Neural Development Club

Sattar Khoshkhoo (Director of the Epilepsy Genetics Clinic, Brigham and Women’s Hospital)
Oncogene Neurobiology – Somatic Cancer Driver Mutations in Focal Epilepsy

Mesial temporal lobe epilepsy (MTLE), characterized by seizures arising from the hippocampus, is the most common focal epilepsy subtype and frequently drug-resistant. While germline genetic factors play a very small role in MTLE pathogenesis, using novel sequencing approaches we have shown that post-zygotic (i.e., somatic) mutations in the hippocampus play a significant and potentially causal role in this disease. Strikingly, most mutations in MTLE and other focal epilepsies seem to arise in cancer driver genes in PI3K-mTOR and Ras-MAPK pathways suggesting that clonal selection may play a key role in epileptogenesis.

Heer Joisher (Graduate Student, Cepko lab, Harvard Medical School)
Spatial Patterning of Early Developmental Genes Relevant to Positioning of Chick High Acuity Area

The fovea is a small region within the central retina that is responsible for our high-acuity daylight vision. Chickens also have a high acuity area (HAA) and are one of the few model systems that enables studies of the mechanisms of HAA development, due to accessible embryonic tissue and methods to readily perturb gene expression. The precise positioning of the High Acuity Area (HAA) within the retina is established early in retinal development. Here, we investigated the spatiotemporal expression dynamics of early patterning genes during chick retinal development. Our analysis reveals precise spatial patterning along both the dorsal-ventral (DV) and anterior-posterior (AP) axes relevant to HAA positioning. Using multiplexed in situ RNA FISH hybridization, we further analyzed how these gene expression patterns interact to delineate boundaries within the neural retina. This study sheds light on the fundamental strategies employed by the retina in establishing the HAA, offering a roadmap for future investigations into its mechanistic underpinnings.


Open to trainees, faculty, and staff at Harvard and affiliated hospitals. Dinner provided!

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