For #RareDiseaseDay 2022, SynGAP Research Fund (SRF) announces a partnership with Probably Genetic to find more patients -- the campaign is called #CouldItBeSYNGAP1. The partners have developed a pre-screening tool to provide undiagnosed patients and families a pathway towards a potential SYNGAP1 diagnosis. Through this survey, caregivers can more effectively determine whether genetic testing is an appropriate next step. Access it at syngap.fund/maybe.
Probably Genetic CEO Lukas Lange says, “We are incredibly excited to partner with SRF on this important initiative. Mike and the entire SRF team are doing an incredible job galvanizing the patient and biotech community to advance treatment development for SYNGAP1. A crucial step for the successful development and launch of any medication is finding enough patients affected by the target condition. You can't get treated if you don't know what you have. The phenotyping algorithm we are developing with the SRF will serve as an important tool to screen potentially undiagnosed patients. In the future, we will be able to select undiagnosed patients identified by the symptom checker for genetic testing. It is an exciting time to support the SYNGAP1 community and we are proud to be a part of it."
The free online survey takes only minutes to complete and screens for symptoms and existing diagnoses such as autism and epilepsy. Respondents who meet carefully developed criteria will be contacted by a member of the SRF Patient Outreach and Support Team, who will then direct them to genetic testing resources.
Corey Baysden, SRF Director for Patient Relations and Data says, “One of our goals is to utilize new and upcoming technology to drive research and find new patients. We have already deployed this survey in multiple parent groups and social media pages, as well as via search engine marketing.”
Patient privacy and confidentiality is important and will be protected. Neither SRF nor Probably Genetic will share or sell any identifiable information to any third parties. Participants provide permission to be contacted by SRF directly for the sole purpose of further guidance in pursuing genetic testing for SYNGAP1 should survey results suggest that this is appropriate.
Despite continued steady growth in the number of patients diagnosed with SYNGAP1 worldwide, many more undiagnosed patients are without answers, and caregivers are unaware that the answer may be genetic. Based on all existing cohort studies and predicted incidence, SRF is certain that SYNGAP1 is radically underdiagnosed. Undiagnosed families are unable to participate in a robust community, appropriately advocate for their loved ones, or benefit from future advances in research towards precision medicines.
SRF Managing Director Mike Graglia says, “We know there are so many patients out there who have too broad a diagnosis, such as autism, epilepsy or LGS, or no diagnosis at all. We need to find them, so that when therapies under development are ready, they can benefit. This project is essential.”
SYNGAP1-related intellectual disability (ICD-10: F78.A1) is a rare genetic disorder caused by a variation on the SYNGAP1 gene, with nearly 1,000 diagnosed patients accounted for globally as of December 2021 per the #SyngapCensus. It leads to several neurological issues in patients, including intellectual disability, epilepsy, autism, sleep challenges, gastro-intestinal and feeding problems, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity and aggression.
ABOUT SYNGAP RESEARCH FUND
SRF, incorporated in 2018, is a 501(c)(3) public charity whose mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely parent-led, SRF is the largest non-government funder of SynGAP research having committed over $2.0M in grants. The founders cover all operational costs, allowing 100% of donations to go to research. SRF’s grant program awards one or two-year grants to young investigators, physician residents, and clinicians who are interested in studying SYNGAP1. SRF grants are intended to help researchers explore novel ideas and answer questions related to the clinical aspects, therapies and/or genetic causes of SYNGAP1. SRF is a member of the Personalized Medicine Coalition, COMBINEDbrain, Global Genes Foundation Alliance, the Everylife Foundation Community Congress, Rare Epilepsy Network, and Epilepsy Leadership Council.
Visit SyngapResearchFund.org to learn more.
ABOUT PROBABLY GENETIC
Probably Genetic helps drug developers and patient advocacy groups find undiagnosed rare disease patients faster, while providing severely ill patients with genetic tests. The company finds patients online using a proprietary machine learning platform and tests them for free via their telemedicine service. Backed by Y Combinator and Khosla Ventures, Probably Genetic’s mission is to diagnose 200 million rare disease patients worldwide.
Visit Probablygenetic.com to learn more.
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