Boston Area Family Hopes to Find Cure for Daughter's Rare Disease

Angel donor steps up to match $100,000 in research donations
By: Cure SPG47
 
 
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BOSTON - Dec. 20, 2017 - PRLog -- Contact: Kasey Edwards
Phone:    781-405-8961
Email:     kasey.edwards@hotmail.com

Two Families Join Forces to Fight an Extremely Rare Disease; "Angel Donor" Steps Up to Match $100,000 of Research Donations

Boston, M
A - One year ago, two toddler girls, Robbie Edwards and Molly Duffy, met in person at Boston Children's Hospital as their families discovered their girls both shared an ultra-rare neurodegenerative disease, SPG47.  The families met through an online forum while researching the disease.  No one could have predicted the incredible impact of this in person meeting.  Realizing there was non-existent research on this new genetic disorder, parents Chris and Kasey Edwards and Kevin and Angela Duffy founded a non-profit, Cure SPG47 (http://www.curespg47.org) to initiate and fund research towards stopping or slowing the progression of this devastating disease.

This holiday season, Cure SPG47 has been granted an incredible opportunity by a generous anonymous "Angel" donor to match donations made up to $100.000 total by January 31, 2018.  This will significantly impact the research-taking place at Boston Children's Hospital and the University of Sheffield.  A minimum of $3 million dollars is needed to fund these research studies; therefore achieving the "Angel" donor match will help the preliminary proof-of-concept research, which could lead to outside grant funding towards human clinical trials. The families have set-up a donation page "Turning $100,000 into $200,000" at https://www.gofundme.com/DoubletheGood.

About SPG47

SPG47 is a type of rare genetic disorder that resembles cerebral palsy. There are approximately 11 cases globally.  It's part of a group of disorders known as hereditary spastic paraplegia (HSP) and is sometimes called HSP type 47. As babies, children with SPG47 have very low muscle tone (hypotonia (http://www.childrenshospital.org/conditions-and-treatment...)). Children with SPG47 have delays with walking and speech, and may have intellectual disabilities. As the children grow, their muscles become stiff, they can lose the ability to walk on their own, and loss of verbal communication.

About CureSPG47

As Cure SPG47's first year comes to a close, the group has successfully given seed money to two promising treatment avenues: gene therapy research, proposed by Mimoun Azzouz, PhD, Director of Research and Innovation at the University of Sheffield, England, and research using induced pluripotent stem cells (ipsc) led by  Darius Ebrahimi-Fakhari, MD, in the Sahin lab at Boston Children's Hospital. The ipsc study involves testing existing FDA approved drug compounds to determine if they positively influence the effects of the mutated gene responsible for the disease.  A scientific team composed of some of the best minds in the fields of neurology, translational neuroscience, cell biology, gene therapy and clinical drug development, met at Boston Children's Hospital last March to finalize the research focus for the disease.  Since CureSPG47 launched in November 2016, six new children have been diagnosed this year.

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Tags:Rare Disease, cure SPG47
Industry:Non-profit
Location:Boston - Massachusetts - United States
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Page Updated Last on: Dec 20, 2017



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