Group created on Apr 15, 2023
DLG4-SHINE Canada
Giving Group Ottawa, ON
Join to post in the group and receive group messages.
Raised towards giving goal
$9,155.00
of $10,000.00 goal
Last gift received on Jan 28, 2025
Highlights
$9,155.00
Total raised since group was created
$0.00
Total given to charities, Campaigns, or other Givings Groups
$9,155.00
Money currently available to give from this group
This Giving Group supports...
This group has not yet chosen a Campaign or charity to support.
Group Admins
Raising funds to develop treatment options, further research, and improve patient care for families living with SHINE Syndrome (DLG4-related synaptopathy).
OUR CURRENT FOCUS
A CUTTING EDGE TREATMENT OPTION: We are currently fundraising towards the development of an AAV vector. Essentially, an AAV is a flu/cold virus that is modified to remove any harmful effect and used as a vehicle to deliver a healthy copy of the DLG4 gene to target cells. In the case of DLG4 and SHINE Syndrome, the ultimate aim is to compensate for the mutation in the DLG4 gene and restore PSD-95 protein production to normal levels in order to alleviate the symptoms. For current individuals living with SHINE Syndrome, this could improve their symptoms and their quality of life and be life changing for them and their families. For future generations, this could be a cure!
We are also in the planning stages of a drug repurposing screen, probably with the Broad Institute (a leader in the field). This strategy consists of testing a large amount existing drugs approved for use in humans for various conditions to see if they improve production of the protein or brain activity in general.
WHO WE ARE
Marie-France Gervais is first and foremost the mother of Cédric, an awesome Dude who was born in Timmins, Ontario, and now lives in Ottawa with his mom and his dad Dave. Cédric has a genetic rare disease (a deletion on his DLG4 gene, on chromosome 17) called DLG4-related synaptopathy aka SHINE Syndrome. SHINE Syndrome is very rare and very recently discovered. Inspired by Cédric’s journey and his courage, Marie-France joined a group of parents to form the SHINE Syndrome Foundation in late 2021 (a US registered non-profit) and has recently become co president of the organization. She created DLG4-SHINE Canada to be the sister arm of the SHINE Syndrome Foundation. Visit dlg4shine.ca to find out more.
ABOUT SHINE SYNDROME
SHINE Syndrome, also known as DLG4-related synaptopathy, is an extremely rare neurodevelopmental disorder characterized predominantly by global developmental delay/intellectual disability of varying severity, neurological disorders/autism spectrum disorder, attention deficit hyperactivity disorder, hypotonia, and epilepsy. Many individuals with SHINE syndrome also present with sleep disturbances, skeletal (bone) abnormalities, and/or structural brain abnormalities (seen on an MRI). The DLG4 gene is responsible for the production of the PSD-95 protein, a very important protein for synaptic strength and plasticity. You can read more about it at shinesyndrome.org
WHY WE EXIST
While the advocacy efforts for SHINE Syndrome are better served by an international effort, we want to ensure that the needs and best interest of the Canadian patients and their families are taken into account and met. We also know that Canadians are incredibly generous and wanted to make sure that their support was rewarded by providing tax receipts for their donations. To make donations easier for Canadians and Canadian companies, we created this Giving Group which allows us to securely collect your donations, immediately provide you with a tax receipt for any donation of $5 or more, and donate the money to the universities involved in research on DLG4, PSD-95, or SHINE Syndrome.
Raised towards giving goal
$9,155.00
of $10,000.00 goal
Last gift received on Jan 28, 2025
Highlights
Group created on Apr 15, 2023
$9,155.00
Total raised since group was created
$0.00
Total given to charities, Campaigns, or other Givings Groups
$9,155.00
Money currently available to give from this group
This Giving Group supports...
This group has not yet chosen a Campaign or charity to support.
DLG4-SHINE Canada
Giving Group Ottawa, ON
Join to post in the group and receive group messages.
Group Admins
Raising funds to develop treatment options, further research, and improve patient care for families living with SHINE Syndrome (DLG4-related synaptopathy).
OUR CURRENT FOCUS
A CUTTING EDGE TREATMENT OPTION: We are currently fundraising towards the development of an AAV vector. Essentially, an AAV is a flu/cold virus that is modified to remove any harmful effect and used as a vehicle to deliver a healthy copy of the DLG4 gene to target cells. In the case of DLG4 and SHINE Syndrome, the ultimate aim is to compensate for the mutation in the DLG4 gene and restore PSD-95 protein production to normal levels in order to alleviate the symptoms. For current individuals living with SHINE Syndrome, this could improve their symptoms and their quality of life and be life changing for them and their families. For future generations, this could be a cure!
We are also in the planning stages of a drug repurposing screen, probably with the Broad Institute (a leader in the field). This strategy consists of testing a large amount existing drugs approved for use in humans for various conditions to see if they improve production of the protein or brain activity in general.
WHO WE ARE
Marie-France Gervais is first and foremost the mother of Cédric, an awesome Dude who was born in Timmins, Ontario, and now lives in Ottawa with his mom and his dad Dave. Cédric has a genetic rare disease (a deletion on his DLG4 gene, on chromosome 17) called DLG4-related synaptopathy aka SHINE Syndrome. SHINE Syndrome is very rare and very recently discovered. Inspired by Cédric’s journey and his courage, Marie-France joined a group of parents to form the SHINE Syndrome Foundation in late 2021 (a US registered non-profit) and has recently become co president of the organization. She created DLG4-SHINE Canada to be the sister arm of the SHINE Syndrome Foundation. Visit dlg4shine.ca to find out more.
ABOUT SHINE SYNDROME
SHINE Syndrome, also known as DLG4-related synaptopathy, is an extremely rare neurodevelopmental disorder characterized predominantly by global developmental delay/intellectual disability of varying severity, neurological disorders/autism spectrum disorder, attention deficit hyperactivity disorder, hypotonia, and epilepsy. Many individuals with SHINE syndrome also present with sleep disturbances, skeletal (bone) abnormalities, and/or structural brain abnormalities (seen on an MRI). The DLG4 gene is responsible for the production of the PSD-95 protein, a very important protein for synaptic strength and plasticity. You can read more about it at shinesyndrome.org
WHY WE EXIST
While the advocacy efforts for SHINE Syndrome are better served by an international effort, we want to ensure that the needs and best interest of the Canadian patients and their families are taken into account and met. We also know that Canadians are incredibly generous and wanted to make sure that their support was rewarded by providing tax receipts for their donations. To make donations easier for Canadians and Canadian companies, we created this Giving Group which allows us to securely collect your donations, immediately provide you with a tax receipt for any donation of $5 or more, and donate the money to the universities involved in research on DLG4, PSD-95, or SHINE Syndrome.
Raised towards giving goal
$9,155.00
of $10,000.00 goal
Last gift received on Jan 28, 2025
Highlights
Group created on Apr 15, 2023
$9,155.00
Total raised since group was created
$0.00
Total given to charities, Campaigns, or other Givings Groups
$9,155.00
Money currently available to give from this group
This Giving Group supports...
This group has not yet chosen a Campaign or charity to support.