discussion topics Define sessions of meeting Develop agenda Invitation of session chairs and discussants Calls with each session group to refine topics
14 Five Sessions Covering What is Known and Unkown in ET 1. Phenomenology and Phenotypes 2. Clinical Trials and Therapies What have/can we learn 3. Physiology 4. Pathology 5. Genetics
15 Session Summary Document Phenomenology and Phenotypes Kailash Bhatia, MD Charles Adler, MD, PhD Günther Deuschl, MD David Eidelberg, MD Mark Hallett, MD NINDS Clinical William Ondo, MD Rodger Elble, MD, PhD Wendy Galpern, MD, PhD Glen Stebbins, PhD Carlie Tanner, MD, PhD Physiology Mark Hallett, MD Rick Helmich, MD, PhD Fred Lenz, MD Roy Sillitoe, PhD Peter Strick, PhD David Vaillancourt, PhD Jerrold Vitek, MD, PhD Pathology Elan Louis, MD Holly Shill, MD Matthew Frosch, MD, PhD Rodger Elble, MD, PhD Genetics Tatiana Foroud, PhD Katrina Gwinn, MD Gregor Kuhlenbäumer, MD, PhD Andrew Singleton, PhD Claudia Testa, MD, PhD
16 Working Lunch Session with Advocacy Group Presentations Advocacy Ideas from a Nursing Perspective- HopeNET invited speaker Presented by Deborah Zeller Patient Perspective-International Essential Tremor Foundation (IETF) Presented by Cathy Rice
17 White Paper will be published with recommendations from the meeting
18 What is a Common Data Element (CDE)? A fixed representation of a variable comprising A precisely specified question Q: What is the participant s age? A fixed set of permissible answers, which can be discrete or continuous over a range A: 18, 30, 63 etc. years Used in common across multiple sites, projects, etc. Typically represent core variables, not all variables
19 Why Use CDEs? Consistent data collection of core set of variables from different sources (sites, projects) which allows for valid sharing & comparing of data Aggregation of data to increase statistical power Rigorous comparison of data & results
20 Evidence of Genetics in ET Proportion of ET patients with a family history of ET ranges from 20-90% ET patients with a positive family history of ET have an earlier onset as compared with those who don t have a positive family history Heritability estimated at 45-90%
21 Technological Developments in Genetics 1990 s Linkage analysis Genome-wide association analysis 2010-now Next-generation sequencing Used in large families to find causative genes with large effect on disease risk Used to find common variants with small effect on disease risk Used to find rare or novel variants with large effect on disease risk We have not reached the optimal sample size for ET
22 Individuals with ET Can Help! 1. Sample size is critical in all gene discovery efforts to consider the full spectrum of genetic differences that could affect risk expand beyond extremely large tremor families Include sporadic tremor 2. Need to collect a range of phenotypes
23 ET information and studies can be found at ninds.nih.gov in the Disorders A-Z section
24
25 Find Studies at clinicaltrials.gov
26 NINDS Seeking Knowledge about the Brain... Reducing the Burden of Disease
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