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Brain Malformation Expert Panels for Gene and Variant Curation

Award Number: U24NS137481
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2024
PERIOD OF PERFORMANCE END DATE: 04/30/2027

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Brain Malformation Expert Panels for Gene and Variant Curation - PROJECT SUMMARY Brain malformations comprise a group of genetic developmental brain disorders that present in childhood with epilepsy, intellectual, and other neurologic features, causing substantial morbidity, mortality, and health care costs. To date, mutations in hundreds of genes have been linked to brain malformations. The long-term goal of this project is to create a resource of well-categorized and expertly curated genes and variants responsible for causing brain malformations, to help clinicians navigate diagnosis and inform management. To this end, we have assembled an expert panel of clinician-investigators with broad, complementary expertise in brain malformations in the domains of gene discovery, neurobiology, clinical phenotype, radiographic presentation, and treatment. This panel will survey the literature to curate genes and variants associated with brain malformations, assess the strength of the evidence for these associations using ClinGen criteria, and organize them into biologically and clinically useful groups. They will work together with the ClinGen infrastructure and partner with biocurators from the Broad Institute to curate brain malformation genes through the Brain Malformations Gene Curation Expert Panel and variants in these genes through the Brain Malformations Variant Curation Expert Panel. A special focus of this group is the development of rigorous approaches to assess brain malformations caused by somatic mutations, a molecularly and clinically distinct subgroup of disorders (including those associated with focal cortical dysplasia (FCD), hemimegalencephaly (HME), and polymicrogyria (PMG) with megalencephaly, all recently associated with de novo germline or post-zygotic variants that result in activation of the mTOR-PI3K-AKT pathway) for which there are potentially important implications for treatment. Having created a blueprint for mosaic variant curation with recently published curation rules, this project will foster best practices in the clinical application of genomics to the care of patients with brain malformations: selecting appropriate diagnostic testing, interpreting variants, and ultimately choosing appropriate management.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $377,718 )
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	3	4/23/2026	NON-COMPETING CONTINUATION	$0
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	3	4/21/2026	NON-COMPETING CONTINUATION	$377,718
2026	2025	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	3/11/2026	NON-COMPETING CONTINUATION	$0
														Subtotal = $377,718

Issue Date FY: 2025 ( Subtotal = $377,718 )
2025	2025	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	2	4/22/2025	NON-COMPETING CONTINUATION	$377,718
2025	2024	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	11/18/2024	NEW	$0
														Subtotal = $377,718

Issue Date FY: 2024 ( Subtotal = $377,718 )
2024	2024	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	4/18/2024	NEW	$377,718
2024	2024	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	1	8/23/2024	NEW	$0
														Subtotal = $377,718

Grand Total All Awards = $1,133,154

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Brain Malformation Expert Panels for Gene and Variant Curation

Award Number: U24NS137481

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 05/01/2024

PERIOD OF PERFORMANCE END DATE: 04/30/2027

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