“We’re joining forces and unifying the effort!
The DLG4 Research Fund and the SHINE Syndrome Foundation have agreed to come together under the SHINE Syndrome Foundation umbrella.
The new board will consist of:
Marie-France Gervais – Co-President
Timothy Stuart – Co-President
Justin Neduchal – Vice President and Ethics Officer
Payal Patel – Vice President of Development
Courtney Roche – Secretary
Melanie – Treasurer
Laura Palmer – Chair Person Emeritus and Board Member at Large
Sabrina Merchant – Director of Science and Clinical Programs
Courtney Thomson – Director of Patient and Family Engagement
We are actively working on combining assets and doing our due diligence to best leverage our respective successes and working relationships. “
Who are we?
Our mission is to improve the lives of individuals with DLG4 Synaptopathy by supporting research, developing treatments and therapies, and providing a community of support. We understand the challenges that families face when dealing with this rare disease, and we are committed to making a difference. By collaborating with researchers, healthcare professionals, and other organizations, we aim to accelerate medical advances focused on the treatment and cure of DLG4 Synaptopathy. Join us in our mission to create a brighter future for those affected by this disease by volunteering, donating, or spreading awareness.
What is DLG4-related Synaptopathy?
A Synaptopathy is a disease of the brain that relates to the dysfunction of synapses. DLG4 stands for Discs Large MAGUK Scaffold Protein 4, and is mapped to the 17th chromosome.
A diagnosis for mutations located on the DLG4 gene, also known as variants, leads to preventing protein expression from this mutated allele. The protein impacted by DLG4 mutations is called PSD-95 or postsynaptic density 95. The majority of the DLG4 variants are predicted to be protein-truncating and hereby loss of function variants, indicating a cause–effect relationship between PSD-95 haploinsufficiency and the disease.
In other words the shortage of this protein is associated with the symptoms of this disease.
Individuals with mutations affecting DLG4 usually present early onset of global developmental delay, intellectual disabilities, autism spectrum disorder, hypotonia, epilepsy, ADHD, anxiety and sleep disturbances.
Alterations in the expression of the PSD-95 protein have also been linked to autism spectrum disorder, schizophrenia, and Alzheimer’s disease.
Presently there are less than hundred patients with this diagnosis but it is possible that hundreds if not thousands exist around the world but remain undiagnosed due to economic barriers.
Mission
- Increasing awareness of DLG4 variants
- Fund and drive research to accelerate discovery of a cure
- Supporting individuals and families affected by DLG4 variants
- Provide families with tools to help them understand the disease & how to get involved
- Foster activism to help change policies in favor of orphaned diseases
- Improve the lives of our DLG4 Family
Values
FAMILY: Children and adults diagnosed with DLG4 related Synaptopathy and their families are at heart of everything that we do; they always come first.
IMPACT: We believe that the fight to end DLG4 related Synaptopathy requires a broad approach that combines advocacy, education, and research, to help us understand, treat, and ultimately find a cure.
OPTIMISM: We see many reasons for hope — from the development of more advanced and earlier genetic testing to greater awareness; from the evolving interest of researchers and medical professionals to the passion of our parent community. We have the opportunity to change the outcomes of these brave warriors by funding cutting edge research that provides better treatment options. Research is expensive and we are dedicated to finding a cure.
KNOWLEDGE: We believe that knowledge is power — whether it’s researchers seeking new and improved methods of treatment, health care professionals looking to give the best possible care, parents who just want to provide a better quality of life to their child, or the DLG4 patients who long to end the effects of DLG4 related Synaptopathy and gain a voice.
DETERMINATION: We will not end our fight until every person diagnosed with DLG4 related Synaptopathy is able to live daily without the devastating effects of the disorder.