“A Close Look At Sanfilippo” is a regular 10-minute podcast covering five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no FDA-approved treatment.
In this episode Glenn O’Neill, president and co-founder of Cure Sanfilippo Foundation, talks about publication of a guide for educators and therapists about the important role they play in supporting neurocognitive function and quality of life in children with neurodegenerative diseases and how they can best serve these children in the educational setting, during normal and extenuating circumstances.
Special guest Dr. Cara O’Neill, Foundation Chief Science Officer and co-founder, joins to talk about publication of Foundation-supported research that found impacting a specific part of the dopamine pathway reverses and rescues some Autism behavior symptoms (such as hyperactivity, repetitive movements, and socialization) in Sanfilippo Syndrome (MPS III) and Hunter’s Syndrome (MPS II). She shares how follow-up research will look to identify specific drugs that will help impact the dopamine pathway, with reduced side effects, as well as investigate how abnormal heparan sulfate impacts growth factor signaling and other factors in Sanfilippo. All with the hope of this research leading to a clinical trial that will improve the quality of life of children with Sanfilippo.
Glenn finishes up talking about Abeona Therapeutics’ encouraging news about MRI imaging data of brain volume in children treated with its gene therapy; the families from around the world reaching out to the Foundation constantly and our gratitude at the ability to provide them with information, support in navigating the landscape, and most importantly … hope; and a resource uniquely for fathers coping and living with a terminal diagnosis of their child
White Paper - Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders: www.CureSFF.org/article3
Read the full open-access academic paper - Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses: www.sciencedirect.com/science...
Abeona Therapeutics Press Release: investors.abeonatherapeutics....
Courageous Parents Network’s “Being The Dad” recording: courageousparentsnetwork.org/...
Questions: Contact@CureSanfilippoFoundation.org
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Music credit: Springish by Gillicuddy (www.freemusicarchive.org/musi...)
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22 авг 2021
