Skip to main content
Home

Navigation controls

  • Search
  • Menu
September 9 – 12, 2025 | NIH Main Bethesda, Campus

Social

  • Twitter
  • Facebook
  • Email

Current Research Festival

  • 2025
  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
    • Green Labs Fair
    • Research Festival Committee
  • 2023
    • General Schedule of Events
    • NIH Early–Career Investigator Lectures
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • Vendor Exhibit Information
    • Research Festival Committee
  • 2021
  • 2019
    • General Schedule of Events
    • Plenary Sessions
    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committee
  • 2018
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2017
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2016
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Tours of the National Library of Medicine and Clinical Center
    • Research Festival Committees
  • 2015
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Workshop Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • TSA Research Festival Exhibit Show
    • NIH Tours
    • Research Festival Committees
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
  • 2006
  • 2005
  • 2004
  • 2003
  • 2002
  • 2001
  • 2000

Main navigation

  • All Research Festivals
    • 2025
    • 2024
    • 2023
    • 2021
    • 2019
    • 2018
    • 2017
    • 2016
    • 2015
    • 2014
    • 2013
    • 2012
    • 2011
    • 2010
    • 2009
    • 2008
    • 2007
    • 2006
    • 2005
    • 2004
    • 2003
    • 2002
    • 2001
    • 2000

NIH Research Festival

September 12 – 14, 2018

The use of genetic engineering in human embryonic stem cells to develop a model system to investigate neuropathic pain in Fabry Disease

Thursday, September 13, 2018 – Poster Session IV
3:30 – 5:00 p.m.

FAES Terrace

NINDS

STEMCELL-3

Authors

  • CR Kaneski
  • JA Hanover
  • UH Schueler

Abstract

Fabry disease is a glycosphingolipid storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (AGA) which results in the storage of Gb3 (globotriaosylceramide). This buildup of Gb3 leads to a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of the hallmarks of this disorder is neuropathic pain in hands and feet and nervous dysfunction. To better understand this complex phenotype, we sought to generate a human neuronal cell line lacking in AGA. We transfected the human embryonic stem cell line WA-14 with two different short-hairpin RNA plasmids against AGA message, and selected stable transformants with puromycin. We demonstrated that these cell lines have severely reduced AGA activity and decreased breakdown of Gb3 that is characteristic of the Fabry phenotype. In addition, they retained all markers of pluripotency tested. Using dual-SMAD inhibition, we showed our genetically engineered stem cells could be differentiated to peripheral neurons, confirmed by b-tubulin and peripherin immunostaining. In addition, the differentiated cells were positive by immunostaining for the pain receptors TRPV-1 and NAV-1.7. Our human stem cell model can now be used to study the mechanisms of pain in Fabry patients and could be used for screening of potential treatments.

Scientific Focus Area: Stem Cell Biology

This page was last updated on Friday, March 26, 2021

  • General Schedule of Events
  • Plenary Sessions
  • Concurrent Symposia Sessions
  • Poster Sessions
  • FARE Award Ceremony
  • Special Exhibits on Resources for Intramural Research
  • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
  • Research Festival Committees

2018 program

Download the 2018 Research Festival Schedule Overview (6 pages)

  • Email
  • Print
  • Share Twitter Facebook LinkedIn

Current Research Festival

  • 2025
  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
    • Green Labs Fair
    • Research Festival Committee
  • 2023
    • General Schedule of Events
    • NIH Early–Career Investigator Lectures
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • Vendor Exhibit Information
    • Research Festival Committee
  • 2021
  • 2019
    • General Schedule of Events
    • Plenary Sessions
    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committee
  • 2018
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2017
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2016
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Tours of the National Library of Medicine and Clinical Center
    • Research Festival Committees
  • 2015
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Workshop Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • TSA Research Festival Exhibit Show
    • NIH Tours
    • Research Festival Committees
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
  • 2006
  • 2005
  • 2004
  • 2003
  • 2002
  • 2001
  • 2000

Main navigation

  • All Research Festivals
    • 2025
    • 2024
    • 2023
    • 2021
    • 2019
    • 2018
    • 2017
    • 2016
    • 2015
    • 2014
    • 2013
    • 2012
    • 2011
    • 2010
    • 2009
    • 2008
    • 2007
    • 2006
    • 2005
    • 2004
    • 2003
    • 2002
    • 2001
    • 2000
  • Department of Health and Human Services
  • National Institutes of Health
  • USA.gov

Footer

  • Home
  • Contact Us
  • IRP
  • HHS Vulnerability Disclosure
  • Web Policies and Notices
  • Site Map
  • Search