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Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

Award Number: K23NS140397
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 01/01/2025
PERIOD OF PERFORMANCE END DATE: 12/31/2029

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Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis - PROJECT SUMMARY/ABSTRACT Epilepsies with onset in the first year of life are common, affecting 1 in 1000 infants, and are associated with significant morbidity, notably drug-resistant seizures and impaired developmental outcomes, and increased mortality. Although most infantile epilepsies have presumed molecular genetic etiologies, most cases remain genetically “unsolved” and the full molecular genetic landscape is unknown, which limits our ability to develop effective precision therapies. Further, the impact of genetic diagnosis in infantile epilepsies is largely unknown, which limits our ability to broadly implement genetic testing for this population. This proposal will address these knowledge gaps by identifying novel molecular genetic etiologies (genetic diagnoses) and evaluating their impact in a prospectively enrolled, longitudinally followed cohort of infants with unexplained epilepsy. Aim 1 will apply cutting-edge, comprehensive genomic analyses to identify novel genetic etiologies of infantile epilepsies, using short-read and long-read genome sequencing to identify pathogenic germline variants (Aim 1a) and deep sequencing to identify pathogenic mosaic variants (Aim 1b). Aim 2 will evaluate the multidimensional impact of genetic diagnosis (or lack thereof), using a validated measure of clinical utility and follow up of developmental progress and seizure frequency to assess impact on infants (Aim 2a) and a validated measure of parent-perceived utility and interviews with parents to assess impact on families (Aim 2b). The insights from this proposal will advance scientific knowledge and clinical care, with immediate diagnostic and therapeutic implications for infants with epilepsy, with the ultimate goal of advancing precision medicine and improving outcomes for this vulnerable population. Dr. D’Gama is a neonatologist with prior experience in basic neurogenetics research whose career goal is to become an independent physician-scientist at an academic medical center with a translational research program focused on precision medicine for infantile epilepsies and related neurogenetic disorders. Through the proposed K23 training program, Dr. D’Gama will gain new knowledge and skills in patient-oriented clinical and translational research, including advanced genomic sequencing and analyses, neonatal and infantile epilepsy phenotyping, epidemiology and biostatistics, qualitative analyses, and human subjects and clinical trials research, which will position her to successfully transition to independence. Dr. D’Gama’s mentor, Dr. Annapurna Poduri, is a leader in pediatric epilepsy and epilepsy genetics research, and her co-mentor, Dr. Margaret Parker, is a leader in neonatology and health services research. Both Drs. Poduri and Parker have extensive mentorship track records and Dr. D’Gama has also assembled a Scientific Advisory Committee and collaborators with complementary expertise. The institutional resources and intellectual community available through Boston Children’s Hospital and Harvard Medical School are world-class and will provide an ideal environment for Dr. D’Gama’s career development as a physician-scientist.


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 = $229,407 )
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	1/8/2026	NON-COMPETING CONTINUATION	$229,407
														Subtotal = $229,407

Issue Date FY: 2025 ( Subtotal = $230,904 )
2025	2025	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	12/16/2024	NEW	$230,904
														Subtotal = $230,904

Grand Total All Awards = $460,311

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Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

Award Number: K23NS140397

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 01/01/2025

PERIOD OF PERFORMANCE END DATE: 12/31/2029

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