Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
University of Missouri-Columbia
Summary
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments. Natural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.
Description
Rare genetic neurodevelopmental disorders are a diverse group of conditions caused by mutations in genes critical to brain development and function. These disorders often involve disruptions in key proteins responsible for processes like neurotransmitter release, synaptic signaling, and neuronal connectivity. For example, mutations in genes such as SYT1 (which encodes synaptotagmin-1, a calcium-sensing protein essential for regulated neurotransmission) can lead to severe conditions like SYT1-associated neurodevelopmental disorder, also known as Baker-Gordon Syndrome (BAGOS). Similar mutations…
Eligibility
- Age range
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Yes
For those with a rare condition: Inclusion Criteria: * Diagnosed or suspected neurogenetic disorder * Individuals 0-99 Exclusion Criteria: * Individuals unwilling or unable to complete visits with the study team. For control parents/caregivers of those with a rare condition: Inclusion Criteria: * No history of a neurological disorder. * \>18 years. * Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder. Exclusion Criteria: * Individuals unwilling or unable to complete the visit with the study team. * Individuals who have a history of neurological disorders.…
Interventions
- OtherNo Intervention: Observational Cohort
There is no intervention for this Natural History Study
Location
- University of Missouri - ColumbiaColumbia, Missouri