According to a recent article from BioSpace, Boston’s Children Hospital was granted $308,000 to advance their multidisciplinary biomarker work.
SYNGAP1 syndrome is a neurological disorder that is characterized by intellectual disability. Approximately one to two percent of all intellectual disability is the result of a mutated SYNGAP1 gene.
Symptoms:
Moderate to severe intellectual disability is the major symptom of SYNGAP1 syndrome. Other symptoms include:
- Developmental delays
- Delays in picking up speech and motor skills, such as walking and sitting up
- Hypotonia
- Developmental regression
- Epilepsy
- Hyperactivity
- Autism spectrum disorder (in about half of all cases)
The Team
Doctors April Levin, Mustafa Sahin, and Annapurna Poduri are the team working on SYNGAP1 biomarker characterization and genotype-phenotype analysis. The goal of the study is to identify predictable biomarkers in SYNGAP1 patients. This way, the biomarkers can be targeted by future therapies.
Dr. Poduri’s research team will also be analyzing the data found in the Ciitizen SYNGAP1 study, which had over 100 patients. They will use that data to connect different variants observed in patients to their clinical symptoms. In doing this, they will display why the disease presents with a wide spectrum and help lay the groundwork for more work to be done.
“We are delighted to have the unique opportunity to analyze data collected by the SynGAP Research Fund and Ciitizen. Our team is excited to use this rich dataset to delineate the relationship between the type and location of SYNGAP1 variants and the spectrum of SYNGAP1-related epilepsy and neurodevelopmental features. This is a necessary step in understanding the natural history of SYNGAP1 and developing meaningful clinical outcomes to measure the success of future therapies through clinical trials.” – Dr. Poduri
The fundraising for this grant was done by the efforts of families affected by SYNGAP1. They raised money through Facebook birthday fundraisers, Ironman events, and everything in between. The money they raised for the grant will be critical in funding research to better understand SYNGAP1 disorder and improving patient’s lives.
