FOXG1 Parents Conference 2024: FOXG1 Clinical Findings: Elli Brimble and Kopika Kuhathaas

Описание: In this insightful session, we delve into the clinical finding of FOXG1 syndrome through the FOXG1 NHS (Natural History Study) and FOXG1 syndrome Disease Concept Model (DCM).

Elli Brimble: The FOXG1 Research Foundation's our Chief Clinical Data Officer is a leading expert in rare disease clinical research. Elli also currently serves as the Director of Rare Diseases at Citizen Health. Previously, she was a Genetic Counselor in Child Neurology at Stanford Children’s Health and co-directed Stanford’s Neurogenomics Program, contributing to the development of Natural History Studies for rare neurological disorders.
Kopika Kuhthaas: A genetic counselor who has been an integral part of our work for the past two years, bringing invaluable expertise to the FOXG1 community.

The FOXG1 Natural History Study (NHS) is the most comprehensive data collection on FOXG1 syndrome, providing crucial insights into how genetic variants impact patients. Supported by a grant from the Chan Zuckerberg Initiative, this groundbreaking study has reshaped the way natural history studies are conducted. By pioneering a new digital model, we have massively increased the amount of data captured in a fraction of the time, setting a new standard for research in rare diseases.
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