Deciphering the neurobiological pathways involved in heterogenous SETBP1 haploinsufficiency disorder using human brain organoids and transcriptomics

Awardees:

Simon E Fisher: Max Planck Institute for Psycholinguistics, The Netherlands

Maggie MK Wong: Max Planck Institute for Psycholinguistics, The Netherlands

Bregje W van Bon: Radboud University Medical Center, The Netherlands

Grant Amount: $45,832.00

Funding Period: February 1, 2023 - January 31, 2024

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Summary:

SETBP1-haploinsufficiency disorder is a rare disorder caused by DNA changes that lead to a decreased amount of the SETBP1 protein. Individuals with SETBP1-haploinsufficiency disorder show moderate-to-severe speech and language impairments, wide variability in intellectual functioning, hypotonia, vision impairment, and behavioral problems such as attention/concentration deficits and hyperactivity. To date, we still know little about how the SETBP1 protein works, and why insufficient amounts of this protein affect the human brain, leading to a disorder. Our research aims to utilize the informative tools that we have established in the laboratory to study the molecular and cellular pathways that are altered in SETBP1-haploinsufficiency disorder, and to understand how these relate to the clinical features of patients. Ultimately, we hope that analyses of SETBP1 (dys)function in the laboratory can help towards therapeutic development for the disorder.