Learn more about this rare disease, how it affects our families, and how we're helping to find treatment.
The DLG4 SHINE Story
We are a small non-profit whose central goal is to support the research and development of treatments for DLG4-related Synaptopathy. We understand the challenges that families face when dealing with this rare disease because we are DLG4 SHINE families too 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 of DLG4-related Synaptopathy. In just a few short years, our organization and understanding of DLG4 SHINE have grown tremendously. Scroll through our timeline below to gain a better understanding about who we are and what we are doing to grow our community and ignite research for our loved ones.
DLG4 Gene Mutations Confirmed To Be Disease Causing
In 2019, when DLG4 gene mutations were confirmed to be disease causing and diagnoses started to slowly grow, a small group of parents who had found each other created a private Facebook group. Within a year, more than fifteen families from around the world had joined.
Disease Named
In 2021, the first article Describing the disorder was published and the authors gave it the Scientific name of DLG4-related synaptopathy. A couple of involved Moms thought a better name was needed for the patient community and they developed the name SHINE Syndrome, an acronym of some of the main symptoms of the disorder.
SHINE Syndrome Foundation Formed
A few months later, a small group of parents joined them in the endeavour to start a patient advocacy group and in December 2021 the SHINE Syndrome Foundation was born.
Second Patient Advocacy Group Created
In fall 2022, a second patient advocacy group called the DLG4 Research Fund was created by a Mom on a mission.
Foundations Merged
By the end of 2023, the two foundations agreed working together rather than in parallel would yield better results and be best for the patient community and in February 2024, they joined forces and combined assets under the SHINE Syndrome Foundation name.
Rebrand Initiated
A few successful years of advocacy and research efforts, the fast increasing number of diagnosed patients, and the lucky addition to the board of a Mom with marketing expertise brought up the need to rebrand in order to professionalize and grow the foundation further.
Foundation Name Reconsidered
The realization that a few foundations and even disorders already use the name “Shine” combined with a need to add scientific clarity drove us to rename the foundation DLG4 SHINE Foundation. This new name provides both the disease-causing genetic information as well as the symptom-driven acronym, thus adding a scientific side while honouring the patient-centered and community chosen name.
New Logo Revealed
The original logo for the disorder was created by a family member of a patient who chose meaningful colours associated with symptoms and the use of stars to recall the word SHINE. In the same effort to add scientific clarity while staying true to its origins, the new logo keeps the colours scheme and integrates a strand of DNA on which a star sits at the level of the 17th chromosome.
Our Mission
Our mission is to improve the quality of life for children and families impacted by DLG4 SHINE through supporting collaborative research among international medical professionals, nurturing a family community, and raising worldwide awareness.
Our Vision
DLG4 SHINE Foundation’s vision is a future where patients have access to treatments, information, and a global community to share in their journey. With the help of research funding and efforts to raise awareness, we can find the answers to the questions so many DLG4 SHINE families are trying to answer!
Our Goals
We want to advocate, educate and be heralders of this syndrome by creating awareness and identifying new patients to build and strengthen our community.
We aspire to build a biobank or repository for iPsc Cell Lines with various variants. We also wish to invest in a custom mouse or/and zebrafish.
We desire to fund Preclinical research to study disease and disease mechanisms. Discovery of therapeutic approaches such as drug repurposing, gene therapy, ASO’s (Antisense Oligonucleotides) and development of small molecule drugs.
We will work towards the collection of patient data through natural history studies. Natural History studies help researchers in understanding how variants are expressed differently in each patient. This knowledge aids in the development of new drugs.
We want to provide resources to facilitate collaboration to expedite the process to treatment. We are working hard to encourage collaboration among these groups can often result in efficiencies by preventing duplication of efforts.
Clinical trials for the treatment of rare diseases are expensive and essential. We want to be ready to support research organizations in their effort to evaluate the safety and preliminary effectiveness of a treatment and the amount of the medication needed in a small group of patients. If preliminary trials show viability we want to be ready to fund Phase II clinical trials which include a larger group of patients to further establish the effectiveness and safety of the drug. FDA & EMA reviews findings from research and clinical trials to approve treatment.
Learn More About DLG4 SHINE
How Donations Are Used
Rare diseases are majorly under funded and most fundraising for grants and research studies are supported directly by the families and loved ones of those who are impacted.
Types of Research
Teams of doctors and researchers from around the world are currently studying gene therapy, iPSC line development, and natural history to identify possible treatments for DLG4 Synaptopathy.