Cure GABA-A | Matrix Onboarding Tutorial | Agustina Fernandez, Patient Care Representative

Cure GABA-A | Matrix Onboarding Tutorial | Agustina Fernandez, Patient Care Representative

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A natural history study gathers data on how a disease unfolds in individuals over time.

For rare conditions like GABA-A Variants, this information is crucial, providing valuable insights that can lead to breakthroughs and improved treatments.

The Cure GABA-A Natural History Study is a secure database utilizing standardized surveys to continuously collect life-long experiences of patients, aiding researchers in understanding patterns and potential advancements for better disease management or cures.

Matrix, a technology platform by Jason Colquitt under Across Healthcare, supports rare disease communities like GABA-A Variants in gathering crucial information for patient registries and natural history studies.

COMBINEDBrain, collaborates on studies and data to expedite clinical treatments for severe rare genetic neurodevelopmental disorders.

The Cure GABA-A Natural History Study emphasizes the importance of survey-based data collection.

This aids researchers, families, and healthcare teams in comprehending the disease's evolution over time, informing better management and treatment approaches.

Participation in the study is open globally to individuals with confirmed GABA-A mutations diagnoses including GABRA1 GABRA2 GABRA3 GABRA4 GABRA5 GABRA6 GABRB1 GABRB2 GABRB3 GABRG1 GABRG2 GABRG3 GABRR1 GABRR2 GABRR3 GABRE GABRD GABRQ GABRP and their caregivers, confirmed through genetic testing or lumbar puncture results.

#GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP #combinedbrain #Matrixportal