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August 2017; 3 (4) ArticleOpen Access

Prevalence of spinocerebellar ataxia 36 in a US population

Juliana M. Valera, Tatyana Diaz, Lauren E. Petty, Beatriz Quintáns, Zuleima Yáñez, Eric Boerwinkle, Donna Muzny, Dmitry Akhmedov, Rebecca Berdeaux, Maria J. Sobrido, Richard Gibbs, James R. Lupski, Daniel H. Geschwind, Susan Perlman, Jennifer E. Below, Brent L. Fogel
First published July 18, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000174
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Article Information

vol. 3 no. 4 e174
DOI: 
https://doi.org/10.1212/NXG.0000000000000174
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received September 20, 2016
  • Accepted in final form May 10, 2017
  • First Published July 18, 2017.
Copyright & Usage: 
Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Juliana M. Valera, MS,
    2. Tatyana Diaz,
    3. Lauren E. Petty, MS,
    4. Beatriz Quintáns, PhD,
    5. Zuleima Yáñez, PhD,
    6. Eric Boerwinkle, PhD,
    7. Donna Muzny, MS,
    8. Dmitry Akhmedov, PhD,
    9. Rebecca Berdeaux, PhD,
    10. Maria J. Sobrido, MD, PhD,
    11. Richard Gibbs, PhD,
    12. James R. Lupski, MD, PhD, DSc,
    13. Daniel H. Geschwind, MD, PhD,
    14. Susan Perlman, MD,
    15. Jennifer E. Below, PhD and
    16. Brent L. Fogel, MD, PhD
  1. Juliana M. Valera, MS,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Tatyana Diaz,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. Lauren E. Petty, MS,
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Beatriz Quintáns, PhD,
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (2)Genomic Consulting S.L.

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  5. Zuleima Yáñez, PhD,
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  6. Eric Boerwinkle, PhD,
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. Boerwinkle: ACTIVE 5 RC2 HL 102419-02 (Boerwinkle) 09/30/2009 ? 07/31/2012 1.20 calendar NIH/NHLBI $13,687,235 Building on GWAS for NHLBI-diseases: the CHARGE Consortium This project is to re-sequence selected regions identified in GWAS of major CVD traits. 5 N01HC 55016-40-0-1 (Ballantyne) 11/15/2010 ? 10/31/16 0.60 calendar NIH/NHLBI $384,834 Atherosclerosis Risk in Communities (ARIC) Study This project will carry-out analyze and publish targeted genetic and gene-environment interaction studies on coronary heart disease, congestive heart failure, endothelial function and lung function and provide expert guidance and leadership to the ARIC Steering Committee on technical, analytical and ethical issues related to large scale genomic research. 5 U01 HG 004803-04 (Heiss) 07/17/2008 ? 05/31/2013 0.36 calendar NIH/NHGRI-University of North Carolina, Chapel Hill $348,258 Genetic Epidemiology of Causal Variants Across the Life Course To accelerate the understanding of the role and population impact of putative causal genetic variants related to complex diseases. 5 RC2 HG005697 (Hixson) 09/30/2009 ? 08/31/2012 0.60 calendar NIH/NHLBI Next-Generation Medical Resequencing of Gout Disease Genes in the ARIC Cohort This project will use next-generation sequencing technology to resequence candidate genes in gout cases and controls from the ARIC cohort to identify genetic variants that influence gout and uric acid levels. 5 R01 HL 072810-09 (Boerwinkle) 06/01/2003 ? 02/28/2013 1.20 calendar NIH/NHLBI $694,917 Modeling DNA Diversity in Reverse Cholesterol Transport The goal of this Multi-Institutional Research Project grant is to identify the genes influencing HDL-C in the population-at-large. This research not only considers the individual effects of variation in each gene, but their interactions with other genes and with the environment. We also ask if these genetic variations predict CHD beyond the traditional risk factors, such as smoking and hypertension. 1 U01 HL 096917-02 (Mosley) 07/07/2010 ? 06/30/2013 0.60 calendar NIH/NHLBI/NINDS/NEI $244,613 ARIC Neurocognitive Study (ARIC NCS) ARIC NCS will identify risk factors for dementia, mild cognitive impairment, and cognitive decline in the biracial longitudinal ARIC cohort study of the natural history of atherosclerosis. 1 R01 HL 106034-02 (Xiong) 01/10/2011 ? 12/31/2014 0.60 calendar NIH/NHLBI $376,093 Statistical Methods for Finding Missing Heritability The goal of this proposal is to use genome continuum model as a general principle, data reduction, functional data analysis techniques, and systems biology tools for developing novel and powerful statistical methods for detection interaction between genes (or pathways) with both common and rare variants and environments with both discrete and continuous measurements, and carry out genome-wide gene-environment interaction. 2 U01 GM 074492-08 (Johnson) 08/03/2005 ? 07/31/2015 0.6 calendar NIH/NIGMS $337,485 Pharmacogenomic Evaluation of Antihypertensive Responses We will provide genetic analysis of all study samples for the genome spanning studies. 1 U54 HG006542-01 (Valle) 12/05/11 ? 11/30/15 0.6 calendar NIH Baylor-Johns Hopkins Center for Mendelian Genetics Collaboration with Drs. Valle and Lupski to identify genes leading to targeted Mendelian disorders. Analyzing data to establish genotype-phenotype associations which will also include formal statistical analyses of clustering of variants within a gene or gene region. 2 U54 HG003273-09 (Gibbs) 11/01/11 ? 10/31/2012 2.4 calendar NIH $235,162 The Human Genome Sequencing Center Active close collaboration on the statistical design and analysis of projects, particular population studies. Vicki Huff (Spouse): U10 CA09843-07S6 Huff (Co-PI) 09/01/2009- 08/31/2012 NIH/NCI $20,839 annual direct costs TARGET: Wilms Tumor, P. Adamson, PI 0.6 months The major goal of this project is to use genomic data to identify genes/pathways that can be therapeutically targeted in Wilms tumor patients RP100329 Huff (PI) 3/1/2010 - 2/28/2013 CPRIT (Cancer Prevention & Research Institute of Texas) $186,104 annual direct costs Next Generation Genomic Sequence Identification of the 19q 1.8 months Familial Wilms Tumor Predisposition Gene The major goal of this project is to identify the 19q familial WT gene using Next-Gen DNA sequencing data. RP110324 Huff (PI) 1/1/2011 - 12/31/2014 CPRIT (Cancer Prevention & Research Institute of Texas) $351,165 annual direct costs Impact of differentiation status on tumorigenesis 3.6 months The major goal of this project is to determine whether targeting gene alterations to different cellular compartments in the developing kidney will result in Wilms tumors that exhibit distinctive molecular and clinical characteristics. CA98543 09 Huff (Chair, COG Renal Tumor Biol Comm) 3/1/2012 - 2/28/2013 NIH/NCI Children's Oncology Group (COG). P. Adamson, PI $5,017 annual direct costs 0.3 months The goal of this project is to develop more efficacious therapies for Wilms tumor patients. My role is to head up the Renal Tumor Biology Committee that oversees and guides research projects that provide biological data to further this goal. CA016672 DePinho (PI) 9/14/1998 - 6/30/2013 NIH/NCI Huff, Director $283,568 annual direct costs Cancer Center Support Grant-Sequence & Microarray Facility 1.2 months The goal of this project is to provide MDACC investigators with state-of-the-art technology for DNA and RNA analyses. CA054498 Huff, PI, Subcontract 9/1/2012 - 8/31/2017 NIH/NCI Breslow (PI) $14,882 annual direct costs Late Effects of Treatment in Wilms Tumor Survivors 0.3 months The goal of this project is to assess the long- term consequences of treatment in survivors of WIlms tumor, with special reference to the role of germline WT1 mutations.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Donna Muzny, MS,
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. 1. NIH/NHGRI, 1UM1HG008898, senior investigator, 01/14/16 ? 10/31/19 2.NIH/NHLBI, 2 R01 HL078888-05A1, senior investigator, 02/15/12 ? 01/31/18 3.NHLBI-CSB-HV-2015-134-JS, HHSN268201500015C , senior investigator,09/25/15 ? 09/24/17 4.Centralized Omics REsources (CORE), HHSN68000331_NHLBI-CSB-HV- 2016-36-JS, senior investigator,09/25/16 ? 09/24/21 5.NIH DNA Sequencing Support for the eMERGE Network,1U01HG008664, senior investigator, 09/01/15 ? 05/31/19 6. NIH, U01HG007942, senior investigator, 09/22/14 ? 08/31/18

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Simons Foundation

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  8. Dmitry Akhmedov, PhD,
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. The American Heart Association, Postdoctoral fellowship 15POST25090134

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  9. Rebecca Berdeaux, PhD,
    10. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NIH: both attributed on the manuscript NIAMS R01AR059847 (PI) 2011-2017 NIDDK R01DK092590 (PI) 2011-2017

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  10. Maria J. Sobrido, MD, PhD,
    11. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Speaker honoraria from Actelion Pharmaceuticals, commercial entity

    Editorial Boards:

    1. Editorial Board member of: Human Mutation, Applied and Translational genomics

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other activities:

    1. CEO of Genomic Consulting, commercial company providing clinical genetic and genomic studies, and genetic counseling.

    Clinical procedures or imaging studies:

    1. Private clinical neurology practice and genetic diagnosis of ataxias.

    Research Support, Commercial Entities:

    1. Research support from Actelion Pharmaceuticlas, commercial entity. Not related to this study.

    Research Support, Government Entities:

    1. Instituto de Salud carlos III (Spain), grant number PI12/00742

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Asociaci?n Galega de Ataxias (AGA).

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  11. Richard Gibbs, PhD,
    12. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Fusion Conference, NFP

    Editorial Boards:

    1. Genome Research Associates Editors

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NIH/NHGRI - 1UM1HG008898 (PI); U54 HG003273 (PI); R25 HG006674 (PI); 1U01HG008664 (PI); U01HG006485 PJ2 (co investigator); 2 UM1 HG006542 (co-investigator); R01HL078888 (co-investigator); U01HG007942 (co- investigator) NHLBI - HHSN268201500015C (PI); HHSN68201600033I (PI)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  12. James R. Lupski, MD, PhD, DSc,
    13. Scientific Advisory Boards:

    1. Lasergen Inc. Regeneron Pharmaceuticals BioPontis Alliance for Rare Disorders

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. Co-Inventor on Diagnostic

    Publishing Royalties:

    1. Genomic Disorders - The Genomic Basis of Disease. J.R. Lupski and P. Stankiewicz (Eds.) Humana Press, Totowa, N.J. 2006. pp. 1-427

    Employment, Commercial Entity:

    1. Baylor College of Medicine, Professor

    Consultancies:

    1. Regeneron Pharmaceuticals

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NIH/NINDS, R01 NS058529 NIH/NHGRI, UM1 HG006542 NIH/NIGMS, R01 GM 106373

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. Lasergen Inc. 23andMe

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  13. Daniel H. Geschwind, MD, PhD,
    14. Scientific Advisory Boards:

    1. Ovid Therapeutics Inc

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. No speaker bureau

    Editorial Boards:

    1. Cell Editorial board 2014-present Molecular Autism Editorial Board 2013-present Molecular Neuropsychiatry Editorial Board 2014-present Nature Reviewer 2004-present Nature Genetics Reviewer 2002-present Nature Neuroscience Reviewer 2008-present Neurology Reviewer 2003-present Neuron Reviewer 2001-present New England Journal of Medicine Reviewer 2008-present Public Library of Science (PLoS), Genetics Reviewer 2011- present Science Reviewer and Editorial Board 2010-present Translational Psychiatry Editorial Board 2014-present

    Patents:

    1. Peripheral Gene Expression Biomarkers for Autism. Filed May 25, 2005. Genetic Risk Factor for Neurodegenerative Disease. Filed June 30, 2005. Compositions and Methods for Diagnosing and Treating Brain Cancer and Identifying Neural Stem Cells. Filed September 30, 2005. Genetic Variants Underlying Human Cognition: Novel Diagnostic and Therapeutic Targets. Filed November 14, 2008. Peripheral Gene Expression Biomarkers for Autism. Filed May 15, 2009. Brain Gene Expression Changes Associated with Autism Spectrum Disorders. Filed with UCLA Intellectual Property, 2009. Full Biomarkers in Friedreich's Ataxia (provisional patent application). Filed with UCLA Intellectual Property, 2010. Signaling Networks Causing Neurodevelopmental Disorders In Human Neurons. Filed with UCLA Intellectual Property, May 3, 2011. Genes Dysregulated in Autism, Potential Biomarkers and Therapeutic Pathways. Filed with UCLA Intellectual Property, May 19, 2011. Peripheral Gene Expression Biomarkers for Autism. Filed with UCLA Intellectual Property. November 28, 2011. mTor, A Genetic Target for Treatment of Individuals with Neurocognitive Spectrum Disorders. Filed with UCLA Intellectual Property, May 11, 2012. Neuronal Regeneration. Filed with UCLA Intellectual Property, August 15, 2012. Frataxin Knock-Down Mouse. Filed with UCLA Intellectual Property, July 7, 2014. Jakmip1 Knockout Mouse. Filed with UCLA Intellectual Property, June 14, 2016. Cyfip1 Transgenic Mouse. Filed with UCLA Intellectual Property, June 14, 2016.

    Publishing Royalties:

    1. Autism Spectrum Disorders Oxford University Press 2011

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. OVID Therapeutics Ltd

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Takeda Pharmaceutical Company

    Research Support, Government Entities:

    1. (1) NIH/NIMH 9R01 MH100027-06 (Geschwind, PI), 03/25/13- 02/28/18 (2) NIH/NICHD 5P50 HD055784-06 (Geschwind co- Investigator) 09/04/12-05/31/17 (3) NIH/NIMH 5R37 MH060233-11 (Geschwind, PI) 07/10/99- 06/30/15 (4) NIH/NIMH 1R01 MH094714-02 (Geschwind, PI) 09/01/11- 08/31/15 (5) CIRM TR2-01814 (Geschwind co-Investigator, subaward from UCSD) 04/01/11-03/31/14 (6) NIH/NIMH 1R01 MH100028-01 (Geschwind PI of subaward from Yale) 08/01/12-07/31/17 (7) NIH/NINDS 1R01 NS073871-01A1 (Geschwind co- Investigator) 12/01/11-11/30/16 (8) NIH/NIA 5P01 AG019724-08 (Geschwind PI of subaward from UCSF) 09/01/12-8/31/17

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) The Simons Foundation (2) Adelson Medical Research Foundation (3) The Tau consortium

    Stock/Stock Options/Board of Directors Compensation:

    1. Ovid Therapeutics

    License fee payments, Technology or Inventions:

    1. Mouse model of Freidriech Ataxia, licensed by UCLA.

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  14. Susan Perlman, MD,
    15. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. I have been PI on clinical drug trials for the following commercial entities and received compensation only in the form of support for the drug trial activities as specified in the contracts with the University of California, Los Angeles: 1. Erydel for ataxia telangiectasia 2. Reata for Friedreichs ataxia 3. Viropharma/Shire for Friedreichs ataxia 4. Retrotope for Friedreichs ataxia. 5. Edison for Friedreichs ataxia. 6. Teva for Huntington's disease. 7. Pfizer for Huntington's disease. 8. Biohaven for Spinocerebellar ataxia.

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. National Ataxia Foundation for maintenance of the web- based database being used in a different study.

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  15. Jennifer E. Below, PhD and
    16. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Sanofi Innovation Awards Program Whole exome sequencing of Hispanics with extreme (high and low) triglycerides: search for therapeutic targets Role: Co-I 2017

    Research Support, Government Entities:

    1. U24 OD011109 Tulane National Primate Research Center U24 AIDS SPF Breeding Colony Role: PI on subcontract 2017 1R03DC015329-01 NIH/Wayne State University Genetic Study of Stuttering Role: PI on subcontract 2016-2019 2UM1-HG006542-05 NIH/Johns Hopkins University Baylor-Johns Hopkins Center for Mendelian Genetics Role: Co-Investigator 1U01AG049506-02 Sequence-based Discovery of AD Risk & Protective Alleles Alzheimer's disease is a common disease of aging characterized by loss of memory, and Alzheimer's disease clusters in families. This Project seeks to identify genes associated with increased risk of alzheimer's disease or protection from it. This newly discovered genetic information may help to identify novel treatments for this debilitating condition. Role: Co-Investigator 3U01-DK105554-02 NIH/ Broad Institute of MIT Proposal for the AMP T2D-Genes Data Coordinating Center and Web Portal Role: PI on subcontract 2016-2017

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  16. Brent L. Fogel, MD, PhD
    17. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1. American Academy of Neurology, Speaker Honoraria 2. American Physician Institute for Advanced Professional Studies, Travel and Speaker Honoraria 3. National Ataxia Foundation, Travel

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. National Institutes of Health NIH/NINDS 5 R01 NS082094 (PI Fogel) 04/2013 - 03/2018 NIH/NIMH 5 K08 MH086297 (PI Fogel) 07/2009-04/2014

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. National Ataxia Foundation (PI Fogel) 01/2012 - 01/2013, 01/2016-12/2016

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Houston; Fundación Pública Galega de Medicina Xenómica-SERGAS (B.Q., Z.Y., M.J.S.), Instituto de Investigación Sanitaria (IDIS), Santiago de Compostela; Genomic Medicine Group (U711) (B.Q., Z.Y., M.J.S.), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain; Grupo del Investigación en Genética (Z.Y.), Universidad Simón Bolívar, Barranquilla, Colombia; Department of Molecular and Human Genetics (E.B., D.M., R.G., J.R.L.) and Human Genome Center (J.R.L.), Baylor College of Medicine, Houston, TX; and Department of Integrative Biology and Pharmacology (D.A., R.B.), Institute of Molecular Medicine Center for Metabolic and Degenerative Diseases (R.B.), and Cell and Regulatory Biology Program of The University of Texas Graduate School of Biomedical Sciences (R.B.), McGovern Medical School at The University of Texas Health Science Center at Houston.
  1. Correspondence to Dr. Fogel: bfogel{at}ucla.edu
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