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September 21, 2021; 97 (12) Resident & Fellow SectionOpen Access

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly

Hebah Qashqari, Arun Ramani, Hernan Gonorazky, Kimberly Amburgey, Mohammad M. Ghahramani Seno, Michael Brudno, Sergey Naumenko, Soma Das, James J. Dowling
First published May 20, 2021, DOI: https://doi.org/10.1212/WNL.0000000000012265
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Article Information

vol. 97 no. 12 e1253-e1256
DOI: 
https://doi.org/10.1212/WNL.0000000000012265
PubMed: 
34016710
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • First Published May 20, 2021.

Article Versions

Copyright & Usage: 
Copyright © 2021 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. Hebah Qashqari, MBBS, FRCPC,
    2. Arun Ramani, PhD,
    3. Hernan Gonorazky, MD,
    4. Kimberly Amburgey, MSc,
    5. Mohammad M. Ghahramani Seno, DVM, PhD,
    6. Michael Brudno, PhD,
    7. Sergey Naumenko, PhD,
    8. Soma Das, PhD and
    9. James J. Dowling, MD, PhD
  1. Hebah Qashqari, MBBS, FRCPC,
    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. Arun Ramani, PhD,
    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. Hernan Gonorazky, MD,
    4. Scientific Advisory Boards:

    1. Roche, Novartis and Biogen

    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. Kimberly Amburgey, MSc,
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Novartis, speaker honoraria (October 2020)

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Deep Genomics, clinical research program manager, 1.5 years

    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

  5. Mohammad M. Ghahramani Seno, DVM, 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. Michael Brudno, PhD,
    7. Scientific Advisory Boards:

    1. (1)RI-McGill University Health Centre Scientific Advisory Committee(one time honorarium)

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Genome Research, Member of The Editorial Board(2010- present)

    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)CANARIE RDM Funding Program, PI, 2 years (2) Genome Canada, Co-I, 3 years (3)Genome Canada, Co-PI, 3 years (4) CIHR, Co-PI, 4 years (5) Genome Canada LSARP, Co-I, 4 years (6) Genome Canada Co-I, 5 years

    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. Sergey Naumenko, PhD,
    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. 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

  8. Soma Das, PhD and
    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. NIH/NHGRI, 2 U41 HG006834-04, 09/23/13 – 07/31/21, “Clinical Genome Resource”, Soma Das, Ph.D., Co-Investigator (10% effort); H. Rehm, PhD., Principal Investigator, Annual direct cost: $1,803,751

    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

  9. James J. Dowling, MD, PhD
    10. Scientific Advisory Boards:

    1. (1) scientific advisory board member, RYR1 Foundation (yearly honorarium of $500 USD) (2) steering committee, MTM/CNM patient registry (3) executive board, World Muscle Society (4) scientific advisory board member, Dynacure (yearly honorarium of $500 Euros) (5) medical advisory board, Muscular Dystrophy Canada (6) executive board, TREAT NMD

    Gifts:

    1. (1) donation to SickKids foundation, Where There's a Will Foundation (2) donation to SickKids Foundation, Joshua Frase Foundation (3) donation to SickKids Foundation, Robbins Family Fund

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1)Muscle and Nerve, editorial board member, 2016-present (2)PLoS Currents: Muscular Dystrophy, editorial board member, 2012-present (3) Journal of Neuromuscular Diseases, associate editor, 2014-present (4)Neuromuscular Disorders, editorial board member, 2016- present (5) Disease Models and Mechanisms, editorial board member, 2015-present

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Occasional consultant, Guidepoint Global Advisors Occasional consultant, GLG group ad hoc medical consultant, DeepGenomics ad hoc medical consultant, Kate Therapeutics

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Valerion Therapeutics - grant in aid for natural history (completed 2018) (2) Audentes Therapeutics - support for industry sponsored clinical trial (support covering trial site expenses) (3) Audentes Therapeuitcs - grant-in-aid (2020-2022)

    Research Support, Government Entities:

    1. (1) CIHR 376691 PI 5 years (2) CIHR 363863 PI 5 years (3) CIHR 370710 PI 2 years (4) NSERC 5 years (5) Genome Canada DIG grant 9404 PI 2 years (6) NIH 1R21AR074006 2 years (7) NIH R01AR078000 5 years (8) NIH R01AR076227 5 years

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Muscular Dystrophy Association (MDA 186999 and MDA380397) (2) Myotubular Trust (operating grant) (3) Genome Canada (4) A Foundation Building Strength (5) Muscular Dystrophy Canada Stock/Stock Options, Medical Equipment & Materials: (1) DeepGenomics, 2019-2020

    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. (1) expert legal consultation for defense, California (2021)

  1. From the Division of Neurology, Department of Pediatrics (H.Q., H.G., K.A., J.J.D.), Centre for Computational Medicine (A.R., M.B.), and Program of Genetic and Genome Biology (H.G., K.A., M.M.G.S., M.B., J.J.D.), the Hospital for Sick Children, and Department of Pediatrics (J.J.D.), Department of Molecular Genetics (J.J.D.), and Research Department of Computer Science (M.B.), University of Toronto, Canada; Department of Biostatistics (S.N.), Harvard Chan School of Public Health, Boston, MA; Department of Human Genetics (S.D.), University of Chicago, IL; and Techna Institute (M.B.), University Health Network, Toronto, Canada.
  1. Correspondence
    Dr. Dowling James.Dowling{at}sickkids.ca
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