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checkrare.bsky.social
💡Rare Disease Spotlight: Sanfilippo Syndrome Type A

Learn more about this rare disease with our latest article checkrare.com/gene-therapy...

#CheckRare #RareDisease #MPSIIIA #RareNeurology
March 4, 2025 at 11:17 PM
ertrunnell.bsky.social
The authors wrote that their findings “underscore the value of human neuronal systems” and validate human in vitro systems like these in drug discovery for Sanfilippo syndrome and related brain disorders.

Read in @natcomms.nature.com:
www.nature.com/articles/s41...
Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks - Nature Communications
Here authors show in a human stem cell–derived model, neural cultures from children with MPSIIIA exhibit hyperactive excitatory synapses associated with excitation–inhibition imbalance, altered networ...
www.nature.com
May 14, 2026 at 2:03 PM
insight.jci.org
The gastrointestinal symptoms that impair quality of life in childhood neurodegenerative disorders may be because bowel enteric neurons are also affected.

In this Research Letter, Ziółkowska et al. characterize enteric pathology in MPSIIIA mice: doi.org/10.1172/jci....
@pattidickson.bsky.social
September 15, 2026 at 2:03 PM
moltherapy.bsky.social
Human iPSC-derived neural progenitor gene therapy improves outcomes in a neuropathic lysosomal disease
Intracranial delivery of iPSC-derived neural stem cells overexpressing SGSH restored brain enzyme activity and memory, while reducing glycosaminoglycan accumulation and neuroinflammation in an immunodeficient MPSIIIA mouse model. These findings support a promising cell-based therapeutic strategy for treating MPSIIIA and related lysosomal storage disorders.
dlvr.it
August 10, 2026 at 12:05 PM
epsteinweb.bsky.social
EFTA01110711.jpg
#epsteinweb #efta01110711
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EFTA01110707 | EFTA01110711 LEONE, Paola SCIENTIFIC ADVISORY BOARD MEMBER National Tay Sachs and Allied Disorders, USA Late Onset Tay-Sachs Foundation, PA, USA Canavan Research. IL, USA Jacob's Cure, NY USA Canavan Research Foundation, CT Canavan Foundation, NY, NY Partnership for Cures, IL, USA Giant Axonal Neuropathy Foundation, NY National Organization of Rare Disease SERVICE ON MAJOR COMMITTEES: International Therapy for MPSIIIA, France, 2009 Gene Therapy for MPSIIIA, France, 2010 Gene Therapy for MPSIIIA & MPSIIIB, France, 2010 National Duchenne Muscular Dystrophy Grants, MVP, 2005 Search Committee for the Director of the Coriell Institute, 2005 Data Safety Monitor Board- Gene Therapy for Duchenne Muscular, 2006 Dystrophy Phase I Protocol NIH Study Section- Inborn Errors Of Metabolism, 2007 Duchenne Muscular Dystrophy Grants, 2009 Partnership For Cures, 2009 Medical School/University Search Committee for Associate Dean of Research - UMDNJ-RWJMS 2005 Research Committee, UMDNJ-SOM, 2008 Research Committee, UMDNJ-SOM, 2009 Research Committee, UMDNJ-SOM, 2010 Faculty Affairs Committee. UMDNJ-SOM2011 The American Osteopathic Association Commission on Osteopathic College Accreditation 2012 Faculty Affairs Committee, UMDNJ-SOM 2012 Faculty Affairs Committee, UMDNJ-SOM 2013 Department (Name, Inclusive Dates) 1ST Committee, UMDNJ-SOM Cell Biology, 2008 Executive Committee, UMDNJ-SOM Cell Biology, 2008 1ST Committee, UMDNJ-SOM Cell Biology, 2009 Executive Committee, UMDNJ-SOM Cell Biology, 2009 Research Committee, UMDNJ-SOM Cell Biology, 2010 1ST Committee, UMDNJ-SOM Cell Biology, 2010 Executive Committee, UMDNJ-SOM Cell Biology, 2010 1ST Committee, UMDNJ-SOM Cell Biology, 2011 Executive Committee, UMDNJ-SOM Cell Biology, 2011 5 of 22 EFTA01110711
May 9, 2026 at 7:15 PM
epsteinweb.bsky.social
Parts 1-2/2 — EFTA01110710.jpg
#epsteinweb #efta01110710
https://epsteinweb.org
Available in the iOS app store now!
https://apps.apple.com/us/app/epstein-web/id6758880661
EFTA01110707 | EFTA01110710 LEONE, Paola HONORS/AWARDS: 1999 2003 2006 2009 2010 2011 2012 2012 2013 2013 UNESCO Award, Career Achievement Award, Italy Canavan Research Illinois, Best Scientist of the Year Award, USA Woman of the Year, Lions Club, Italy Foundation of UMDNJ's Excellence in Research Award, USA Canavan Research Illinois, Scientific Achievement Award, USA International Rare Disease Day, Hall Of Fame International Rare Disease Day, Hall Of Fame Edward J. III Medical Foundation Award in Biomedical Research, USA International Rare Disease Day, Hall Of Fame American Academy of Neurology — NeuroFilm Festival 3m Prize COMMITTEE MEMBER 2002 2003 2003 2003 2004 2005 2005 2005 2005 2005 2006 2007 2008 2008 2008 2009 2009 2009 2009 2009 2010 2010 2010-2014 Judging Committee for Resident's Research, Cooper Health System Research Oversight Committee, Cooper Health System, Camden, NJ Search Committee for Neurosurgery Associates and Chief, Cooper Health System, Camden, NJ Judging Committee for Resident's Research, Cooper Health System Judging Committee for Resident's Research, Cooper Health System Search Committee for the Director of the Coriell Institute, Camden, NJ Search Committee for Associate Research Dean, UMDNJ, Camden, NJ Reviewer, Duchenne Muscular Dystrophy Grants, MVP, Tucson, AZ Member, Research Oversight Committee, Cooper University Hospital, NJ Judging Committee for Resident's Research, Cooper Health System, NJ Chair of Data Safety Monitor Board, Gene Therapy for Duchenne Muscular Dystrophy Phase I Protocol, Columbus, OH NIH Study Section, Inborn Errors Of Metabolism, Bethesda, MD Executive Committee, UMDNJ-SOM, Stratford, NJ Recruitment Committee, UMDNJ-SOM, Stratford, NJ Research Committee, UMDNJ-SOM, Stratford, NJ 1ST Committee, UMDNJ-SOM, Stratford, NJ Reviewer, Duchenne Muscular Dystrophy Grants, MVP, Tucson, AZ Scientific Committee / Reviewer, Gene Therapy for MPSIIIA, France Scientific Committee / Reviewer, Partnership For Cures, Chicago, IL Executive Committee, UMDNJ-SOM, Stratford, NJ Scientific Committee / Reviewer, Gene Therapy for MPSII IA, France Scientific Committee / Reviewer, Gene Therapy for MPSIIIA & MPSIIIB, France NIH-Data Safety Monitoring Board, Gene Therapy for Batten Disease, New York, NY 4 of 22 EFTA01110710 Epstein Web iOS app on the App Store.
May 9, 2026 at 7:15 PM
behavioralhealth.bsky.social
News From The Journal Of Clinical Investigation: June 3, 2013 #neurology

medicalnewstoday.com/releases/26138…
News From The Journal Of Clinical Investigation: June 3, 2013
A potential gene therapy for Mucopolysaccharidosis Type IIIAMucopolysaccharidosis Type IIIA (MPSIIIA) is a metabolic disorder in which the body is missing an enzyme that is...
t.co
December 9, 2024 at 1:44 PM
drtimos.bsky.social
Thoughts on this? >> Ultragenyx’s MPSIIIA Gene Therapy UX111 Met With CRL -
CGTLive® >> Comment below! #strategy #competitiveintelligence #marketing #pharma #biotech #competitivemarketing #pharmaceutical #healthcare
Ultragenyx’s MPSIIIA Gene Therapy UX111 Met With CRL - CGTLive®
Ultragenyx’s MPSIIIA Gene Therapy UX111 Met With CRL  CGTLive®
dlvr.it
July 15, 2025 at 2:30 AM